Executive PerspectivesFuture of Medtech with E2E AI TransformationMedtech October 20251Copyright 202.
2025-11-05
29页
5星级
Circana,LLC|Proprietary and confidentialThe Global Health and Wellness MarketExecutive Summary Octob.
2025-11-05
40页
5星级
White PaperIndia:Emerging Hub for Obesity Clinical Trials RAINA SINGH PAPLIKAR,Head,Marketing&Corpor.
2025-11-05
14页
5星级
For updated information,please visit www.ibef.orgAugust 2025AYUSH2Executive Summary3Advantage India .
2025-11-04
32页
5星级
US Biotech Job Market:2025 Trends,Data&AnalysisBy Adrien Laurent,CEO at IntuitionLabs 10/2/2025 115 .
2025-11-03
41页
5星级
AI in Hospital Operations:2025 Trends,Efficiency&DataBy Adrien Laurent,CEO at IntuitionLabs 10/3/202.
2025-11-03
18页
5星级
AI Chatbots in Healthcare:A Review of 10 KeyExamplesBy Adrien Laurent,CEO at IntuitionLabs 10/4/2025.
2025-11-03
15页
5星级
AI Medical Devices:2025 Status,Regulation&ChallengesBy Adrien Laurent,CEO at IntuitionLabs 10/30/202.
2025-11-03
21页
5星级
The Annual Clinical Trials RoundupOctober 2025White PaperHeidi ChenAssociate Director,Research&C.
2025-10-30
34页
5星级
Brought to you by:Q4 2025 Outlook Report October 2025 2 October 2025 Copyright 2025 Evaluate,a Nors.
2025-10-30
50页
5星级
Health Trends 2026Balancing cost control with benefits optimizationEmployer-provided health plans fa.
2025-10-30
47页
5星级
White PaperThe Evolution of Health Literacy:Challenges and Opportunities for Clinical Trial Recruitm.
2025-10-30
14页
5星级
Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Sept 2ContentsIntroduction3Regional prevalence of rare diseases3Challenges experienced by patients3Market access to rare disease therapies4Rare disease regulatory guidelines4Challenges faced by the pharma industry6Rare diseases market revenue6Top-selling orphan drugs7Key established market players8Emerging companies making an impact in the rare disease market12Fabrys disease14Angelman syndrome22Kabuki syndrome25Alstroms Syndrome26Job syndrome27Cerebrotendinous xanthomatosis28Cockayne syndrome29Progeria30Lesch-Nyhan syndrome32Colour vision defects33Fibrodysplasia ossificans progressiva34Metachromatic leukodystrophy39Aicardi-Goutires-syndrome42Capillary leak syndrome43Cryopyrin-associated periodic syndromes44Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy48Li-Fraumeni syndrome49Giant lymph node hyperplasia50Erythropoietic porphyria53Total R&D deal value for rare diseases over 17 Years55Top R&D deals for rare diseases over the past four years56Conclusion59References60Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders IntroductionHistorically,rare diseases have not received adequate attention due to their impact on a small number of individuals.The rarity of a disease is determined by its prevalence,which refers to the number of individuals affected by it.In the United States,a disease is classified as rare if fewer than 200,000 people are affected by it,equivalent to 60 per 100,000 individuals.Internationally,the definition varies:in the European Union,a disease is considered rare if it affects no more than 50 per 100,000 people,while the World Health Organization defines rare diseases as those affecting fewer than 65 per 100,000 people.Regional prevalence of rare diseases According to data from the Orphanet database,the United States has the largest number of diagnosed rare disease patients at 80 million,followed by China with 76 million,and the European Union with 50 million.Regional distribution of the number of rare diseasesFig.1:Geographical distribution of the number of rare diseasesChallenges experienced by patients Insufficient scientific understanding and limited access to quality information about the disease often lead to delays in diagnosis Access to appropriate healthcare of high quality creates disparities and challenges in obtaining treatment and care,often imposing significant social and financial burdens on patients The wide range of disorders and common symptoms that can mask underlying rare diseases frequently result in initial misdiagnoses.Symptoms not only vary between diseases but also among patients with the same disease International collaboration in research is essential to connect experts,researchers,and clinicians and address these challenges Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersMarket access to rare disease therapies Presently,China is at the forefront regarding the proportion of rare disease treatments accessible in the market.The nation has intensified its commitment to rare diseases,implementing policies to improve diagnosis,treatment options,and medication availability,while also alleviating the burdens faced by patients.Chinas national system for rare diseases has made significant strides in improving access to orphan drugs,supported by integrated reforms in healthcare delivery,insurance policies,and pharmaceutical distribution networks.Following China are Indonesia,India,and the USA in these efforts.A few examples of treatments and related rare diseases in these regions are:China-Hydrocortisone(21-Hydroxylase Deficiency,Congenital Adrenal Hypoplasia),Pyridostigmine Bromide Tablets(Generalized Myasthenia Gravis),Human Coagulation Factor IX(Haemophilia),Penicillamine Tablets(Hepatolenticular Degeneration)etc.Indonesia-Ibuprofen(patent ductus arteriosus in neonates),Skyclarys(Friedreichs ataxia),Fabhalta(paroxysmal nocturnal haemoglobinuria),etc.India-Eliglustat(Gauchers Disease),Hydroxyurea(Sickle Cell Anemia),Nitisinone(Tyrosinemia Type 1),Drxia(sickle cell illness),etc.USA-Recombinant Human Coagulation factor IX(Haemophilia),Dimercaptosuccinic Acid(Hepatolenticular Degeneration),Evolocumab Injection(Homozygous Hypercholesterolemia)etc.Global access to rare disease therapiesFig 2:Regional availability of rare disease therapiesRare disease regulatory guidelinesRegulatory guidelines for orphan drugs are designed to encourage pharmaceutical companies to invest in these treatments,addressing conditions that might otherwise be neglected due to limited market potential.In the United States,the Orphan Drug Act(ODA)of 1983 established a framework to incentivize the development of orphan drugs.This includes offering tax credits for clinical research,grants for research and development,and seven years of market exclusivity upon approval.Before 1983,the FDA had approved only 38 orphan drugs.By 2002,the number of orphan drug approvals had increased to over 230.By 2014,there were 468 orphan indications across 373 drug products.By the end of 2019,the number of orphan indications had risen to 838,encompassing 564 distinct drugs.In 1993,Japan implemented similar measures,granting orphan drugs 10 years of regulatory exclusivity.Australia adopted a comparable regulation in 1997,offering 5 years of exclusivity.The European Union followed in 2000,using the Orphan Drug Act(ODA)as a model and,like Japan,provided 10 years of exclusivity.United States(Orphan Drug Act,1983):Impact:Pre-1983:38 orphan drugs approved by FDA.By 2002:Over 230 orphan drug approvals.By 2014:468 orphan indications across 373 drug products.By 2019:838 orphan indications for 564 distinct drugs.35(%$%0%5 %05%ChinaIndonesiaIndiaUSAPercentage of rare disease therapiesCountries4Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Apart from market exclusivity for ten years,the European Unions equivalent,the Orphan Medicinal Products Regulation,provides similar incentives,including protocol assistance,and financial benefits.Both regulatory bodies aim to reduce the financial risks associated with developing treatments for small patient populations and to ensure that these crucial therapies reach those in need.The guidelines streamline the approval process,enhance collaboration between developers and regulators,and support ongoing research to address unmet medical needs in rare diseases.Table 1:Comparison of regulatory policy for the development of orphan drugsBetween 2019 and August 2024,the U.S.Food and Drug Administration granted 2,226 orphan drug designations and approved 479 orphan drugs.Notably,in 2020,the FDA received a record number of rare pediatric disease designation requests,representing over a 330%increase from 2019.Examples of treatments include:Oral fludarabine phosphate for chronic lymphocytic leukemia Clobazam for Lennox-Gastaut syndrome Oral beclomethasone dipropionate for pediatric Crohns disease The year 2021 saw the highest number of approvals,including drugs like Tepmetko,Lupkynis,and Cabenuva.KoreaUSAEUJapanLawOrphan drug act(1998)Orphan drug act(1983)Orphan regulation(2000)Orphan drug act(1993)Rare disease management act(2016)Exclusive marketing right10 Years7 Years10 Years10 YearsApproval processFast track designationFast track designation,Scientific advice and protocol assistanceFast trackPriority reviewBreakthrough therapy,DesignationAccelerated approvalScientific advice and protocol assistancePriority reviewReduction of fees or fee waivers for the process Tax-credit Research grant Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersFive-year comparison of approvals versus designations for orphan drugsFig 3:Drug Approvals Vs Orphan Drug Designations by US FDA(2019 2024)Challenges faced by the pharma industryMost rare diseases currently have no cure,and gaps in medical knowledge persist.However,recent years have seen significant progress in treatment and care,improving quality of life and extending lifespan for many affected individuals.Nonetheless,further research and development efforts are crucial to continue advancing treatments and ultimately improve outcomes for those living with rare diseases.Below is the major list of challenges faced by the pharma industry:Rare diseases market revenue The National Institutes of Health(NIH)recognizes over 7,000 rare diseases,with about 95 percent lacking effective treatments.A significant number of these conditions receive limited attention from medical researchers,resulting in many patients resorting to off-label treatments,which are not FDA-approved for their specific condition and can create challenges with insurance coverage.050100150200250300350400450500201920202021202220232024NumberYearsApprovalsDesignationsClinical trials facechallenges due to limitedpatient availabilityTreating rare diseases isnot economically viableFinding enough eligible patients for rare disease trials is challenging due to disease rarity.Patient populations vary widely in subtypes,symptoms,stages,and treatments.Rare diseases pose significant challenges to scientists due to limited knowledge of their causes,mechanisms,and interactions.This hampers the development of effective research strategies and targeted treatments.Developing therapies for rare medical conditions presents a financial challenge for pharmaceutical firms due to high development costs,a small patient pool,and limited market size,discouraging investment in rare disease research.Limited understandingof rare diseases impactsresearch strategydevelopment6Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders The rare disease market is both appealing and anticipated to expand rapidly.Although approximately 7,000 rare diseases have been identified,only around 130 have approved treatments available.There is a substantial unmet medical need,and existing treatments offer considerable benefits.Governance and regulatory incentives,such as expedited approval processes and enhanced protection under orphan designation,further enhance the markets attractiveness.Swedish Orphan Biovitrum AB,forecasts a 9%growth in the overall market revenue by 2030.Projected revenue for the rare disease market(2023-2030)Fig 4:Market revenue forecast of rare disease(2023-2030)Top-selling orphan drugsThe revenue of orphan drugs sales has shown a consistent upward trend in the past five years,reaching its peak in 2023.Five-year revenue analysis of orphan drugs(2019-2023)Fig 5:Revenue for orphan drugs(2019-2023)05010015020025030020232024202520262027202820292030Market revenue in USD bn 9%Year11413214915716802040608010012014016018020192020202120222023Sales revenue in billions US dollarsY Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersFigure 6 illustrates the sales of leading orphan drugs over the last 5 years.The data clearly shows a consistent upward trend in revenue for these drugs.Specifically,Darzalex(for Multiple myeloma),Hemlibra(for Haemophilia A),and Ultomiris(for Haemolytic uraemic syndrome,Myasthenia gravis,Paroxysmal nocturnal haemoglobinuria)have demonstrated continuous growth in market revenue during this period.Five-year analysis of market revenue for top-selling orphan drugs(2020 2024)Fig 6:Market revenue for best-selling orphan drugs(2020 2024)Key established market players We have identified 10 leading companies in the rare disease treatment sector,noted for their robust sales and product portfolios.These companies employ diverse strategies to meet the growing demand for rare disease treatments,including mergers and acquisitions to expand regionally and increase market share.F.Hoffmann-La Roche Ltd.:In 2018,global orphan drug sales for Roche reached$10.3 billion,with a projected 27%increase by 2028.Roche has made notable advances in rare disease treatments with notable drugs like Hemlibra and Ocrevus.Hemlibra,a bispecific antibody,links factor IXa and factor X to restore blood clotting in haemophilia A patients.Ocrevus,anti-CD20 monoclonal antibody,is the only approved disease-modifying therapy for both relapsing-remitting and primary progressive multiple sclerosis.By 2023,its sales reached CHF 6.4 billion,an increase of 13%,including 11%growth in the US.In addition to these drugs,Roche has engaged in partnerships and acquisitions for rare disease treatments.Here are a few examples:In 2006,Roche partnered with PTC Therapeutics and the SMA Foundation to develop Evrysdi,a treatment for spinal muscular atrophy.In 2019,Roche acquired Spark Therapeutics to advance a gene therapy for hemophilia A,currently in Phase II.In 2021,Roche collaborated with Lineage Cell Therapeutics to develop OpRegen,a retinal pigment epithelium(RPE)cell therapy for geographic atrophy,also in Phase II.Company name:F.Hoffmann-La Roche LtdDrug class:Bispecific antibody,disease-modifying therapyIndications:Haemophilia A,Relapsing-remitting and primary progressive multiple sclerosisDrugs:Hemlibra,OcrevusGlobal orphan drug sales:$10.3 billion in 2018Financial projection:27%increase by 2028020004000600080001000012000Market revenue in US$millionOrphan Drugs2020202120222023Q 1 20248Top-selling orphan drugsDarzalex-Multiple myelomaHemlibra-Haemophilia AUltomiris-Myasthenia gravis,Haemolytic uraemic syndrome,PNHRare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Company name:NovartisDrug class:iron-chelating agent,mTOR inhibitorIndications:Chronic iron overload,Treatment-resistant seizures in tuberous sclerosis complex(TSC)Drugs:Exjade,AfinitorGlobal orphan drug sales:$10.2 billion in 2018Financial projection:27%increase by 2028Novartis:In 2018,Novartiss orphan drug sales hit$10.2 billion.Novartis is expected to have a 27%increase in orphan drug sales by 2028.By 2022,the company invested about$10 billion in R&D,securing 23 new approvals in major markets.Key products include Exjade for iron overload and Afinitor for certain tumors.Exjade,an iron chelating agent,is used for chronic iron overload from blood transfusions,In 2023,the global Deferasirox Tablet market was valued at$323 million and is projected to decline to$113.8 million by 2030.Afinitor is an mTOR inhibitor,that helps manage treatment-resistant seizures in tuberous sclerosis complex(TSC),a rare genetic disorder.In 2023,the global Afinitor Drug market was valued at$814 million and is expected to grow to$1,093.6 million by 2030,with a compound annual growth rate(CAGR)of 4.6%from 2024 to 2030.Few other drugs in the companys rare disease pipeline include:Iscalimab(CFZ533)A monoclonal antibody functioning as a CD40 inhibitor,currently in phase II development for Sjogrens syndrome.MHV370-A small molecule acting as an antagonist for Toll-like receptor 7 and Toll-like receptor 8,currently in phase II development for Sjogrens syndrome.Ianalumab(VAY736)-A monoclonal antibody that mediates B-cell depletion through antibody-dependent cell cytotoxicity,currently in phase III development for Sjogrens syndrome.AVXS-101-A gene replacement therapy for the survival motor neuron gene(SMN1),currently in phase III development for spinal muscular atrophy.ZOLGENSMA(onasemnogene abeparvovec-xioi)A gene therapy that works through gene transfer,recently launched for spinal muscular atrophy.Ilaris(canakinumab)A monoclonal antibody that functions as an interleukin-1 beta inhibitor,recently launched for cryopyrin-associated periodic syndromes.Fabhalta(iptacopan)-A small molecule that acts as a complement factor B inhibitor,recently launched for paroxysmal nocturnal hemoglobinuria.JADENU(deferasirox)-A small molecule that functions as a cytochrome P-450 CYP2C8 inhibitor,recently launched for iron overload.Bristol-Myers Squibb:In 2018,BMSs orphan drug sales reached$3.8 billion,with a projected 28%market increase by 2028.Bristol Myers Squibbs Camzyos,approved by the FDA for obstructive hypertrophic cardiomyopathy,is expected to become a blockbuster.This approval is a significant gain from BMSs 2020 acquisition of Camzyoss developer,MyoKardia.Camzyos total market revenue was$226 million and is expected to grow in the coming years.BMS has also acquired Celgene,which specializes in CAR-T cell therapy for rare blood cancers and inflammatory diseases.CAR-T therapy reprograms a patients T cells to target cancer cell proteins,providing significant and lasting responses where other treatments have not succeeded.BMS also has additional drugs for rare diseases in its pipeline.Heres the list:REBLOZYL-In phase III development for Myelodysplastic Syndromes,Myelofibrosis ONUREG-In phase III development for Myelodysplastic Syndromes REBLOZYL-In phase II development for Beta-thalassaemia INREBIC-In phase III development for Myelofibrosis Deucravacitinib-In phase II development for Lupus nephritis,Crohns disease,Discoid lupus erythematosus Cendakimab-In phase III development for Eosinophilic Esophagitis Branebrutinib-In phase II development for Sjogrens syndromeCompany name:Bristol-Myers SquibbDrug class:Small molecules,CAR-T cell therapiesIndications:Obstructive hypertrophic cardiomyopathy,rare blood cancers and inflammatory diseasesDrug:CamzyosGlobal orphan drug sales:$3.8 billion in 2018Financial projection:28%increase by Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersPfizer,Inc.:In 2018,Pfizers global orphan drug sales were$4.5 billion,with a projected 20%increase by 2028.As a major pharmaceutical company,Pfizers diverse portfolio includes vaccines,oncology,cardiology,and rare diseases.Recently,Pfizer has led in the orphan drug market with treatments for haemophilia and Duchenne muscular dystrophy.In April 2024,the FDA approved Pfizers BEQVEZ(fidanacogene elaparvovec-dzkt),a one-time gene therapy for haemophilia B,priced at$3.5 million,making it one of the most expensive drugs in the U.S.Alongside these drugs,Pfizer has entered into partnerships and made acquisitions for rare disease treatments.Here are a few examples:In 2016,Pfizer acquired Bamboo Therapeutics and participated in the development of PF 06939926 for treating Duchenne muscular dystrophy,which was eventually discontinued.In 2017,Pfizer entered into a licensing agreement with Spark Therapeutics for the development of PF-07055480,which is currently in phase III for the treatment of haemophilia A.Sanofi:In 2018,Sanofis global orphan drug sales totaled$5.3 billion,with a projected 20%increase by 2028.Founded in 1973,Sanofi has a broad portfolio,including vaccines,diabetes treatments,cardiovascular drugs,and rare disease therapies through Sanofi Genzyme.Sanofi Genzyme leads in the orphan drug market with treatments for Gaucher and Fabry diseases,as well as haemophilia A.In May 2024,Sanofi completed its acquisition of Inhibrx,Inc.,adding SAR447537(formerly INBRX-101)to its rare disease pipeline.SAR447537 is a human recombinant protein that may enable less frequent dosing for alpha-1 antitrypsin deficiency(AATD)patients.Drugs like Venglustat and Fitusiran are gaining attention,with Venglustat expected to reach$28 million annually by 2034 and Fitusiran projected at$277 million annually by 2034,according to GlobalData.In addition to these drugs,in May 2024,Sanofi acquired Inhibrx,Inc.,which is set to receive$30.00 billion in cash per share for the development of SAR447537,a phase II drug for treating alpha-1 antitrypsin deficiency.Other drugs in phase III development in the pipeline include:Rilzabrutinib for the treatment of warm autoimmune hemolytic anaemia.Losmapimod for the treatment of facioscapulohumeral muscular dystrophy.Nexviazyme for the treatment of Pompe disease.Alexion Pharmaceuticals,Inc.:In 2018,Alexions global orphan drug sales were$4.1 billion.Although Soliris targets a niche marketparoxysmal nocturnal haemoglobinuria,a rare blood disorder affecting about 8,000 Americansit has achieved blockbuster status due to its high price of up to$400,000 per year,making it the worlds most expensive drug.Soliris is Alexions sole revenue source,so a recent FDA warning about issues at its Rhode Island plant appears critical.The drug has expanded to treat atypical hemolytic uremic syndrome and,as of June,neuromyelitis optica,increasing its market and sales by 600%from 2007 to 2012.A few other launched drugs include:KANUMA launched for cholesterol ester storage disease and Wolman disease KOSELUGO launched for neurofibromatosis type 1 SOLIRIS for hemolytic uremic syndrome,myasthenia gravis,neuromyelitis optica,and paroxysmal nocturnal hemoglobinuria STRENSIQ launched for hypophosphatasia ULTOMIRIS for hemolytic uremic syndrome,myasthenia gravis,and paroxysmal nocturnal hemoglobinuria VOYDEYA for the treatment of extravascular hemolysis(EVH)in adults with paroxysmal nocturnal hemoglobinuria.Company name:SanofiDrug class:gene therapy Indications:Gaucher,Fabry diseases,HaemophiliaDrugs:Venglustat and Fitusiran Global orphan drug sales:$5.3 billion in 2018Financial projection:20%increase by 2028Company name:Alexion PharmaceuticalsIndications:Atypical hemolytic uremic syndrome,Neuromyelitis opticaDrug:Soliris Global orphan drug sales:$4.1 billion in 201810Company name:PfizerDrug class:gene therapy Indications:Oncology,cardiology,and rare diseasesDrug:BEQVEZGlobal orphan drug sales:$4.5 billion in 2018Financial projection:20%increase by 2028Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Company name:Eli lillyIndications:Post-BTK mantle cell lymphoma,Chronic Lymphocytic LeukemiaDrug:JaypircaCompany name:Novo NordiskIndication:HaemophiliaDrug:ConcizumabVertex Pharmaceuticals:Orphan drug sales for Vertex are projected to rise by 94%by 2028.The company has a strong pipeline for rare diseases,with VX-121(Vanzacaftor)being a major revenue driver,with a net present sale of$5.8 billion.In June 2024,the FDA accepted the New Drug Application for Vanzacaftor/Tezacaftor/Deutivacaftor,a new triple combination therapy for cystic fibrosis.VX-121,a CFTR modulator,holds a leading position in the cystic fibrosis market,with Vertexs CF sales continuing to grow due to this triple therapy.Vertexs pipeline also includes:Exa-cel launched for beta-thalassemia and sickle cell anemia Povetacicept in pivotal development for IgA nephropathy VX-522 in phase I/II development for cystic fibrosis Povetacicept in phase I/II development for anti-neutrophil cytoplasmic antibody-associated vasculitis,primary membranous nephropathy,lupus nephritis,immune thrombocytopenia,and autoimmune hemolytic anemia Follow-on molecules in phase I development for cystic fibrosis and APOL1-mediated kidney disease Research-stage programs involving several small molecules for Huntingtons disease and alpha-1 antitrypsin deficiency.Eli Lilly:Eli Lilly and Company is focused on developing treatments for rare diseases.In January 2023,the U.S.FDA approved Jaypirca for a rare blood cancer.The wholesale price for Jaypirca is set at$21,000 per 30 days for the 200 mg dose.Jaypirca received its initial FDA approval in January as a third-line treatment for post-BTK mantle cell lymphoma(MCL).Despite this restricted indication,Jaypirca generated$22.7 million in sales during Q3 2023.The confirmatory trial for its accelerated approval,BRUIN MCL-321,compares Jaypirca to the investigators choice of Imbruvica,Calquence,or Brukinsa in MCL patients who have previously undergone at least one line of therapy.Sales for Q1 2024 rose to$50 million for Jaypirca,marking a boost in sequential quarterly growth following the Q4 2023 approval for Chronic Lymphocytic Leukaemia.In addition to Jaypirca,Eli Lilly has several other drugs in phase II and phase III development for rare diseases:Phase II development:GRN gene therapy for frontotemporal dementia,DC-806 for psoriasis,GBA1 gene therapy for Gaucher Disease Type 1,and a CD19 antibody for multiple sclerosis.Phase III development:Pirtobrutinib as monotherapy or in combination for relapsed or recurrent chronic lymphocytic leukemia,as well as first-line treatment for chronic lymphocytic leukemia and monotherapy for relapsed or recurrent mantle cell lymphoma.Novo Nordisk:Novo Nordisk is a major player in the rare disease treatment market,focusing on unmet needs in rare blood disorders like haemophilia.The company produces medicines for rare diseases at facilities in Brazil and China.Its Rare Disease unit is dedicated to advancing scientific and technological innovations for those with rare and ultra-rare conditions.One of its upcoming drugs,Concizumab,is expected to be launched soon for haemophilia A and B.Some of the other drugs in the pipeline include:Etavopivat:in phase III development for sickle cell disease Mim8:in phase III development for hemophilia Ndec:in phase II development for sickle cell diseaseCompany name:Vertex PharmaceuticalsDrug class:Small moleculesIndication:Cystic fibrosisDrug:VanzacaftorFinancial projections:94%increase by Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersAstraZeneca:AstraZeneca is a significant player in the rare disease market.In 2020,the acquisition of Alexion for$39 billion enhanced its position in this field.In September 2023,Alexion,AstraZeneca Rare Disease,bought a portfolio of preclinical rare disease gene therapy programs and technologies from Pfizer.In March 2024,AstraZeneca acquired Amolyt Pharma for$1.05 billion to bolster its rare disease offerings;Amolyt Pharma is developing a treatment for hypoparathyroidism.AstraZeneca is projected to see a 29%increase in global orphan drug sales by 2028.AstraZenecas extensive pipeline includes:Ultomiris:launched for hemolytic uremic syndrome,myasthenia gravis,and paroxysmal nocturnal hemoglobinuria,and in late-stage development for hematopoietic stem cell transplant-associated thrombotic microangiopathy and proliferative lupus nephritis Ultomiris CHAMPION-NMOSD:launched for neuromyelitis optica spectrum disorder Ultomiris ARTEMIS:in late-stage development for cardiac surgery-associated acute kidney injury Ultomiris I CAN:in late-stage development for immunoglobulin A nephropathy Acoramidis:in phase III development for transthyretin amyloid cardiomyopathy ALXN2220 DepleTTR-CM:in phase III development for transthyretin amyloid cardiomyopathy Anselamimab:in phase III development for amyloid light chain amyloidosis Efzimfotase alfa:in phase III development for hypophosphatasia Eneboparatide CALYPSO:in phase III development for hypoparathyroidism Gefurulimab PREVAIL:in phase III development for generalized myasthenia gravis Vemircopan:in phase II development for immunoglobulin A nephropathy and proliferative lupus nephritis ALXN1910:in phase I development for bone metabolism ALXN1920 and ALXN2030:in phase I development for nephrology ALXN2080:in a phase I study involving healthy volunteersEmerging companies making an impact in the rare disease marketBiotech startups are vital in combating rare diseases by creating innovative therapies and treatments.Advances in technology have led to a surge in clinical trials for these conditions.Startups have already made significant strides in treating diseases like paroxysmal nocturnal haemoglobinuria(PNH),congenital athymia,and IgA nephropathy.Below are 10 biotech companies that are leading the charge in rare disease research and development.Apellis:Apellis is dedicated to creating groundbreaking treatments for ophthalmology,rare diseases,and neurology by targeting the complement cascade,a crucial part of the immune system that can sometimes attack healthy cells.The company focuses on the central protein,C3,to address all disease-driving activation pathways.This strategy has led to the approval of two FDA drugs:Syfovre was recently approved for Geographic Atrophy(GA),which earned$137.5 million in the U.S.during the first quarter of 2024.Empaveli is Apelliss first FDA-approved treatment for PNH,which generated$24.5 million in the U.S.during the second quarter of 2024.Enzyvant:The biopharmaceutical company Enzyvant,part of Japans Sumitomo Biopharma Limited,was formed from the merger of Enzyvant Therapeutics and Altavant Sciences.Focused on rare diseases,Enzyvant collaborates with patients,caregivers,and various stakeholders to accelerate transformative medicines.Its research spans T-cell biology,serotonin signaling,and inflammatory responses in the lungs.Enzyvants FDA-approved drug RETHYMIC,developed through its research,aids children with congenital athymia,a condition where they lack a thymus and struggle with life-threatening infections.Company name:ApellisMoA:Central protein C3Indications:Ophthalmology,Rare diseases,and Neurology Drugs:Syfovre,EmpaveliCompany name:EnzyvantMoA:Tissue replacementsIndications:DiGeorge syndromeDrug:Rethymic12Company name:AstraZenecaDrug class:Gene therapy Indications:Hypoparathyroidism,Primary Systemic Amyloidosis,Hypophosphatasia,Myasthenia gravisDrugs:Anselamimab,Eneboparatide,Efzimfotase alfa,Gefurulimab Financial projection:29%increase by 2028Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Travere Therapeutics:IgA nephropathy,a rare kidney condition caused by the buildup of immunoglobulin A(IgA),is typically managed with Angiotensin-converting enzyme(ACE)inhibitors or angiotensin receptor blockers(ARBs).Travere Therapeutics,based in San Diego,has received FDA approval for Filspari,a novel non-immunosuppressive treatment for this disorder.Filspari targets endothelin-1 and angiotensin II receptors,which play a key role in the progression of IgA nephropathy,and is designed for patients at high risk of rapid disease progression.The FDA granted accelerated approval due to its effectiveness in reducing proteinuria and lowering the risk of kidney failure.In the second quarter of 2024,net product sales reached$52.2 million,up from$29.5 million in the same period in 2023,reflecting increased sales from the ongoing commercial launch of Filspari.Longboard Pharmaceuticals:Longboard Pharmaceuticals is a clinical-stage biopharmaceutical company dedicated to developing innovative and transformative treatments for neurological diseases,with an initial emphasis on rare conditions.The company offers therapeutic solutions for rare neurological disorders and has a proprietary pipeline that includes:LP352,a 5-HT2C receptor modulator aimed at treating epileptic encephalopathies LP143,a cannabinoid type 2 receptor(CB2)modulator LP659,a selective S1P receptor modulator designed for the treatment of epilepsies,amyotrophic lateral sclerosis,Parkinsons disease,and various central nervous system neuroinflammatory disorders.Alchemab Therapeutics:Alchemab Therapeutics is a biotech firm focused on leveraging the immune system to develop next-generation antibody therapies for difficult-to-treat diseases without existing disease-modifying treatments.By studying natural antibody responses in individuals who resist or recover from specific diseases,the company aims to create therapies for those lacking this protective response.Recently,Alchemab received a 1.7 million($2 million)grant from Innovate UKs Biomedical Catalyst 2022 to advance a disease-modifying therapy for Huntingtons disease.This rare,inherited neurodegenerative disorder,caused by a faulty gene on chromosome 4,leads to gradual brain neuron loss,with no current cure or effective treatment to slow its progression.iOnctura:iOnctura is focused on developing therapies for challenging cancers affected by stroma and immune resistance.The company targets key tumor survival pathways and creates drugs that address multiple mechanisms with a single treatment.iOncturas pipeline includes precision molecules such as IOA-244(in phase I/II trials),IOA-289(in phase 1b trials),and IOA-237(in preclinical studies).In January,the FDA granted Orphan Drug Designation to IOA-244 following its promising clinical activity in patients with uveal melanoma.PTC Therapeutics:PTC Therapeutics specializes in developing orally administered small molecule drugs and gene therapies that regulate gene expression by targeting post-transcriptional control mechanisms for orphan diseases.For the full year of 2024,PTC expects total revenues to range from$700 million to$750 million.The company also boasts a strong pipeline of treatments for orphan diseases.Below is the list of drugs:EMFLAZA-Approved in the US for the treatment of Duchenne muscular dystrophy in patients 2 years of age and older.Emflaza net product revenues were$57.5 million for the first quarter of 2024,compared to$54.6 million for the first quarter of 2023.EVRYSDI-EVRYSDI(risdiplam)is an RNA splicing modifier targeting SMN2 to treat spinal muscular atrophy(SMA)caused by chromosome 5q mutations.Approved in the US and by the European Medicines Agency,EVRYSDI generated approximately CHF 1,419 million in sales for Roche in 2023,resulting in$168.9 million in royalty revenue for PTC,up from$113.5 million in 2022.TEGSEDI-TEGSEDI(inotersen)has been approved by Brazils ANVISA for treating stage 1 or 2 polyneuropathy in adults with hereditary transthyretin amyloidosis(hATTR).The drug is also approved in the US,Canada,and the EU for hATTR-related polyneuropathy.For the first half of 2024,TEGSEDI and WAYLIVRA generated net revenue of$8 million.Company Name:Travere TherapeuticsMoA:Angiotensin type 1 receptor antagonists;Endothelin A receptor antagonistsIndication:IgA nephropathyDrug:FilspariCompany name:Longboard PharmaceuticalsMoA:Serotonin 2C receptor agonists,Sphingosine 1 phosphate receptor modulators,Cannabinoid receptor CB2 agonistsIndications:Developmental disabilities,Neurological Disorders,ALS,Parkinsons DiseaseDrugs:LP352,LP143,LP659Company Name:Alchemab TherapeuticsMoA:HD protein modulators,Indication:Huntingtons disease,Drug:ATLX 1095Company Name:iOncturaMoA:Phosphatidylinositol 3 kinase delta inhibitors;Angiogenesis inhibitors;Cell proliferation inhibitors;ENPP2 protein inhibitorsIndications:Uveal melanoma,Pancreatic CancerDrugs:IOA-244,IOA-289,IOA-237Company Name:PTC TherapeuticsDrug class:Gene therapies,small moleculesLead Indications:Duchenne muscular dystrophy,Aromatic amino acid decarboxylase deficiency,Phenylketonuria,Spinal muscular atrophy,Friedreichs ataxia,Mitochondrial disordersTop Revenue-Generating Drugs:Emflaza-$57.5 million in Q1 2024,Evrysdi-CHF 1,419 million in 2023,Tegsedi-$8 million in H12024 along with WAYLIVRA,Translarna-$70.4 million in Q2 Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders TRANSLARNA-TRANSLARNA(ataluren)is approved in the EU and Brazil for ambulatory patients aged 2 and older with Duchenne muscular dystrophy caused by a nonsense mutation in the dystrophin gene.It remains an investigational drug in the US.For Q2 2024,TRANSLARNAs net product revenue was$70.4 million,down from$96.5 million in Q2 2023.UPSTAZA-UPSTAZA(eladocagene exuparvovec)is approved in the EU,Great Britain,and Israel for treating AADC deficiency in patients 18 months and older.PTC submitted a BLA to the FDA in March 2024 for the same indication.WAYLIVRA-PTC now holds the commercialization rights for WAYLIVRA(volanesorsen)in Latin America,while Ionis Pharmaceuticals will market it elsewhere.WAYLIVRA is approved in the EU for treating familial chylomicronemia syndrome(FCS).Sepiapterin-PTC has submitted a sepiapterin MAA to the European Medicines Agency for treating all subtypes of Phenylketonuria in both pediatric and adult patients.The submission includes data from the phase 3 APHENITY trial,which showed that sepiapterin significantly reduced blood phenylalanine levels.Vatiquinone-Vatiquinone,an investigational drug targeting 15-lipoxygenase,aims to treat Friedreich ataxia.PTC plans to file an NDA for vatiquinone in late 2024.Rocket Pharmaceuticals:Gene therapy is advancing rapidly as a treatment for rare diseases,many of which stem from single-gene defects.This approach aims to correct genetic faults by replacing or modifying the defective gene,potentially leading to cures rather than just symptom management.Rocket Pharmaceuticals,a late-stage biotech firm,is developing a range of genetic therapies for rare,life-threatening pediatric diseases.Utilizing AAV and lentiviral vectors,the company targets specific genetic mutations within affected cells.Recently,Rocket received FDAs regenerative medicine advanced therapy designation for its AAV-based RP-A501 therapy,which addresses Danon diseasea rare,fatal genetic condition affecting the heart and muscles with no current disease-modifying treatments.SpliceBio:SpliceBio is developing next-generation gene therapies by addressing the capacity limits of AAV vectors,which can only carry 4.7 kilobases of genetic material.The company utilizes inteins,proteins that splice peptides to create new proteins,to overcome this limitation.Co-founders Miquel Vila-Perell and Silvia Frutos developed engineered split inteins for therapeutic use while at Princeton University.SpliceBio secured 50 million($52.7 million)in Series A funding,led by UCB Ventures and Ysios Capital.This funding will advance its lead program for Stargardt diseasean inherited retinal disorder caused by mutations in the ABCA4 geneinto preclinical trials.Since the ABCA4 gene is too large for single AAV vectors,SpliceBio aims to find a solution using its Protein Splicing platform.Horizon Therapeutics:CEO Tim Walbert,who lives with a rare disease,causing widespread inflammation and chronic pain,joined Horizon Therapeutics to make medical breakthroughs for rare,autoimmune,and severe inflammatory conditions.The companys portfolio includes treatments for these rare diseases:Actimmune for chronic granulomatous disease(CGD),Buphenyl and Ravicti for urea cycle disorders,Krystexxa for gout,Procysbi for nephropathic cystinosis,Tepezza for thyroid eye disease,and Uplizna for neuromyelitis optica spectrum disorder(NMOSD).In Q1 2023,Procysbi,along with Quinsair,Actimmune,Ravicti,and Burhenyl,collectively generated$172 million in revenue.Effect of Abrysvo revenue on companys profitFabrys disease Fabrys disease is a genetic condition caused by the accumulation of a type of fat called globotriaosylceramide in the bodys cells.This buildup starts in childhood and leads to a range of symptoms affecting various parts of the body.Key features of Fabrys disease include episodes of pain,particularly in the hands and feet(acroparesthesias);small,dark red spots on the skin known as angiokeratomas;reduced sweating(hypohidrosis);cloudy or streaked vision in the front of the eye(corneal opacity or corneal verticillata);gastrointestinal issues;ringing in the ears(tinnitus);and hearing loss.Symptoms can vary widely among individuals.Company Name:SpliceBioDrug class:Gene therapiesMoA:ABCA4 protein modulators;Gene transferenceIndication:Stargardt diseaseDrug:SB007Company Name:Horizon TherapeuticsDrug class:Interferons,Small moleculesIndications:chronic granulomatous disease(CGD),urea cycle disorders,gout,nephropathic cystinosis,thyroid eye disease,neuromyelitis optica spectrum disorder(NMOSD)Top Revenue-Generating Drugs:Procysbi,Quinsair,Actimmune,Ravicti and Burhenyl combined revenue of$172 million in Q12023.Fabrys disease:Genetic disorder causing globotriaosylceramide buildup in cells.Prevalence:1 in 1,000 and 9,000 people14Company Name:Rocket PharmaceuticalsTechnology:Gene therapiesIndication:Danon diseaseDrug:RP-A501Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders In addition to these symptoms,Fabrys disease can lead to serious complications such as progressive kidney failure,heart failure,and stroke.Some individuals experience milder forms of the disease that may only affect the heart,kidneys,or blood vessels in the brain and typically emerge later in life.Prevalence Fabrys disease is estimated to affect between 1 in 1,000 and 9,000 people.The milder,late-onset variants of the disorder are likely more prevalent than the classic,severe form.Causes Fabrys disease is caused by mutations in the GLA gene,which provides instructions for producing the enzyme alpha-galactosidase A.This enzyme,located in lysosomescell structures responsible for recycling materialsnormally breaks down a fatty substance called globotriaosylceramide.Mutations in the GLA gene alter the enzymes structure and function,impairing its ability to break down this fatty substance.Consequently,globotriaosylceramide accumulates in cells throughout the body,especially in cells lining blood vessels,as well as in the kidneys,heart,and nervous system.This buildup progressively damages the cells,leading to the various symptoms of Fabrys disease.Mutations in the GLA gene that completely disrupt alpha-galactosidase A activity cause the classic,severe form of Fabrys disease.In contrast,mutations that reduce but do not eliminate the enzymes activity generally result in the milder,late-onset forms of the disease,which usually affect only the heart,kidneys,or brain blood vessels.How is Fabrys disease treated?There is no cure for Fabrys disease,but treatments can manage symptoms and prevent complications.Options include:1.Enzyme Replacement Therapy(ERT):Example-Agalsidase beta(Fabrazyme).2.Oral Chaperone Therapy:Example-Migalastat(Galafold).Marketed drugsTable 2a-Marketed drugs for Fabrys diseaseDrugCompanyDrug ClassMechanism of actionPhaseMarketedAgalsidase alfa(Replagal)Shire(Originator),Takeda(Owner)Galactosidases;IsoenzymesAlpha-galactosidase stimulantsMarketedAgalsidase beta biosimilar(Fabagal)ISU Abxis(Originator,Owner)Recombinant proteinsAlpha-galactosidase replacementsMarketedMigalastat (Galafold)Amicus Therapeutics(Originator,Owner)Small moleculesAlpha-galactosidase A transport stimulants,Protein folding stabiliserMarketedAgalsidase beta biosimilarJCR Pharmaceuticals(Originator,Owner)Recombinant proteinsAlpha-galactosidase replacementsMarketedAgalsidase beta(Fabrazyme)Genzyme Canada(Originator),Sanofi(Owner)Recombinant proteinsAlpha-galactosidase replacementsM Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersAgalsidase beta(Fabrazyme)Originator-Genzyme Canada;Genzyme CorporationDeveloper-Icahn School of Medicine at Mount Sinai;SanofiClass-Recombinant proteinsMoA-Alpha-galactosidase replacements Regulatory milestones for FabrazymeFive years of market revenue for Fabrazyme Analysis over the past five years reveals a consistent increase in Fabrazymes market revenue,though there was a decline in Q1 2024.However,an upward trend is anticipated in the coming months.Revenue trend analysis of FabrazymeFig 7:Market revenue for Fabrazyme(2020 Q12024)years.0200400600800100012002020202120222023Q1 2024US$millionsYearsFabrazymeIndication:Fabrys diseaseMarketed in:US,Canada,China,South Korea,Brazil,Chile,Argentina,Mexico,Malaysia,Hong Kong,Russia,the EU,Switzerland,Turkey and India Revenue 2023:$1,081.23 million162004Launched in US,South Korea,Canada and Japan2001Launched for Fabrys disease throughout the EUMarketedRegisteredRegulatory submission Launched in Brazil,Chile,Argentina,Mexico,Malaysia,Turkey,Russia,Switzerland,Hong Kong,India,Norway,Iceland,Israel,Australia and New Zealand2015Orphan drug statusReceived Orphan drug status in Australia and JapanJan 2008Received Orphan drug status in USAAug 2001Received Orphan drug status in European UnionAug 2000Before Oct.2021Launched in China,In December 2019 Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Migalastat(Galafold)Originator-Amicus Therapeutics Class-Small molecules MoA-Alpha-galactosidase A transport stimulants;Protein folding stabilizer.Regulatory milestones for Migalastat(Galafold)Five years of market revenue for GalafoldAnalysis over the past five years shows a steady rise in Galafolds market revenue.While there was a decline in Q1 2024,revenue is expected to increase in the upcoming months.Revenue trend analysis of GalafoldFig 8:Market revenue for Galafold(2020 Q12024)MarketedRegisteredRegulatory submission Launched in Belgium,Denmark,Finland,France,Germany,Ireland,Italy,Japan,Australia,USA,Norway,Spain,United Kingdom in 2018 and Netherlands in 2019 in patients aged 16 years and older2018 and 2019Orphan drug statusReceived Orphan drug status in United KingdomDec 2023Aug 2019Approved in Argentina,European Union,Iceland,Liechtenstein,South Korea in patients aged 12 years and older in patients 12 years and olderJul 2017Approved in Israel,Switzerland for the treatment of Fabrys diseaseReceived Orphan drug status in JapanFeb 2016Received Orphan drug status in European UnionMay 2006Received Orphan drug status in USAMar 20040501001502002503003504004502020202120222023Q1 2024US$millionsYearsGalafoldIndication:Fabrys diseaseMarketed in:Australia,Germany,France,Italy,Japan,Spain,the US,Norway,Netherlands,Ireland,Denmark,Belgium,Finland and the UK Revenue 2023:$387.8 Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders18DrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentAL 1211)AceLink Therapeutics(Originator,Owner)Small moleculesGlucosylceramide synthase inhibitorsPhase IINon-inhibitory chaperone Relay Therapeutics(Originator,Owner)Pharmacological chaperonesAlpha-Galactosidase modulatorsPreclinicalBriquilimab Amgen(Originator,Owner)Monoclonal antibodiesProto oncogene protein c-kit inhibitorsPreclinicalGC 1134AGC Pharma(Originator,Owner)Recombinant proteinsUndefined mechanismResearchRecombinant alpha-galactosidase Eleva(Originator,Owner)Enzymes;Recombinant proteinsAlpha-galactosidase replacementsPhase IAMT 191uniQure(Originator,Owner)Gene therapiesAlpha-galactosidase replacements,Gene transferencePhase I/IIAgalsidase beta biosimilar GENERIUM Pharmaceuticals(Originator,Owner)Galactosidases;Glycoproteins;Isoenzymes;Recombinant proteinsAlpha-galactosidase replacementsPhase IIsaralgagene civaparvovec Sangamo Therapeutics(Originator,Owner)Gene therapiesAlpha-galactosidase replacements,Gene transferencePhase I/IIPegunigalsidase alfa Protalix Biotherapeutics(Originator,Owner)Enzymes;Galactosidases;Recombinant proteinsAlpha-galactosidase replacementsRegisteredVenglustat Genzyme Corporation(Originator),Sanofi(Owner)Small moleculesGlucosylceramide synthase inhibitorsPhase III4D 3104D Molecular Therapeutics(Originator,Owner)Gene therapiesAlpha-galactosidase replacements,Gene transferencePhase I/IIDrugs in development for the treatment of Fabrys disease:There are currently 26 drugs in active development for treatment of Fabrys disease,of which 9 are in clinical development while the rest are in preclinical or research phase.The drug classes being developed range from traditional small molecule therapies to biologics like monoclonal antibodies,recombinant proteins,enzymes,gene therapies,cell therapies and novel pharmacological chaperones.Many drug moieties that were under development have now been discontinued or have no progress reported in over 5 years.Drugs in DevelopmentRegistered:1 drugClinical:9 drugsPreclinical:10 drugsResearch:6 drug Discontinued:11 drugsSuspended drugs:1 drugNo development reported:12 drugsRare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders DrugCompanyDrug ClassMechanism of actionPhaseResearch programme:liver-directed gene therapies Spark Therapeutics(Originator,Owner)Gene therapiesGene transferenceResearchLucerastat Actelion Pharmaceuticals(Originator),Idorsia Pharmaceuticals(Owner)Small moleculesGlucosylceramide synthase inhibitorsPhase IIICAN 201CANbridge Pharmaceuticals(Originator,Owner)Gene therapiesGene transferencePreclinicalSKG 0402Skyline Therapeutics(Originator,Owner)Gene therapiesAlpha-galactosidase replacementsPreclinicalSIG 007Sigilon Therapeutics(Originator,Owner)Cell therapiesCell replacementsPreclinicalSIG 207Sigilon Therapeutics(Originator,Owner)Cell therapies;Gene therapiesCell replacements,Galactosidase stimulantsResearchAgalsidase beta biosimilar Bio Sidus S.A.(Originator,Owner)Recombinant proteinsAlpha-galactosidase replacementsPhase IIIResearch programme:pharmacological chaperones,enzyme replacements and co-formulations Amicus Therapeutics(Originator,Owner)Small moleculesAlpha glucosidase replacements,Protein folding stimulants,Iduronidase replacements,Glucosylceramidase replacementsResearchM 052M6P Therapeutics(Originator,Owner)Gene therapiesAlpha-galactosidase replacementsPreclinicalLong-acting alpha-galactosidase GC Biopharma(Originator,Owner),Hanmi Pharmaceutical(Originator,Owner)Recombinant proteinsAlpha-galactosidase replacementsPreclinicalYH 36425Yuhan(Originator,Owner)UnknownGlucosylceramide synthase inhibitorsResearchCAN 104WuXi Biologics(Originator,Owner)EnzymesEnzyme replacementsP Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders20DrugCompanyDrug ClassMechanism of actionPhaseAL 2AceLink Therapeutics(Originator,Owner)UnknownUndefined mechanismPreclinicalYHC 1116Yuhan(Originator,Owner)Recombinant proteinsGlucosylceramide synthase inhibitorsResearchM 051M6P Therapeutics(Originator,Owner)UnknownEnzyme replacementsPreclinicalNo development reportedResearch programme:AAV vector based gene therapies University of North Carolina at Chapel Hill(Originator,Owner)Gene therapiesGene transferenceNo development reportedApabetalone-Resverlogix CorporationResverlogix Corporation(Originator,Owner)Small moleculesBromodomain and extraterminal domain protein inhibitors,Virus internalisation inhibitorsNo development reportedYH NCE10Yuhan(Originator,Owner)UnknownUndefined mechanismNo development reported(Research)Research programme:mRNA therapeutics-Translate BioRaNA Therapeutics(Originator),Translate Bio(Owner)Hepatoprotec-tants;RNARNA modulators,Protein synthesis stimulantsNo development reportedAT GTX 701Amicus Therapeutics(Originator,Owner)Gene therapiesGene transferenceNo development reported(Preclinical)AMT 190uniQure(Originator,Owner)Gene therapiesGene transferenceNo development reported(Preclinical)Recombinant human alpha galactosidase AGreen Cross(Originator),GC Biopharma(Owner)Recombinant proteinsAlpha glucosidase replacementsNo development reported(I)Alpha-galactosidase gene therapy Genzyme Corporation(Originator),Sanofi(Owner)Gene therapiesAlpha-galactosidase stimulantsNo development reported(Preclinical)Genz 682452Genzyme Corporation(Originator),Sanofi(Owner)Small moleculesUndefined mechanismNo development reported(I)Alpha-galactosidase Greenovation Biotech(Originator,Owner)Recombinant proteinsAlpha-galactosidase replacementsNo development reported(I)Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders DrugCompanyDrug ClassMechanism of actionPhaseResearch programme:rare disease mRNA therapeutics Moderna Therapeutics(Originator,Owner)Antihaemorrha-gics;RNAProtein synthesis stimulants,Alpha-galactosidase stimulantsNo development reported(Preclinical)Research programme:Fabrys disease therapeutics Evotec AG(Originator),Shire(Originator),Evotec SE(Owner),Takeda(Owner)Small moleculesUndefined mechanismNo development reported(Research)Discontinued and SuspendedCDX 6311Codexis(Originator,Owner)Gene therapiesAlpha-galactosidase replacements,Gene transferenceDiscontinued(Preclinical)AVR RD 01AVROBIO(Originator),Tectonic Therapeutic(Owner)Gene therapies;Haematopoietic stem cells therapiesAlpha-galactosidase replacements,Gene transferenceDiscontinued(II)FLT 190University College London(Originator,Owner)Gene therapiesAlpha-galactosidase replacements,Gene transferenceSuspended(II)xB3 004MedImmune(Originator),AstraZeneca(Owner)Recombinant fusion proteinsInterleukin 1 receptor antagonistsDiscontinued(Preclinical)Research programme:recombinant protein therapeutics Transgenic Rabbit Models(Originator),Pharming Group NV(Owner)Recombinant proteinsAlpha glucosidase replacements,Alpha-galactosidase replacementsDiscontinued(Preclinical)M 053M6P Therapeutics(Originator),M6P Therapeutics(Owner)Gene therapiesAlpha-galactosidase replacements,Gene transferenceDiscontinued(Preclinical)Genz 78132University of Michigan(Originator),Sanofi(Owner)Small moleculesGlucosylceramide synthase inhibitorsDiscontinued(Preclinical)Alpha-galactosidase A Research Corporation Technologies(Originator,Owner)Recombinant proteinsAlpha-galactosidase replacementsDiscontinued(Preclinical)Research programme:alpha-galactosidase Large Scale Biology Corporation(CEASED)(Originator)ProteinsEnzyme replacementsDiscontinued(Preclinical) Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersTable 2b-Drugs in development for Fabrys disease Angelman syndrome Angelman syndrome is a complex genetic disorder primarily impacting the nervous system.It is characterized by delayed development,intellectual disability,severe speech impairment,ataxia,recurrent seizures,and microcephaly.Symptoms typically become noticeable by 6 to 12 months of age and include a happy demeanor,frequent laughter,hand-flapping,hyperactivity,short attention span,and sleep issues.As individuals with Angelman syndrome age,their excitability and sleep problems usually improve,though intellectual disability,speech impairment,and seizures persist.Adults often exhibit distinctive facial features,fair skin,light-colored hair,and scoliosis.Life expectancy is generally normal.PrevalenceAngelman syndrome affects approximately 1 in 12,000 to 20,000 individuals.CausesAngelman syndrome often results from the loss of function of the UBE3A gene.Normally,people inherit one UBE3A gene from each parent,with only the maternal copy active in neurons due to genomic imprinting.If the maternal UBE3A gene is deleted or mutated,it can lead to Angelman syndrome.Around 70%of cases involve a deletion on maternal chromosome 15,while 10-20%are due to mutations in the maternal UBE3A gene.In rare cases,the syndrome is caused by inheriting two paternal chromosome 15s(paternal uniparental disomy)or other genetic anomalies affecting UBE3A activation.In 10-15%of cases,the cause remains unknown,and other genetic factors may be involved.Additionally,some individuals with Angelman syndrome may have light hair and skin due to the loss of the OCA2 gene,which is not responsible for the primary symptoms of the syndrome.Drugs in development for the treatment of Angelman syndrome As of August 2024,there are 8 drugs in development for Angelman syndrome,of which six are in clinical phase while one drug each in preclinical and research phases.The drugs being developed are predominantly small molecules,antisense oligonucleotides and gene therapies targeting UBE3A protein expression.22DrugCompanyDrug ClassMechanism of actionPhaseResearch programme:Fabrys disease plant-produced protein therapeutics iBio Inc(Originator,Owner)ProteinsEnzyme replacementsDiscontinued(Preclinical)Chaperone-enzyme replacement therapy product Amicus Therapeutics(Originator,Owner)Small moleculesAlpha-galactosidase stimulants,Protein folding stimulantsDiscontinued(Preclinical)Lysosomal storage disease gene therapy Avigen(Originator,Owner)Gene therapiesEnzyme replacements,Gene transferenceDiscontinued(Preclinical)Angelman syndrome:Genetic disorder primarily impacting the nervous system.Prevalence:1 in 12,000 to 20,000 peopleDrugs in DevelopmentClinical:6 drugsPreclinical:1 drugResearch:1 drugDiscontinued:3 drugsSuspended drugs:2 drugsNo development reported:13 drugsRare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders DrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentBlarcamesine Anavex Life Sciences(Originator,Owner)Small moleculesMuscarinic receptor modulators,Sigma-1 receptor agonistsPhase IION 582Ionis Pharmaceuticals(Originator,Owner)Antisense oligonucleotidesRNA interference,UBE3A protein expression stimulantsPhase I/IIGTX 102Texas A&M AgriLife Research(Originator),Texas A&M University(Originator,Owner),Texas A&M AgriLife Research(Owner),Texas A&M University(Owner)Antisense oligonucleotidesGene silencing,UBE3A protein expression stimulantsPhase IIINNZ 2591Neuren Pharmaceuticals(Originator,Owner)Small moleculesCell death inhibitors,Neuropeptide receptor modulators,Synaptic transmission modulators,Symporter modulatorsPhase IINNZ 2591Neuren Pharmaceuticals(Originator,Owner)Small moleculesCell death inhibitors,Neuropeptide receptor modulators,Synaptic transmission modulators,Symporter modulatorsPhase IIAMT 191uniQure(Originator,Owner)Gene therapiesAlpha-galactosidase replacements,Gene transferencePhase I/IIAngelman syndrome gene therapyEncoded Therapeutics(Originator,Owner)Gene therapiesUBE3A protein expression modulatorsPreclinicalGXV 001Takeda(Originator,Owner)UnknownUndefined mechanismPhase IBIO 017Biom Therapeutics(Originator,Owner)CannabinoidsG-protein-coupled receptor 55 modulators,TRPV1 receptor agonistsPhase IResearch programme:neurological disorder therapiesFoundation for Angelman Syndrome Therapeutics(Originator,Owner),Healx(Originator,Owner)UnknownUndefined mechanismResearchNo development reportedResearch programme:topoisomerase inhibitors University of North Carolina at Chapel Hill School of Medicine(Collaborator)UnknownDNA topoisomerase inhibitorsNo development reported(Research)NSI 189Neuralstem(Originator)Small moleculesNeurogenesis stimulantsNo development reported(Preclinical)NRP 2945Calzada(Originator),Neuren Pharmaceuticals(Originator),CuroNZ(Owner)NeuropeptidesCXCR4 receptor modulators,Neuron stimulantsNo development reported(Research) Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders24DrugCompanyDrug ClassMechanism of actionPhaseLB 100Lixte Biotechnology Holdings(Originator,Owner)Small moleculesProtein phosphatase 2A inhibitorsNo development reported(Preclinical)PD 158780New York University(Originator,Owner),Pfizer(Originator,Owner)Small moleculesERBB 4 receptor antagonists,Protein tyrosine kinase inhibitors,Epidermal growth factor receptor antagonistsNo development reported(Preclinical)Ganaxolone Purdue Pharma(Originator,Owner)Small moleculesGABA A receptor modulatorsNo development reported(Preclinical)TGTX 106University of North Carolina at Chapel Hill(Originator,Owner),University of Texas Southwestern Medical Center(Originator,Owner)RNARNA interference,UBE3A protein expression stimulantsNo development reported(Preclinical)Angelman syndrome gene therapiesUniversity of North Carolina at Chapel Hill(Originator,Owner)Gene therapiesGene transference,UBE3A protein expression stimulantsNo development reported(Preclinical)OV 881Ovid Therapeutics(Originator,Owner)Gene therapiesRNA interference,UBE3A protein expression stimulantsNo development reported(Research)STRX 220StrideBio(Originator,Owner)Gene therapiesGene transference,UBE3A protein expression stimulantsNo development reported(Research)GTX 101Texas A&M AgriLife Research(Originator,Owner),Texas A&M University(Originator,Owner)Antisense oligonucleotidesGenetic transcription inhibitorsNo development reported(Preclinical)Short hairpin RNA based gene therapy Ovid Therapeutics(Originator,Owner)Gene therapiesGene transference,UBE3A protein expression stimulantsNo development reported(Research)ION 581Baylor College of Medicine(Originator),Isis Pharmaceuticals(Originator),Ionis Pharmaceuticals(Owner)Antisense oligonucleotidesGenetic transcription inhibitorsNo development reported(Preclinical)Discontinued and SuspendedResearch programme:cognitive disorder gene therapyUniversity of South Florida(Originator,Owner)Gene therapiesGene transference,Ubiquitin-protein ligase expression stimulantsDiscontinued(Preclinical)Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Kabuki syndrome:Disorder with distinctive facial features resembling traditional Japanese Kabuki theater makeup.Prevalence:1 in 32,000 newbornsTable 3-Drugs for Angelman SyndromeKabuki syndromeKabuki syndrome is a disorder with distinctive facial features resembling traditional Japanese Kabuki theater makeup,including arched eyebrows,long eyelashes,wide eyelid openings with everted lower lids,a flat nasal tip,and protruding earlobes.It can cause developmental delays,intellectual disabilities,seizures,microcephaly,hypotonia,and visual problems like nystagmus or strabismus.Other common traits include short stature,skeletal abnormalities(such as scoliosis),cleft palate,dental issues,and unusual fingerprints with prominent fetal finger pads.Additional health concerns may include heart defects,frequent ear infections,hearing loss,and early puberty.Prevalence Kabuki syndrome affects about 1 in 32,000 newborns.Causes Kabuki syndrome is caused by mutations in the KMT2D gene(55-80%of cases)or the KDM6A gene(2-6%of cases).The KMT2D gene produces lysine-specific methyltransferase 2D,which adds methyl groups to histones,regulating gene activity important for development.The KDM6A gene produces lysine-specific demethylase 6A,which removes these methyl groups.Mutations in either gene disrupt this process,leading to developmental abnormalities.In some cases,the specific genetic cause is not identified,and diagnosis is based on the syndromes characteristic featuresDrugs in development for the treatment of Kabuki syndromeAs of August 2024,only one small molecule drug is in preclinical development.DrugCompanyDrug ClassMechanism of actionPhaseResearch programme:SNA based therapeuticsAuraSense Therapeutics(Originator),Exicure(Owner)Nucleic acidsNav1.7 voltage-gated sodium channel modulators,HD protein inhibitors,Gene modulators,Immunomodulators,Immunosuppressants,Survival of motor neuron 2 protein expression stimulants,CLN3 protein expression modulators,Interleukin 4 receptor modulators,Interleukin 1 beta modulatorsSuspended(Preclinical)Gaboxadol Max Planck Institute of Psychiatry(Originator,Owner)Small moleculesGABA A receptor agonistsDiscontinued(III)OV 882Ovid Therapeutics(Originator,Owner),University of Connecticut(Owner)Gene therapiesGene transference,RNA interference,UBE3A protein expression stimulantsSuspended(Preclinical)RugonersenRoche(Originator,Owner)Antisense oligonucleotidesUBE3A protein expression stimulantsDiscontinued(I)25Drug in DevelopmentPreclinical:1 Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersTable 4-Drug for Kabuki syndromeAlstroms Syndrome Alstrom syndrome is a rare disorder affecting multiple body systems,with symptoms often starting in infancy or early childhood but sometimes appearing later in life.Key features include progressive vision and hearing loss,dilated cardiomyopathy(a type of heart disease),obesity,type 2 diabetes,and short stature.It can also lead to severe issues with the liver,kidneys,bladder,and lungs.Some individuals may develop acanthosis nigricans,which causes thick,dark,velvety skin in body folds.The severity and range of symptoms can vary,and not everyone with the condition exhibits all the typical features.Prevalence Over 900 cases of Alstroms syndrome have been documented globally.Causes Alstroms syndrome is caused by mutations in the ALMS1 gene.This gene encodes a protein with an unclear function.Mutations likely result in a shortened,nonfunctional version of the ALMS1 protein.Since this protein is normally found in low levels across various tissues,its loss of function may contribute to the wide-ranging symptoms of Alstroms syndrome.Drugs in development for the treatment of Alstroms Syndrome(discontinued)There was only one drug for the treatment of Alstroms syndrome,developed by ProMetic Life Sciences.This drug was discontinued early in phase II/III development in 2022 due to the reassignment of study site staff during the COVID-19 pandemic.Table 5-Drugs for Alstroms syndromeDrugs in DevelopmentDiscontinued:1 drugDrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentFezageprasProMetic Life Sciences(Originator)Small moleculesAmmonia scavengers;AMP activated protein kinase modulators;Autophagy stimulants;Cell differentiation modulators;Colony stimulating factor stimulants;Cytokine modulators;Erythropoiesis stimulants;Extracellular matrix protein inhibitors;FFAR1 protein stimulants;GPR84 protein antagonists;Immunomodulators;Inflammation mediator inhibitors;MTOR protein inhibitors;MTOR protein modulators;PPAR alpha modulatorsDiscontinued(Phase II/III)26DrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentDabrafenibRescindo Therapeutics(Originator)Small moleculesProto oncogene protein b raf inhibitorsPreclinicalAlstrom syndrome:Affecting multiple body systems,with symptoms often starting in infancy or early childhood but sometimes appearing later in life.Prevalence:over 900 cases globallyRare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Job syndrome Autosomal dominant hyper-IgE syndrome(AD-HIES),previously known as Job syndrome,primarily impacts the immune system.Individuals with AD-HIES frequently experience recurrent infections,especially pneumonia caused by specific bacteria,leading to inflammation and lung cysts.Skin issues such as eczema,rashes,blisters,and abscesses are also common.People with AD-HIES have unusually high levels of immunoglobulin E(IgE)in their blood,although the reason for this elevation is unclear and does not relate to typical allergic responses.The condition can also affect bones and teeth,leading to joint hyperextensibility,scoliosis,reduced bone density,and easy fractures.Dental issues include delayed loss of primary teeth.Other potential features include abnormalities in coronary arteries,distinctive facial characteristics,and structural brain changes that do not impact intelligence.Prevalence AD-HIES is rare,affecting fewer than 1 in a million people globallyCauses Most cases of AD-HIES are caused by mutations in the STAT3 gene,which is crucial for regulating immune system functions.The STAT3 protein helps control gene activity by binding to DNA and is essential for T cell maturation.Mutations in STAT3 disrupt this process,leading to immune deficiencies and increased susceptibility to bacterial and fungal infections,especially in the lungs and skin.The protein also influences bone and dental tissue,contributing to the skeletal and dental issues seen in AD-HIES.The exact mechanism behind elevated IgE levels in this condition is unclear.Mutations in the ZNF341 gene can cause a similar disorder with autosomal recessive inheritance,unlike the autosomal dominant inheritance seen with STAT3 mutations.The ZNF341 protein regulates STAT3,so mutations in ZNF341 lead to reduced STAT3 levels and similar immune system problems.Other genetic mutations may also cause AD-HIES but are not yet clearly identified.Drugs in development for the treatment of Job syndrome Of the two drugs in development for Job syndrome,one is a gene therapy in the research phase while the other is a monoclonal antibody in early-stage clinical development.Table 6-Drugs for job syndromeAutosomal dominant hyper-IgE syndrome:Impacts the immune systemPrevalence:1 in a million people Drugs in DevelopmentResearch:1 drugClinical:1 drugDrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentFB 825Academia Sinica(Originator),Academia Sinica(Owner)Monoclonal antibodiesAntibody-dependent cell cytotoxicity;Apoptosis stimulantsPhase IIResearch programme:hyper IgE syndrome gene therapies-CellectisCellectis(Originator),Cellectis(Owner)Gene therapiesGene transferenceR Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersCerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis is a rare autosomal recessive genetic disorder where fats(lipids)accumulate abnormally in the body due to the ineffective breakdown of certain lipids,particularly cholesterol.This leads to the formation of yellow fatty nodules called xanthomas,mainly in the brain and tendons(connective tissues attaching muscle to bone).The disorder often causes neurological issues in early adulthood,such as seizures,movement disorders,speech problems,loss of sensation,cognitive decline,hallucinations,and depression.Xanthomas can damage myelin,the protective layer around nerves,leading to disrupted brain signaling and brain tissue degeneration.Tendon xanthomas usually develop in early adulthood,commonly in tendons of the hands,elbows,knees,neck,and Achilles tendon.They can cause discomfort and reduce tendon flexibility,though they may not always be visible.Other symptoms include cataracts,chronic diarrhea in childhood,reduced bile production(leading to jaundice),and osteoporosis.This condition also increases the risk of cardiovascular and respiratory diseases.Without treatment,symptoms worsen over time,but they can vary greatly among individuals.Prevalence Cerebrotendinous xanthomatosis occurs in about 1 in 1 million people globally.However,it is significantly more prevalent among the Moroccan Jewish population,affecting approximately 1 in 108 individuals.CausesMutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis by disrupting the production of sterol 27-hydroxylase,an enzyme crucial for converting cholesterol into chenodeoxycholic acid,a bile acid important for fat digestion.Without functional sterol 27-hydroxylase,the body produces cholestanol and bile alcohols instead.These molecules,which accumulate in the blood and various tissues including the brain and heart,contribute to the formation of xanthomas and the symptoms of the disorder.Drugs in development for the treatment of Cerebrotendinous xanthomatosis Among the three drugs being developed for cerebrotendinous xanthomatosis,one is an approved small molecule,another small molecule is awaiting approval while a gene therapy is in the preclinical phase of development.Table 7-Drugs for cerebrotendinous xanthomatosisCerebrotendinous xanthomatosis:Autosomal recessive genetic disorder where fats(lipids)accumulate abnormally in the bodyPrevalence:1 in 1 million people Drugs in DevelopmentRegistered:1 drugPreregistered:1 drugPreclinical:1 drugDrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentChenodeoxycholic acidDr Falk Pharma(Originator),Leadiant Biosciences(Owner)Small moleculesCholesterol modulators,Cholesterol synthesis inhibitorsRegisteredChenodeoxycholic acidMirum Pharmaceuticals(Originator,Owner)Small moleculesCholesterol modulators,Cholesterol synthesis inhibitorsPreregistrationVTX 806Vivet Therapeutics(Originator,Owner)Gene therapiesCYP27A1 protein replacements,Gene transferencePreclinical28Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Cockayne syndrome:Genetic disorder marked by microcephaly,failure to thrive,and delayed development,with symptoms usually emerging in infancy and worsening over timePrevalence:2 to 3 out of every million newborns in the United States and EuropeDrugs in DevelopmentClinical:1 drugDiscontinued:2 drugsNo development reported:1 drugCockayne syndrome Cockayne syndrome is a rare genetic disorder marked by microcephaly,failure to thrive,and delayed development,with symptoms usually emerging in infancy and worsening over time.Affected individuals often experience photosensitivity,with even minimal sun exposure causing sunburn or blistering.Other symptoms may include hearing and vision loss,severe tooth decay,bone abnormalities,cold extremities,and brain changes visible on scans.Patients with Cockayne syndrome can have severe reactions to the antibiotic metronidazole,potentially leading to life-threatening liver failure.The syndrome is sometimes classified into types I,II,and III based on severity and age of onset,though these distinctions can be unclear.Type II,also known as cerebro-oculo-facio-skeletal(COFS)syndrome,is debated as either a separate condition or part of the Cockayne syndrome spectrum.Prevalence Cockayne syndrome is estimated to occur in 2 to 3 out of every million newborns in the United States and Europe.Causes Cockayne syndrome is caused by mutations in the ERCC6(CSB)or ERCC8(CSA)genes,which are crucial for DNA repair.These genes help fix DNA damage from UV rays,toxins,radiation,and free radicals.In Cockayne syndrome,DNA repair is impaired,leading to cell malfunction and death.This faulty repair contributes to photosensitivity and other symptoms of the condition.The exact way mutations in ERCC6 or ERCC8 lead to the various features of Cockayne syndrome is still unclear.Drugs in development for the treatment of Cockayne syndromeAs of August 2024,one cell therapy is in phase I development for the treatment of Cockayne syndrome,while two other drugs have been discontinued.Table 8-Drugs for cockayne syndromeDrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentIMC 2032ImmuneCyte(Originator,Owner)Cell therapiesCell replacementsPhase INo development reportedResearch programme:extracorporeal antibody therapiesPremier Biomedical(Originator,Owner)Monoclonal antibodiesCytokine inhibitors,Immunomodulators,Neurotransmitter modulators,Glutamate modulators,Neurotransmitter inhibitors,Tau protein inhibitorsNo development reported(Preclinical)DiscontinuedMannitol/prolineDNage(Originator,Owner)Small moleculesAntioxidants,Free radical scavengers,Oxygen radical scavengersDiscontinued(I)Nicotinamide ribosideCornell University(Originator,Owner),Dartmouth College(Originator,Owner),Washington University(Originator,Owner)Small moleculesNicotinamide adenine dinucleotide modulatorsDiscontinued(Preclinical) Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersProgeriaHutchinsonGilford progeria syndrome(HGPS)is a rare,genetic disorder characterized by early aging in children.The disease is named after two scientists(Jonathan Hutchinson in 1886 and Hastings Gilford in 1897)who independently outlined and explained the syndrome.A premature aging condition comprises genetic mutations,resulting in devastating phenotypic traits such as short stature,low body weight,early loss of hair,lipodystrophy,scleroderma,decreased joint mobility,osteolysis,and facial features that look like aged persons.These children demonstrate normal motor and mental development.Death occurs within 6-20 years probably due to complications of serious atherosclerosis,either cardiac disease(myocardial infarction or heart failure)or cerebrovascular disease(stroke).Lonafarnib,a farnesyltransferase inhibitor is the only FDA-approved treatment for HGPS that increases lifespan by an average of 4.3 years.Prevalence HGPS affects all genders and all races equally.The estimated frequency of HGPS is approximately 1 in 20 million,so Progeria affects around 400 children globally at any given time.According to the Progeria Research Foundation International Progeria Registry,as of December 2020,131 children and young adults living with progeria have been identified globally including 20 living in the US.Causes Lamin A,a protein encoded by the LMNA gene,maintains nuclear stability and genome integrity.In HGPS,mutations in lamin A destabilize the nucleus and cause DNA damage,leading to accelerated aging.The LMNA gene codes for lamin A,lamin C,and lamin 10,which are crucial for cell functions such as division and transcription.A specific mutation creates a cryptic splice site,resulting in the production of progerin instead of normal lamin A.Progerin disrupts nuclear function,causing tissue and organ deterioration and premature aging.Marketed drugsTable 9a-Marketed drug for progeriaPromising new treatment on the horizon for progeriaHGPS is a rare,incurable disease,and efforts are underway to address the accumulation of farnesylated progerin.Research from Karolinska Institutet and the Institute for Basic Science has shown that short-term gene editing can repair the mutation-causing progeria.Studies by Beyret et al.and Santiago-Fernndez et al.have used CRISPR-Cas9 to reduce lamin A/progerin levels by targeting the HGPS mutation,but this method has led to frameshift mutations in the LMNA gene,limiting its effectiveness.A promising new approach involves the adenine base editor(ABE),which converts AT to GC in DNA.Koblan et al.utilized an optimized ABE7.10 variant with sgRNA targeting the c.1824 C T mutation in LMNA,achieving 90%correction of the mutated genes in HGPS cells.This led to normal lamin A splicing,reduced progerin expression,and significant correction of abnormal nuclear morphology.DrugCompanyDrug ClassMechanism of actionPhaseMarketed drugsLonafarnib(Zokinvy)Schering-Plough(Originator),Merck&Co(Owner)Small moleculesFarnesyltranstransferase inhibitorsMarketed30HutchinsonGilford progeria syndrome:Genetic disorder characterized by early aging in childrenPrevalence:1 in 20 million childrensRare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Lonafarnib(Zokinvy)Originator-Schering-Plough Developer-AnGes;Eiger BioPharmaceuticals,Inc.;Merck&Co;Schering-Plough Class-Small molecules MoA-Farnesyltranstransferase inhibitors Regulatory milestones for Lonafarnib(Zokinvy)Five years of market revenue for ZokinvyLonafarnib,marketed as Zokinvy,is the Companys first FDA-approved product and the only treatment for HGPS,which correlates with the demand for Zokinvy steadily rising worldwide.Market revenue fell in the second quarter of 2023 compared to the same period in 2022,mainly due to a reversal of an inventory accrual for a non-conforming product batch.In the second quarter of 2023,the Company was informed by the vendor that it no longer needed to pay for this non-conforming batch.Revenue trend analysis of Zokinvy Fig 9:Market revenue for Zokinvy(2021-2023)ZokinvyIndication:HutchinsonGilford progeria syndromeMarketed in:USRevenue 2023:$11.9 millionMarketedRegisteredRegulatory submission Launched in Hutchinson-Gilford Progeria Syndrome including progeroid laminopathies;age 1 year and older in the USJan 2021Orphan drug statusReceived Orphan drug status in JapanMar 2023Jan 2024In Japan for Hutchinson-Gilford-Progeria syndrome and processing-defcient progeroid laminopathiesMar 2023In progeria and progeroid laminopathies progeria under cohort ATU program(Temporary Use Authorization)in European Union,France,Iceland,Liechtenstein,Norway,United KingdomReceived Orphan drug status in European UnionDec 2018Received Orphan drug status in USAApr 20111111.51212.51313.514202120222023Market revenue in$USD millionY Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersDrugs in DevelopmentClinical:1 drugNo development reported:1 drugDrugs in DevelopmentPreclinical:1 drugNo development reported:2 drugsLesch-Nyhan syndrome:Inborn disorder,involves a deficiency of the hypoxanthine-guanine phosphoribosyl transferase(HPRT)enzymePrevalence:1 in 380,000 people Drugs in development for the treatment of progeriaLonafarnib,developed and patented by Cyclolab as a clear solution,is used to treat the rare genetic disorder Hutchinson-Gilford progeria.Currently,lonafarnib is available as a capsule or liquid suspension,but its bioavailability is very limited due to its extremely low solubility.Therefore,the new formulation,developed by Cyclolab,as a clear liquid may be applied as an oral solution with enhanced bioavailability or as an injectable option.Table 9b-Drugs in development for progeriaLesch-Nyhan syndrome Lesch Nyhan syndrome,a rare inborn disorder,involves a deficiency of the hypoxanthine-guanine phosphoribosyl transferase(HPRT)enzyme.HPRT is an enzyme of the purine salvage pathway responsible for recycling purines by transferring guanine and hypoxanthine into guanosine monophosphate and inosine monophosphate,respectively.The inactivity of the HPRT enzyme increases guanine and hypoxanthine,which in turn convert into uric acid.Based on the severity of enzyme deficiency,lesch nyhan falls towards the severe end of the spectrum,with an enzyme activity of less than 1.5%,demonstrating characteristics such as hyperuricemia,cognitive deficits with global developmental delay,unintentional movements,and self-injury.Lesch Nyhan with an enzyme activity of 8%,includes HPRT-related hyperuricemia,also known as Keeley-Seegmiller syndrome.Irresistible self-injury is the most worrying aspect of Lesch Nyhan syndrome.PrevalenceLesch-Nyhan syndrome affects about 1 in 380,000 people and occurs with similar frequency across different populations.CausesLesch Nyhan syndrome,an X-linked recessive disorder caused by a mutation of the HPRT1 gene,is located at a q2627 position on the long arm of the X chromosome.Over 600 mutations have been found in this single gene,resulting in varying levels of severity that demonstrate a single disease in the spectrum of HPRT enzyme deficiency.Males having defective X chromosomes from the carrier mothers express the disease,while females are mostly carriers but may develop the disease if the healthy X chromosome undergoes lionization,and the defective X chromosome is expressed phenotypically.Drugs in development for the treatment of Lesch-Nyhan syndromeLesch-Nyhan syndrome currently has one small molecule drug in phase III development,with a trial underway to evaluate the efficacy and tolerability of ecopipam for treating self-injurious behavior in 24 patients with the syndrome(PSY102).However,the trial was terminated in November 2013 for commercial reasons.32DrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentLonafarnibCyclolab(Originator,Owner)Small moleculesFarnesyltranstransferase inhibitorsPreclinicalNo development reportedProgerinin PRG Science&Technology(Originator,Owner),Pusan National University(Originator,Owner)Small moleculesNuclear protein inhibitorsNo development reported(I)HBN 2Hibernaid(Originator,Owner)UnknownUndefined mechanismNo development reported(Clinical)Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Colour vision deficiency:Inability to distinguish certain colorsPrevalence:Approximately 5.0%to 8.0%of men and 0.5%to 1.0%of womenDrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentEcopipamSchering-Plough(Originator),Merck&Co(Owner),Emalex Biosciences(Licensee)Small moleculesDopamine D1 receptor antagonistsPhase IIINo development reportedAIP 110Advanced Innovative Partners(Originator,Owner)Imaging agentsPositron-emission tomography enhancersNo development reported(Clinical)Table 10-Drugs for Lesch-Nyhan syndromeColour vision defectsColour vision deficiency,or color blindness,is the inability to distinguish certain colors.While few are completely color blind,most people with this condition can still perceive colors.Colour vision relies on cone cells in the retina,which detect red,green,or blue light.If these cones lack certain pigments,color perception is impaired.The most common deficiency is red-green,where individuals struggle to differentiate between these colors but can still see them.A rarer form is a blue-yellow deficiency,often accompanied by red-green blindness and resulting in neutral or gray vision in place of colors.Achromatopsia,a severe condition,results in seeing only black,white,or gray.Colour vision deficiency can range from mild to severe and affects both eyes if inherited,or one eye if due to injury or illness.PrevalenceColour blindness affects approximately 5.0%to 8.0%of men and 0.5%to 1.0%of women.Since females inherit one X chromosome from each parent,a color-blind father will always pass the colour-blindness gene to his daughters.Causes Colour deficiency is typically inherited through a common X-linked recessive gene passed from mother to son.However,disease or injury that affects the optic nerve or retina can also lead to a loss of color vision.Some diseases that can cause color deficits are:Diabetes Glaucoma Macular Degeneration Alzheimers disease Parkinsons disease Multiple Sclerosis Chronic alcoholism Leukemia Sickle Cell Anemia Other causes of color vision deficiency include:Medications:Drugs used to treat heart problems,high blood pressure,infections,nervous disorders,and psychological problems can affect color vision.Aging:The ability to see colors can gradually lessen with age.Chemical exposure:Contact with certain chemicalssuch as fertilizers and styrenehas been known to cause loss of color Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersDrugs in development for the treatment of Colour vision defects Gene therapy is an experimental approach for treating color blindness,designed to restore normal color vision by introducing the correct alleles for opsin genes.Currently,there are five gene therapies in phase I/II developmentTable 11-Drugs for colour vision deficiencyFibrodysplasia ossificans progressivaFibrodysplasia ossificans progressiva(FOP)is a disorder where muscle and connective tissues,such as tendons and ligaments,are progressively replaced by bone,forming extra-skeletal bone that restricts movement.This process usually begins in early childhood,starting with the neck and shoulders and extending down to the limbs.The formation of extra-skeletal bone limits joint mobility,leading to difficulties with speaking,eating,and potentially malnutrition.Bone growth around the rib cage can also impair breathing.Trauma to muscles,such as falls or medical procedures,can trigger swelling and inflammation(myositis)followed by rapid bone formation in the affected area.Viral illnesses like influenza can also cause flare-ups.Individuals with FOP often have malformed big toes,a distinguishing feature of the disorder.They may also exhibit short thumbs and other skeletal abnormalities.DrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentRevakinagene taroretcelNeurotech USA(Originator,Owner)Gene therapiesCiliary neurotrophic factor replacements,Neurogenesis stimulantsPhase I/IIEntacingene turiparvovecUCL Business(Originator,Owner),MeiraGTx(Licensee)Gene therapiesCNBG3 gene expression stimulants,Gene transferencePhase I/IIAguracingene cadoparvovecUCL Business(Originator,Owner)Gene therapiesGene transferencePhase I/IIrAAV2tYF-PR.1-hCNGA3Applied Genetic Technologies Corporation(Originator),Beacon Therapeutics(Owner)Gene therapiesGene transferencePhase I/IIAGTC 401Applied Genetic Technologies Corporation(Originator),Beacon Therapeutics(Owner)Gene therapiesCNGB3 protein replacements,Gene transferencePhase I/IINo development reportedResearch programme:colour vision defects gene therapyAvalanche Biotechnologies(Originator,Owner),University of Washington(Originator)Gene therapiesGene transferenceNo development reported(Preclinical)Fibrodysplasia ossificans progressiva:Disorder where muscle and connective tissues,such as tendons and ligaments,are progressively replaced by bone,forming extra-skeletal bone that restricts movement.Prevalence:1 in 1 million people34Drugs in DevelopmentClinical:5 drugsNo development reported:1 drugRare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Prevalence Fibrodysplasia ossificans progressiva is an extremely rare disorder,affecting about 1 in 1 million people globally.Only a few hundred cases have been reported.Causes Variants(mutations)in the ACVR1 gene cause fibrodysplasia ossificans progressiva.This gene encodes a protein that is part of the bone morphogenetic protein(BMP)type I receptor family,which is present in tissues like skeletal muscle and cartilage.The ACVR1 protein regulates bone and muscle growth,including the normal process of cartilage turning into bone during skeletal development.Research shows that ACVR1 gene variants disrupt the regulation of this receptor,leading to its activation when it should not be.Excessive receptor activity results in abnormal bone and cartilage growth,producing the symptoms of fibrodysplasia ossificans progressiva.Marketed drugsTable 12a-Marketed drug for fibrodysplasia ossificans progressivaDrugCompanyDrug ClassMechanism of actionPhaseMarketed drugsPalovarotene(Sohonos)Roche(Originator,Owner)Small moleculesRetinoic acid receptor gamma agonistsM Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders36Palovarotene(Sohonos)Originator-RocheDeveloper-Clementia Pharmaceuticals;Ipsen;RocheClass-Small moleculesMoA-Retinoic acid receptor gamma agonistsRegulatory milestones for Palovarotene(Sohonos)Market revenue forecast of SohonosPalovarotene,marketed as Sohonos,is the only drug for FOP.With high demand and projected revenue growth,it is expected to see significant increases in the coming years.MarketedRegisteredRegulatory submission Launched in Canada,USAFeb 2024Launched in United Arab EmiratesJun 2023Orphan drug statusReceived Orphan drug status in Australia for preventing FOPMar 2021Received Orphan drug status in AustraliaJul 2022 Nov 2023In Australia for the treatment of FOP in adults and children aged 8 years and above for females and 10 years and above for malesReceived Orphan drug status in European UnionNov 2014Received Orphan drug status in USA for the treatment ofFibrodysplasia ossifcans progressive(FOP)Jul 2014May 2021Under review regulatory review in the European Union and Switzerland for FOP in adolescents,adults,and childrenSohonosIndication:Fibrodysplasia ossificans progressivaMarketed in:US,Canada,United Arab EmiratesRevenue projection for 2030:$182 million Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Revenue trend analysis of SohonosFig 10:Market revenue for Sohonos(2023-2030)Drugs in development for the treatment of Fibrodysplasia ossificans progressivaAs of August 2024,there are six drugs in development for FOP.One drug is in preclinical development,while the other five are in clinical development.The explored drug classes include traditional small molecule therapies,monoclonal antibodies,and antifungals.37DrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentSaracatinibAstraZeneca(Originator,Owner)Small moleculesSrc-Family kinase inhibitorsPhase IIAndecaliximabGilead Sciences(Originator,Owner)Monoclonal antibodiesMatrix metalloproteinase 9 inhibitorsPreclinicalGaretosmabRegeneron Pharmaceuticals(Originator,Owner)Monoclonal antibodiesActivin inhibitorsPhase IIIZilurgisertibIncyte Corporation(Originator,Owner)Small moleculesACVR1 protein inhibitorsPhase IIFidrisertibBlueprint Medicines(Originator,Owner)Small moleculesACVR1 protein inhibitorsPhase IISirolimusWyeth(Originator),Pfizer(Owner)AntifungalsImmunosuppressants,MTOR protein inhibitors,T lymphocyte inhibitors,Methylmalonyl CoA mutase stimulantsPhase II/IIINo development reportedOD 52Oncodesign Biotechnology(Originator,Owner)Small moleculesACVR1 protein inhibitorsNo development reported(Preclinical)Drugs in DevelopmentClinical:5 drugsPreclinical:1 drugDiscontinued:4 drugsNo development reported:9 drugs257510112614115617218202040608010012014016018020020232024202520262027202820292030Market revenue in$USD millionY Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders38DrugCompanyDrug ClassMechanism of actionPhaseDS 6016Daiichi Sankyo Company(Originator,Owner),Saitama Medical University(Originator,Owner)Monoclonal antibodiesACVR1 protein inhibitorsNo development reported(I)KTI 2338Massachusetts General Hospital(Originator,Owner),National Center for Advancing Translational Sciences(Originator,Owner)Small moleculesACVR1 protein inhibitors,Hepcidin modulatorsNo development reported(Preclinical)Research programme:ALK2 inhibitorsMassachusetts General Hospital(Originator,Owner),National Center for Advancing Translational Sciences(Originator)Small moleculesACVR1 protein inhibitorsNo development reported(Preclinical)Research programme:rare genetic disease therapeuticsBlueprint Medicines(Originator,Owner)Small moleculesActivin receptor modulatorsNo development reported(Preclinical)Research programme:bone morphogenetic protein type-1 receptor antagonist Vanderbilt University Medical Center(Originator,Owner)Small moleculesBone morphogenetic protein receptor type I antagonistsNo development reported(Research)Research programme:bone morphogenetic protein type-1 receptor antagonist La Jolla Pharmaceutical Company(Originator,Owner)UnknownBone morphogenetic protein receptor type I antagonistsNo development reported(Research)Research programme:ALK2 inhibitorsBioCryst Pharmaceuticals(Originator,Owner)Small moleculesACVR1 protein inhibitorsNo development reported(Preclinical)OD 36Oncodesign Biotechnology(Originator,Owner)UnknownActivin modulatorsNo development reported(Research)DiscontinuedKER 047Massachusetts General Hospital(Originator,Owner),Massachusetts General Hospital(Owner)Small moleculesACVR1 protein inhibitorsDiscontinued(II)Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Metachromatic leukodystrophy:Inherited disorder where fats called sulfatides accumulate in cells,particularly affecting nerve cells that produce myelin,the protective substance for nerves.Prevalence:1 in 40,000 to 160,000 people globallyTable 12b-Drugs in development for fibrodysplasia ossificans progressiva Metachromatic leukodystrophyMetachromatic leukodystrophy(MLD)is an inherited disorder where fats called sulfatides accumulate in cells,particularly affecting nerve cells that produce myelin,the protective substance for nerves.This leads to progressive destruction of white matter in the nervous system,impairing both the brain and spinal cord,as well as peripheral nerves.The condition causes a decline in intellectual and motor functions,including walking,and can lead to loss of sensation,incontinence,seizures,paralysis,speech loss,blindness,and hearing loss.Patients may also lose awareness and become unresponsive.The disorder can also affect other organs,notably the gallbladder.The most common type,the late infantile form,affects 50-60%of those with the disorder,typically appearing in the second year of life.It leads to rapid decline,with most children not surviving past childhood.In 20-30%of cases,the juvenile form appears between ages 4 and adolescence,marked by behavioral issues and learning difficulties.This form progresses more slowly,with survival extending up to 20 years after diagnosis.The adult form,affecting 15-20%of individuals,starts in the teenage years or later,often with behavioral or psychiatric symptoms.Survival can be 20-30 years,with periods of stability and decline.The name“metachromatic leukodystrophy”refers to how sulfatide granules in affected cells appear differently when stained under a microscope.PrevalenceMLD is estimated to affect 1 in 40,000 to 160,000 people globally.The condition is notably more prevalent in specific genetically isolated populations:it occurs in 1 in 75 individuals among the Habbanite Jews who immigrated to Israel from southern Arabia,1 in 2,500 people in the western part of the Navajo Nation,and 1 in 8,000 individuals within Arab communities in Israel.CausesMost people with MLD have mutations in the ARSA gene,which produces the enzyme arylsulfatase A,essential for breaking down sulfatides in lysosomes.Some cases involve mutations in the PSAP gene,which affects saposin B,a protein that also helps break down sulfatides.Mutations in either gene reduce the breakdown of sulfatides,leading to their toxic accumulation in cells and damaging the nervous system.In rare cases,individuals with very low arylsulfatase A activity may not show symptoms,a condition known as pseudoarylsulfatase deficiency.39DrugCompanyDrug ClassMechanism of actionPhaseDiscontinuedSqualamineGenaera Corporation(Originator),NeuBase Therapeutics(Owner)Small moleculesAngiogenesis inhibitors,Platelet-derived growth factor inhibitors,Vascular endothelial growth factor C inhibitorsDiscontinued(III)BCX 9250BioCryst Pharmaceuticals(Originator,Owner)Small moleculesACVR1 protein inhibitorsDiscontinued(I)NogginRegeneron Pharmaceuticals(Originator,Owner)Carrier proteinsBone morphogenetic protein-4 inhibitorsDiscontinued(Preclinical) Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry LeadersLenmeldyIndication:Metachromatic leukodystrophyMarketed in:European Union,France,Germany,Iceland,Liechtenstein,Norway,United Kingdom,Italy Forecasted revenue for 2029:$114 millionMarketed drugTable 13a-Marketed drug for metachromatic leukodystrophyAtidarsagene autotemcel(Lenmeldy):the worlds most costly medicationOriginator:Fondazione Telethon;GlaxoSmithKline;Ospedale San RaffaeleDeveloper:Orchard Therapeutics;The San Raffaele Telethon Institute for Gene Therapy(JV)Class:Gene therapiesMoA:Arylsulfatase replacements;Cell replacementsRegulatory milestones for Atidarsagene autotemcel(Lenmeldy)Lenmeldy is the first and only disease-modifying treatment(gene therapy)demonstrated to increase life expectancy in children with pre-symptomatic late infantile MLD and reduce the cognitive and/or physical effects of the early-onset disease.Lenmeldy,also marketed as Libmeldy in some regions,has become the most expensive drug available.Orchard Therapeutics(UK),now acquired by Kyowa Kirin(Japan),has set the US wholesale acquisition cost(WAC)of Lenmeldy at an unprecedented$4.25 million for a single treatment.This makes it the highest-priced FDA-approved treatment to date.Orchard Therapeutics introduced Lenmeldy in the US on March 20,2024,as the first FDA-approved therapy for children with MLD.Lenmeldy is forecasted to reach$114m in 2029.The average therapy cost for Lenmeldy in Europe is in Germany at$2.4m,and the highest is in the UK at$3.1m.40MarketedRegisteredRegulatory submission Marketed in the European Union,France,Germany,Iceland,Liechtenstein,Norway,United Kingdom in children and infants for early-onset MLDFeb 2023Marketed for the treatment of MLD in Italy in children and infants Apr 2022Orphan drug statusReceived Orphan drug status in the European Union forMetachromatic leukodystrophy(MLD)Apr 2007Mar 2024Approved in USA in children based on rolling BLA submission on Jun 2023Dec 2023Approved in SwitzerlandDrugCompanyDrug ClassMechanism of actionPhaseMarketed drugsAtidarsagene autotemcel(Lenmeldy;Libmeldy)Fondazione Telethon(Originator),GlaxoSmithKline(Originator),Ospedale San Raffaele(Originator),Kyowa Kirin(Owner)Gene therapiesArylsulfatase replacements,Cell replacementsMarketedRare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Drugs in DevelopmentClinical:1 drugPreclinical:5 drugsResearch:2 drugsDiscontinued:3 drugsSuspended drug:1 drugNo development reported:4 drugsDrugs in development for the treatment of Metachromatic leukodystrophyAs of August 2024,one drug is in early clinical development for treating Metachromatic leukodystrophy,while seven drugs are in the preclinical and research stages.The drugs being developed are mainly antisense oligonucleotides,gene therapies and recombinant proteins.41DrugCompanyDrug ClassMechanism of actionPhaseDrugs in developmentCP 101Contera Pharma(Originator,Owner)Antisense oligonucleotidesRNA interferencePreclinicalCerebroside sulfataseZymenex A/S(Originator),Takeda(Owner)Recombinant proteinsCerebroside sulfatase replacementsPhase IICP 105Contera Pharma(Originator,Owner)Antisense oligonucleotidesRNA interferencePreclinicalNWP 101NEUWAY Pharma(Originator,Owner)Gene therapiesArylsulfatase replacements,Gene transferencePreclinicalCP 102Contera Pharma(Originator,Owner)Antisense oligonucleotidesRNA interferencePreclinicalResearch programme:CNS disorder therapiesNEUWAY Pharma(Originator,Owner)Gene therapiesGene transferenceResearchAnc 80L65-arylsulfatase AAFFINIA THERAPEUTICS(Originator,Owner)Gene therapiesArylsulfatase replacements,Gene transferencePreclinicalETV ARSADenali Therapeutics Inc(Originator,Owner)ArylsulfatasesArylsulfatase replacementsResearchNo development reportedArylsulfatase A gene therapyReGenX Biosciences(Originator),REGENXBIO(Owner)Gene therapiesGene transferenceNo development reported(I/II)Research programme:rare genetic diseases gene therapyFondazione Telethon(Originator,Owner),GlaxoSmithKline(Originator,Owner),Ospedale San Raffaele(Originator,Owner)Gene therapiesGene transf
2025-10-29
69页
5星级
OCTOBER202 5Understanding Medicine and Healthcare Spending in ContextDrug Expenditure Dynamics 20002022The level of drug expenditure is a closely watched,often commented upon,metric that has faced increased scrutiny by policymakers and other stakeholders in recent times.Issues such as global trade balances,medicine pricing,and international investment decisions are top priorities for countries and pharmaceutical companies alike,leading to a renewed interest in the level of spending on drugs globally.Despite this,the composition of that expenditure and its dynamics are not well understood.Typically,official statistics of drug spending only include drugs dispensed in pharmacies and do not include drugs used in hospitals,an issue which raises questions about their representativeness of total drug spending.In October 2021,the IQVIA Institute published a report titled Drug Expenditure Dynamics 19952020 with estimates of total drug spending,including hospitals and net of discounts and rebates paid by pharmaceutical companies.i Almost four years on from the original publication,an update of the core analyses has been conducted to provide an improved picture beyond publicly reported data.The latest findings build upon previous analyses,enhance and revise the methodologies,and further illustrate the complexities of comparing systems.The report focuses on a subset of specific countries to enable greater granularity and have included a robust appendix of analyses for each country.The research for this report was undertaken independently by the IQVIA Institute with the support of the Association of the British Pharmaceutical Industry(ABPI).The contributions to this report of Tanya Bhardwaj,Urvashi Porwal,Vibhu Tewary and dozens of others at IQVIA are gratefully acknowledged.Find Out MoreIf you wish to receive future reports from the IQVIA Institute for Human Data Science or join our mailing list,visit iqviainstitute.org.MURRAY AITKENExecutive Director IQVIA Institute for Human Data ScienceIntroduction2025 IQVIA and its affiliates.All reproduction rights,quotations,broadcasting,publications reserved.No part of this publication may be reproduced or transmitted in any form or by any means,electronic or mechanical,including photocopy,recording,or any information storage and retrieval system,without express written consent of IQVIA and the IQVIA Institute.Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in ContextREFERENCING THIS REPORTPlease use this format when referencing content from this report:Source:IQVIA Institute for Human Data Science.Report:Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in Context.October 2025.Available from www.iqviainstitute.orgTable of ContentsOverview 2Understanding components of drug expenditure 3 Total drug expenditure is the most meaningful metric 3 Public sources have incomplete data on total drug expenditure 4Drug expenditure dynamics 6 Total drug spending remains an important but small part of total healthcare expenditure 6 Drug spending as a share of healthcare continues to converge around 15%8 Health spending often fluctuates but has risen more than drug spending 8Methodologies 10References 12About the authors 13About the Institute 15OverviewMaking cross-country comparisons of healthcare and drug expenditure has become central to many policy discussions over many years and importantly requires adjustments of publicly available official statistics due to inconsistency and incompleteness in key dimensions.The World Health Organization System of Health Accounts(SHA)provides a robust measurement of health spending,while the Organisation for Economic Co-operation and Development(OECD)provides robust measurement of net drug expenditures through pharmacies.Drug spending through hospitals is generally not included and complex to estimate.This analysis provides the most complete and compatible methods to show total drug spend estimates to date,using official statistics where possible,and augmenting to fill known gaps,and provide comparable statistics.The key areas where official statistics are inconsistent or incomplete are related to non-retail drug spending,which are not included in OECD reporting,and some countries are not members of that organization.As countries differ in which medicines are dispensed through retail and non-retail channels,retail-only analysis which forms the basis for official statistics,is misleading.In some countries the official reported net drug expenditure does not reflect all the discounts and rebates received by their governments,especially if those are post-hoc agreed industry re-payments,such as the Voluntary Scheme for Branded Medicines Pricing,Access and Growth(VPAG)in the UK and clawbacks in France.In other countries,parts of the full picture of drug spending,and/or discounts and rebates are reported in different,often separate official reports.Local language reporting is a common feature,requiring additional efforts to extract details from these reports.Overall,the analyses continue to show that drug expenditure has remained a stable proportion of healthcare expenditure and is continuing to converge at around 15%,with variation across the 12 global markets ranging between 9%and 20%.Countries with the highest drug share of health expenditure often have the lowest overall health spend,while those with the lowest drug share have demonstrated consistent commitments to market access controls and drug price negotiation.The 15%unweighted average across 12 countries is the same as the U.S.which has the highest absolute drug and healthcare expenditures in absolute and per capita terms.The lowest in this analysis is the UK,with 9%,a share of healthcare that has been stable for over 20 years.Excluding those high outliers,which include Japan and South Korea,and low outliers,which include the UK,Canada and Ireland,the remaining eight countries have an even narrower range of drug spending at 1317%.Notable variations in the approval,availability and use of novel medicines,along with pricing differences across countries,are understood to be among the most impactful drivers of these remaining differences in spending across countries.Overall,these analyses provide useful additional context for policy discussions,but do not provide the necessary basis to determine whether individual countries drug spending is optimal.There are significant variations in country health system structures,priorities,population health needs,and economic resources,all of which may inform or drive the observed drug spending differences.The confidential and opaque nature of net spending on specific drugs limits the degree of granularity or precision of this or any analysis.There is a clear need across stakeholders to have robust and consistent statistics as included in this report,which would have even higher value if they were official statistics and not based on a mosaic of methodological assumptions.2|Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in Contextiqviainstitute.org|3Understanding components of drug expenditure TOTAL DRUG EXPENDITURE IS THE MOST MEANINGFUL METRIC Country health systems are heterogeneous and differ in their approach to the provision,financing,and consumption of pharmaceuticals.For instance,while the non-retail segment has been a growing portion of the pharmaceutical market in many countries,this is not the case in all countries.The proportion of medicines dispensed in hospitals varies by country and importantly,by the therapy area(Exhibit 1).Therefore,the assessment of only retail or non-retail expenditure can either include or exclude major components of spending depending on the country.Furthermore,medicines are often financed differently depending on the structure of the national healthcare system.For example,private funding of medicines (via voluntary insurance schemes)represents a significant portion of the U.S.market,whereas government schemes make up the majority of expenditure on medicines in the UK due to their single-payer system,the National Health Service(NHS).Therefore,assessing specific segments in isolation (e.g.,government funded expenditure only)does not provide a complete or accurate comparison.To ensure comparability across a diverse range of global markets,this study evaluates“total drug expenditure.”This is inclusive of all medicines(prescription bound,over the counter,vaccines),all channels(retail,hospital),and all financing types(public,private,out of pocket),measured at public prices(inclusive of supply chain markups and value-added tax)and reported after discounts and rebates received by payers(Exhibit 2).It has been notable that during the COVID-19 pandemic,countries have funded vaccines and therapeutics,as well as other mitigation approaches,through central government spending rather than directly from health spending.Data on COVID-19 treatments and vaccines,where known and available,are included to enable accurate comparisons.Exhibit 1:Hospital share of select therapy areas in 12 global countries Source:MIDAS sales data at list price(extracted August 2025).Notes:12 countries included in analysis(U.S.,Germany,France,Italy,Spain,UK,Canada,Japan,Korea,Australia,Belgium,Ireland).Hospital share of drugexpenditure(%)AverageMinimum1009080706050403020100OncologyAll othersVaccinesInfectious diseaseImmunology/AllergyHematologiesEye/EarPainVitamin/MineralsNeurologyEndocrinologyRespiratoryGastrointestinalCardiovascularDermatologicsGenitourinary/Womens HealthMaximum4|Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in ContextPUBLIC SOURCES HAVE INCOMPLETE DATA ON TOTAL DRUG EXPENDITURE OECD is the best and most recognized source of consistent information on drug expenditure,tracking spending for many developed countries.Despite consistent efforts by OECD to improve reporting,there are still no official,comparable statistics measuring total drug spending across countries.Instead,OECD provides a comparable measure of retail drug spending measured at net spending level.2 This measures the net amount paid by a countrys health system,including that paid by governments,insurers,and patients through retail pharmacies,and deducts any discounts and rebates they receive known by governments,who then submit the results to OECD.OECD has attempted to address the lack of non-retail expenditure data via a newer method of reporting (“total pharmaceutical sales”)3,but has faced significant issues with countries inconsistent and incompatible data submissions as noted in their methodology appendices.For instance,there are at least three possible sources of under-reporting in different countries:1.Sales data may only cover those drugs that are reimbursed by public insurance schemes;2.They may be based on ex-factory prices rather than public prices;and 3.Sales data may exclude drug consumption in hospitals.Exhibit 2:Definition of total drug expenditure in this report Source:IQVIA Institute for Human Data Science,Sep 2025.Ex-manufacturer(excludes margins/mark-ups)Trade(includes wholesale margins/mark-ups)Retail(includes wholesale and pharmacy margins/mark-ups)Price levelGross of rebates/discounts/clawbacks Expenditure levelNet of rebates/discounts/clawbacks RetailChannelHospitalRx boundMedicine typeOTCVaccinesGovernment/compulsory schemesFinancingVoluntary schemes/household out-of-pocket paymentsiqviainstitute.org|5It is important to understand that methodological improvements in the reporting of drug expenditure data can be incorporated in each data release.For example,data extracted on France retail drug expenditure from the OECD in July 2025 is 21%higher in the year 2019 compared to data extracted in June 2021.Furthermore,it is understood that clawbacks are not reflected in the OECD figures for retail spend in France and must be separately deducted to estimate net drug spend(see Methodology).To understand total drug spending,analyses were undertaken to determine what information was provided by countries to OECD,which components of spending were included,and where data reporting had improved,in order to fill any gaps with third party data or in some instances,utilize alternative established methodologies.Only three countries in scope provide reliable information to the OECD,and the remainder require augmentation or adjustment to get to an accurate figure of total drug spending(Exhibit 3).Exhibit 3:Segmentation of countries based on their availability of net expenditure data Source:MIDAS sales data at list price(extracted August 2025).Notes:Methods for estimating total drug spending on a net basis are detailed in the methodology appendix.Reliable public dataHigh quality OECD data,that has been sense-checked by third-party data and information from publicly available sources or national associationsBelgium,South Korea,Spain(post2018)TIER1Established methodologiesData that is able to be shared via non-OECD public sources(e.g.AIFA reports in Italy,or ABPI methodology in UK),or through national associations with high visibility to sourcesItaly,United KingdomTIER2Augmented data/methodologiesPartial OECD data that is able to be augmented by 3rd party data,and/or information from publicly available sources or national associationsAustralia,Canada,France,Germany,Ireland,Japan,Spain(pre2018),U.S.TIER3Despite consistent efforts by OECD to improve reporting,there are still no official,comparable statistics measuring total drug spending across countries.OECD has attempted to address the lack of non-retail expenditure data via a newer method of reporting,but has faced significant issues with countries inconsistent and incompatible data submissions as noted in their methodology appendices.6|Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in ContextDrug expenditure dynamics TOTAL DRUG SPENDING REMAINS AN IMPORTANT,BUT SMALL PART OF TOTAL HEALTHCARE EXPENDITURE Total drug spending averages 15%of healthcare expenditure in 2022,the most recent year consistently available,for the 12 major global countries studied,ranging between 9%and 20%(Exhibit 4).Comparing these figures to the previous global study by the IQVIA Institute in 2021,there has been no change to the average drug expenditure and only minor variations at the country level.The UK,Canada and Ireland still have the lowest net drug spending as a percentage of healthcare,at 9%,11%and 11%respectively.The U.S.has the highest per capita health spending of any country at$13,192 per capita,more than that of the other countries studied(Exhibit 5).Both the drug and health spend data were adjusted for population,Purchasing Power Parity(PPP)and GDP growth to represent in 2022 values.This is driven mostly by higher payments to hospitals and physicians,and administrative costs in the U.S.Other countries range from$4,952 to$9,250 per capita healthcare spending as compared to$656 to$1,337 per capita on drug spending.As a rapidly emerging economy during the early 2000s,South Koreas per capita health spending was considerably below other countries.However,in recent years it has risen dramatically and is now similar to Spain and Italy.The UK has the lowest drug share at 9%and the lowest per capita drug spending at$656,similar to Canada at 11%drug share and$765 per capita drug spending,remaining stable in both countries since 2000.Since then,the governments of the UK and Canada have each introduced a succession of price regulation,generic substitution policies,and VPAG in the UK as part of efforts to keep drug share of healthcare spending stable over time,in addition to healthcare technology assessments which determine if the medicine is cost-effective and should therefore be reimbursed by the public health system.Furthermore,the UK has one of the highest generic substitution and biosimilar uptake rates in Europe.1 These,among other factors,contribute to its low overall medicines spending versus other major markets.Exhibit 4:Total net drug spending as percentage of healthcare,2022 Drug spend as percentage of healthcare20%8%6%4%2%0%AverageU.S.GermanyFranceCanadaAustraliaUKJapanItalySpainS.KoreaBelgiumIreland20%9%Source:IQVIA Institute for Human Data Science,Sep 2025.iqviainstitute.org|7Higher drug spending shares are normally associated with countries where healthcare spending is lower overall,such as Japan and South Korea(Exhibit 6).This is driven by the fact that other healthcare related costs are comparatively lower in Japan and South Korea than many other countries.Pharmaceutical costs therefore appear to represent a higher proportion of the total,rather than being higher by any other metric(e.g.,on a per capita basis,or in absolute terms).Exhibit 5:Per capita health spending in real PPP 2022$,2022 Source:IQVIA Institute for Human Data Science,Sept 2025.13,1929,2508,5997,8827,4297,3727,2807,0675,7655,3585,1624,95211,1667,9137,6516,7916,2526,3886,5156,4114,6324,4714,2624,0242,0061,3379481,0911,1779847656561,133887900928US$Non-drug expenditureDrug expenditure14,00012,00010,0008,0006,0004,0002,0000U.S.GermanyFranceCanadaAustraliaUKJapanItalySpainS.KoreaBelgiumIrelandExhibit 6:Total net drug spending as percentage of healthcare and per capita health spending in real PPP 2022$,2022 Source:IQVIA Institute for Human Data Science,Sept 2025.Drug spending as%of healthcare(2022)Healthcare spending per capita($,2022)2520151054,0005,0009,00010,0008,00011,00012,00013,00014,0007,0006,000Higher%drug spending due tolower absolute HC spendingHigh drug and HCspending per capitaBubble diameter=Drug spending per capita($,2022)Drug spending correlateswith HC spendingU.S.GermanyFranceJapanBelgiumIrelandS.KoreaAustraliaSpainItalyCanadaUK8|Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in ContextDRUG SPENDING AS A SHARE OF HEALTHCARE CONTINUES TO CONVERGE AROUND 15 Drug spending as a percentage of healthcare has remained stable over the last 20 years,averaging between 1517%of healthcare across 12 countries(Exhibit 7).Since 2000,countries have been converging toward 15%,where historically there was greater variation.In 2022,there is less variability with countries ranging between 920%,compared to 928%in 2000.South Korea was a rapidly emerging economy in the late 1990s and early 2000s,and increased healthcare and drug spending has paralleled the dramatic economic growth in the country.However,in the last 7 years,drug spending has fallen in line with other developed countries and sits just below Japan at 19%.HEALTH SPENDING OFTEN FLUCTUATES BUT HAS RISEN MORE THAN DRUG SPENDING Across the 12 countries studied,total healthcare spending has risen more than drug spending since 2000(Exhibit 8).Medicines expenditure by contrast has been more stable and are inclusive of significant volumes of generic and biosimilar drugs at very low costs.These dynamics of loss of exclusivity and the entry of low cost alternatives are unique to drug expenditure,and are not present in other healthcare sectors.The impact of the COVID-19 pandemic is visible in multiple countries,with an increase in healthcare spending between 2020 and 2022.The System of Health Accounts(SHA)introduced dedicated categories to capture the pandemics impact on health systems and spending trends,including costs for testing,treatment,public health measures,and vaccination programs.4 Where SHA-derived data on drug spending was not the basis for the analysis(i.e.,with third-party data or alternate public sources),data on COVID-19 treatments and vaccines were included to enable comparisons.Furthermore,low growth in drug expenditure is in part driven by increased cost containment efforts over the past decade in many major markets,which are often not able to be applied to other components of healthcare spending.When examined in combination with factors such as which medicines are approved and reimbursed in different countries,along with differing rates of use,drug spending is a useful metric to help explain the differences across countries.In most countries,drug spending has been growing more slowly than health spending in recent periods(Exhibit 9).Exhibit 7:Drug spending percentage of healthcare spending in real PPP 2022$,20002022 Source:IQVIA Institute for Human Data Science,Jul 2025.Drug spending percentage ofhealthcare spendingJapan,20%Italy,17%Spain,17%Korea,19lgium,14%France,17%Germany,16%U.S.,15%UK,9nada,11%Australia,12%Iraland,11%Average of shares,1550% %5%0 002001200220032004200520062007200820092010201120122013201420152016201720182019202020212022iqviainstitute.org|9Exhibit 8:Per capita drug and health spending in real PPP 2022$,20002022 Exhibit 9:Health and drug real 2022 per capita PPP$spending CAGRs Source:IQVIA Institute for Human Data Science,Jul 2025.Source:IQVIA Institute for Human Data Science,Jul 2025.US$20002020200020202000202020002020200020202000202016,00014,00012,00010,0008,0006,0004,0002,0000U.S.JapanGermanyFranceItalySpainUS$20002020200020202000202020002020200020202000202016,00014,00012,00010,0008,0006,0004,0002,0000UKBelgiumCanadaSouth KoreaAustraliaIrelandHealthcare spendingDrug spendingUS$20012005201620202021202220112015200620102001200520162020202120222011201520062010200120052016202020212022201120152006201020012005201620202021202220112015200620102001200520162020202120222011201520062010200120052016202020212022201120152006201020012005201620202021202220112015200620102001200520162020202120222011201520062010200120052016202020212022201120152006201020012005201620202021202220112015200620102001200520162020202120222011201520062010200120052016202020212022201120152006201023%8%3%-2%-7%US$23%8%3%-2%-7%U.S.JapanGermanyFranceItalySpainUKBelgiumCanadaSouth KoreaAustraliaIrelandHealthcare spendingDrug spending10|Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in ContextIn this report,total drug spending has been collated across the 12 countries and represents amounts that are net of discounts and rebates.This has been accomplished through a variety of methods depending on the availability of public information.In some cases,the information to be collated is official but only published locally and must be identified and translated from local languages.In some cases,the relevant data was submitted to OECDs new total pharmaceutical sales process.In other cases,the information is not provided by any source and requires the application of assumptions or inferences (Table 1).While the findings demonstrate a more consistent and similar view across countries,the diversity of methods and the lack of official attribution leaves room for improvement.The details of the total drug spending methodologies are summarized below.Healthcare spending was collated directly from WHO Global Healthcare Expenditure Database.5 Both the drug and healthcare spend data were adjusted for population,Purchasing Power Parity(PPP)and GDP growth to represent in 2022 values.Data for 2022 was the most recent year consistently available for both drug and healthcare expenditure data across the 12 countries.MethodologiesTable 1:Methods of estimating total net drug spending in 12 global markets CountrySource of total marketSource of retailSource of non-retailPeriods of real dataBack-projection methodU.S.IQVIA calculations based on CMS NHE,IQVIA MIDAS list-price data and reporting by publicly traded drug companiesCMS NHE prescription drugsTotal minus retail20102024Total market for older period prior to 2010 was back projected by using average of non-retail share for the available periodCanadaIQVIA modified by provincial report assumptionsTotal minus non-retailIQVIA non-retail shareOffice of the Auditor General of Ontario reports to estimate%net below list in 2016/17 and 2018/19 fiscal years applied to nationalTrended gross to net ratio applied for historic periodsAustraliaAustralia Govt reports and IQVIA calculations Total minus non-retailIQVIA hospital share20102021Total market back projected using retail growth rates(retail OECD)for period prior to 2010JapanIQVIA NHI price data&archives as equivalent to MHLW official totalsTotal minus non-retailIQVIA non-retail share19952024Not applicableSouth KoreaOECD and IQVIAOECD(Total pharmaceutical sales)IQVIA non-retail share20082022Total market back projected based on retail growth rates(retail OECD)for older periodsiqviainstitute.org|11Table 1:Methods of estimating total net drug spending in 12 global markets continuedCountrySource of total marketSource of retailSource of non-retailPeriods of real dataBack-projection methodGermanyOECD and IQVIAOECD(Pharmaceutical expenditure,HC51)OECD*IQVIA non-retail share19952022Not applicableFranceOECD,IQVIA and CEPS reportsOECD(Pharmaceutical expenditure,HC51),adjusted for CEPS reported clawbacksOECD*IQVIA non-retail share,adjusted for CEPS reported clawbacks19952022(CEPS reported clawbacks 20122022 only)Not applicableItalyAIFA reportsconventional share of net calculated using AIFPA reportTotal minus retail20152024Additional AIFA and academic reports for estimates of hospital gross and net for earlier periodsSpainOECDOECD(Pharmaceutical expenditure,HC51)OECD(Total pharmaceutical sales)minus retail20182022Average share of 2018 and 2019 was used to back project the non-retailUKABPI/MOH/IQVIA method,plus OTC,hospital solutions(ATC=K),diagnostics(ATC=T),OOP costs and dispensing fees otherwise excluded by industry estimatesApproach does not split by retail and non-retailIndustry&Ministry of Health method for measuring drug spending net of various discount/rebate/chargeback programs.Only for 20152024OHE papers for 20072011 and industry estimates for 2012,2013.Back projection of average 20072011 gross to net ratio for earlier periodsBelgiumOECDOECD(Pharmaceutical expenditure,HC51)OECD(Total pharmaceutical sales)minus retail20032022Not applicableIrelandOECD and IQVIAOECD(Pharmaceutical expenditure,HC51)OECD*IQVIA non-retail share20002022Not applicableSource:IQVIA Institute for Human Data Science,Sep 2025.12|Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in ContextReferences 1.IQVIA Institute for Human Data Science.Drug Expenditure Dynamics 19952020:Understanding Medicine Spending in Context.Available from:https:/ 2.Organization for Economic Cooperation and Development(OECD).OECD Pharmaceuticals and other medical non-durable goods(HC51).Accessed Jul 2025.https:/data-explorer.oecd.org/3.Organization for Economic Cooperation and Development(OECD).OECD Total pharmaceutical sales(HEALTH_PHMCDF_PHMC_SALES).Accessed Jul 2025.https:/data-explorer.oecd.org/4.World Health Organization.Tracking health expenditure on COVID-19 within the system of health accounts framework.June 2022 https:/www.who.int/publications/i/item/9789240057708 5.World Health Organization.Global Healthcare Expenditure Database.Accessed Jul 2025.https:/apps.who.int/nha/database/Select/Indicators/en iqviainstitute.org|13MURRAY AITKENExecutive Director,IQVIA Institute for Human Data Science As head of the IQVIA Institute for Human Data Science,Murray Aitken provides policy setters and decision-makers in the global health sector with evidence,analysis,and insights that contribute to the advancement of Human Data Science to improve human health outcomes.He is tasked with creating and managing a research agenda that leaders in global governments,payers,providers,academia,and the life sciences industry use to accelerate the understanding of global trends in disease patterns,data science,and technology.This research is used to foster innovation critical to evidence-based decision-making and the advancement of human health.Murray has held various roles throughout his nearly 25-year tenure at IQVIA within healthcare insights,corporate strategy,consulting,and services.Prior to IQVIA,Aitken was a partner at McKinsey&Company in the U.S.and in South Korea,covering a broad range of industries,including life sciences and consumer goods.He holds an MBA,with distinction,from Harvard University and a Master of Commerce from the University of Auckland in New Zealand.In addition to his duties at the IQVIA Institute,Murray is Visiting Professor in Practice,The London School of Economics and Political Science.MICHAEL KLEINROCK Research Director,IQVIA Institute for Human Data Science Michael Kleinrock serves as Research Director for the IQVIA Institute for Human Data Science,setting the research agenda for the Institute,leading the development of reports and projects focused on the current and future role of human data science in healthcare in the United States and globally.Michael leads the research development included in Institute reports published throughout the year.The research is focused on advancing the understanding of healthcare and the complex systems and markets around the world that deliver it.Throughout his tenure at IMS Health,which began in 1999,he has held roles in customer service,marketing,product management,and in 2006 joined the Market Insights team,which is now the IQVIA Institute for Human Data Science.He holds a B.A.degree in History and Political Science from the University of Essex,Colchester,UK,and an M.A.in Journalism and Radio Production from Goldsmiths College,University of London,UK.About the authors14|Drug Expenditure Dynamics 20002022:Understanding Medicine and Healthcare Spending in ContextAbout the authors MAX NEWTONPrincipal,Strategic Partners(GS&AR),IQVIA Max Newton is a Principal with over nine years of experience in pharmaceutical consulting,leading diverse projects across policy,government affairs,and commercial strategy.Max manages a team responsible for strategic engagements with global associations,and industry groups and holds a BSc in Medical Microbiology&Virology for Warwick University,and an MSc in Drug Discovery&Pharmaceutical Management from University College London.KELSEY STODDARTSenior Consultant,Global Supplier&Association Relations,IQVIA Kelsey Stoddart is a Senior Consultant within IQVIA Global Supplier&Association Relations team.She has over five years of life sciences consulting experience across policy,government affairs,and commercial strategy.Kelsey holds a BSc in Pharmacology from Newcastle University,and an MSc in Pharmacology from University of Oxford.About the InstituteThe IQVIA Institute for Human Data Science contributes to the advancement of human health globally through timely research,insightful analysis and scientific expertise applied to granular non-identified patient-level data.Fulfilling an essential need within healthcare,the Institute delivers objective,relevant insights and research that accelerate understanding and innovation critical to sound decision making and improved human outcomes.With access to IQVIAs institutional knowledge,advanced analytics,technology and unparalleled data the Institute works in tandem with a broad set of healthcare stakeholders to drive a research agenda focused on Human Data Science including government agencies,academic institutions,the life sciences industry,and payers.Research agendaThe research agenda for the Institute centers on five areas considered vital to contributing to the advancement of human health globally:Improving decision-making across health systems through the effective use of advanced analytics and methodologies applied to timely,relevant data.Addressing opportunities to improve clinical development productivity focused on innovative treatments that advance healthcare globally.Optimizing the performance of health systems by focusing on patient centricity,precision medicine and better understanding disease causes,treatment consequences and measures to improve quality and cost of healthcare delivered to patients.Understanding the future role for biopharmaceuticals in human health,market dynamics,and implications for manufacturers,public and private payers,providers,patients,pharmacists and distributors.Researching the role of technology in health system products,processes and delivery systems and the business and policy systems that drive innovation.Guiding principlesThe Institute operates from a set of guiding principles:Healthcare solutions of the future require fact based scientific evidence,expert analysis of information,technology,ingenuity and a focus on individuals.Rigorous analysis must be applied to vast amounts of timely,high quality and relevant data to provide value and move healthcare forward.Collaboration across all stakeholders in the public and private sectors is critical to advancing healthcare solutions.Insights gained from information and analysis should be made widely available to healthcare stakeholders.Protecting individual privacy is essential,so research will be based on the use of non-identified patient information and provider information will be aggregated.Information will be used responsibly to advance research,inform discourse,achieve better healthcare and improve the health of all people.iqviainstitute.org|15CONTACT US100 IMS Drive Parsippany,NJ 07054 United Statesinfoiqviainstitute.org iqviainstitute.orgThe IQVIA Institute for Human Data Science is committed to using human data science to provide timely,fact-based perspectives on the dynamics of health systems and human health around the world.The cover artwork is a visual representation of this mission.Using algorithms and data from the report itself,the final image presents a new perspective on the complexity,beauty and mathematics of human data science and the insights within the pages.This algorithmic art is based on the 12 analyzed countries data for healthcare spending and drug spending.Data are on nominal and PPP adjusted basis and have been collated for the years 20152022.Copyright 2025 IQVIA.All rights reserved.10.2025.ENT
2025-10-29
18页
5星级
White PaperTrustworthy AI/ML for Patient Analytics and ResearchAI-secure,privacy-first,with continuous monitoring and oversightTable of contentsResponsible innovation in patient analytics and research 2Heightened care in AI/ML 2Adopting a principled,AI-secure approach to AI/ML 2Shifting baseline for AI-Secure AI/ML 3Bridging AI and data protection with federated modeling 3Collection limitation and data minimization 3Use limitation and purpose specification 4Security safeguards 4Accountability and oversight 4Openness and transparency 4Federated learning for AI/ML 5Understanding the data journey for federated learning 6Source ingestion:pseudonymization and segregation 6Horizontal federated learning:generating synthetic trends 6Vertical federated learning:AI-secure AI/ML 7Safe outputs 7Beyond de-identification:managing reconstruction risk 8Leveraging synthetic trends for AI/ML 8Managing reconstruction risk 9AI governance and privacy operations(AI PrivOps):an integrated governance function 10Continuous monitoring of AI PrivOPs metrics 10Oversight without exposure 11Human-in-the-loop for accountability 11Ethics Board for patient analytics and research 12Conclusion 13Acknowledgment 13 |1This paper outlines our approach to Artificial Intelligence(AI)and Machine Learning(ML)that withstands todays threat landscape and serves as a blueprint for sustainable innovation.Its how we raise the bar for defensible AI in healthcare applications and beyond,representing a shift from traditional data practices to AI-security as a design feature.2|Trustworthy AI/ML for Patient Analytics and ResearchResponsible innovation in patient analytics and researchLife sciences are being transformed by Artificial Intelligence(AI)and Machine Learning(ML).But with that transformation comes a critical question:how do we unlock value from sensitive health data without undermining trust,transparency,or control?Traditional safeguards are no longer enough in an era of AI/ML,where subtle patterns can be used or misused in unanticipated ways.The stakes are especially high in healthcare,where data utility must be balanced with rigorous protection.Robust de-identification methods,which remove identifying elements,can be used but the industry lacks widespread adoption of standardized practices.This absence of fixed standards provides space to explore forward-looking approaches,especially in light of emerging AI/ML threats that will need to be addressed.As AI/ML and other developing technologies reshape the landscape,more sophisticated strategies are needed to balance AI/ML and data protection with responsible use.Heightened care in AI/MLThis whitepaper introduces a novel privacy-first and AI-secure architecture for defensible AI developed by IQVIA.In response to AI and data protection concerns,the platform combines synthetic data abstractions,federated learning,and integrated AI Governance and Privacy Operations(AI PrivOps)monitoring to enable safe,effective AI/ML without compromising confidentiality.The solution enforces AI and data protection through architectural features such as input transformation,non-reversibility,and latent space modeling.Aligned with global standards such as ISO/IEC 42001 AI Management System and frameworks by the U.S.National Institute of Standards and Technology(NIST),this system ensures continuous oversight,minimizes AI/ML risks,and promotes defensible AI.This approach meets evolving regulatory and organization expectations,and it sets a new benchmark for ethical healthcare AI innovation.Adopting a principled,AI-secure approach to AI/ML Envision a future where AI/ML models for health and wellness applications are proactively engineered with resilience and security at every layer.Sensitive data remains protected,systemic vulnerabilities and risks are managed before they surface,and insights are extracted and utilized without exposure.This is the new frontier of AI and data protection,where the architecture is purpose built for robustness,trust,and availability without compromising analytical power.This white paper introduces a novel,principled approach that puts AI security at the center of the system architecture.Powered by the IQVIA Synthetic Trends Engine,our approach is grounded on three foundational pillars:synthetic data abstraction,federated learning architecture,and integrated AI governance and privacy operations.Synthetic data abstraction:Traditional models rely on raw data,increasing the surface area for risk.Instead of relying on raw data,our approach transforms high-dimensional signals into non-reversible trend vectors using AI-secure dimensionality reduction techniques.Synthetic trends capture useful patterns to maintain analytical utility while minimizing downstream reconstruction risk by design,approaching near-zero exposure.This enables inferential bridging for analytics across isolated datasets.Federated learning architecture:Rather than aggregating data into a central repository,our system employs a federated architecture in which source data are segregated within secure environments.Raw data never leaves its origin,and only synthetic trends,which are themselves AI-secure,are combined for modeling.Decentralized computation ensures that data sovereignty is respected,significantly reducing the risk of exposure and unauthorized access,while still allowing for collaborative |3AI governance and privacy Operations:Every step of the data flow is governed by strict policies and technically enforced oversight mechanisms that are tracked and manage accordingly,including continuous monitoring and auditable logs for end-to-end traceability.Segregated environments,role-based access controls,and robust audit trails ensure that data is used only for its intended purpose,in alignment with enterprise-level governance and risk strategies.This approach is a response to todays threat landscape including risks such as AI model inversion,data reconstruction,linkage attacks,and the misuse of data across distributed systems and serves as a blueprint for sustainable innovation.Its how we raise the bar for what defensible AI looks like in healthcare applications and beyond,representing a shift from traditional data practices to a new paradigm where AI-security is a design feature.Shifting baseline for AI-Secure AI/ML AI has transformed the landscape of health and wellness industries,enabling innovative solutions that enhance patient outcomes,streamline clinical research,and improve patient engagement in health-focused interventions.As the appetite for data-driven personalization and combined intelligence continues to grow for health and wellness use cases,the rise of sophisticated analytics,cross-platform identifiers,and probabilistic modeling has raised raise urgent questions about AI and data protection.Across the globe,AI-driven applications are expected to navigate an increasingly complex regulatory environment.AI and data protection are converging priorities,with new and evolving laws,regulations,and policy guidance emphasizing risk-based AI governance,fairness,transparency,and accountability.Both global frameworks and national laws are shaping expectations for how health data is collected,analyzed,and used particularly where AI introduces novel risks such as data leakage,inference,or misuse.This regulatory evolution underscores the need for AI systems that are secure by design,aligned with organizational objectives,and capable of adapting to shifting oversight requirements.Patient analytics and research,especially the secondary use of health information,is under increasing scrutiny from data protection authorities due to the use of sensitive health-related data sensitive and because the outputs will inform patient care and outcomes.Concerns may include fairness,transparency,and the risk of harm when personal health insights are used irresponsibly or without adequate safeguards.IQVIAs approach is designed to address those concerns directly.By using synthetic trends,federated modeling,and continuous monitoring,we minimize data exposure while enabling high-quality patient insights.An ethics board can provide an additional layer of accountability,ensuring that we align with regulatory expectations and set a new standard for responsible and trustworthy use of AI in healthcare.Bridging AI and data protection with federated modelingIQVIAs federated modeling approach translates abstract principles of AI-security and privacy protection into concrete system behaviors.The platform operationalizes them through embedded architectural controls and data-handling strategies.The core engineering concepts of data protection in our approach input transformation,non-reversibility,and latent space modeling are aligned by design with AI-security and privacy protection,ensuring both technical performance and principled data use.Collection limitation and data minimizationThrough input transformation,IQVIA ensures that only essential attributes are retained.Features with high reconstruction risk or low modeling utility are excluded during preprocessing.Data is pseudonymized externally and abstracted early,reducing the need for collection of 4|Trustworthy AI/ML for Patient Analytics and Researchdetailed raw inputs.The use of synthetic trends derived from group-level statistical abstractions reflects this principle in practice:models are built using only what is necessary and nothing more.Use limitation and purpose specificationNon-reversibility reinforces the boundary between raw input and model use.The system is designed so that data collected for AI/ML can only be used for approved purposes.Outputs such as cohort scores or patient segments are labeled with metadata that restricts downstream use to a specific context and time frame.By making outputs unusable for anything but the intended application,non-reversibility enables robust enforcement of purpose limitation.Security safeguardsLatent space modeling adds a meaningful security layer by removing any semantic traceability to original data.The use of abstracted,non-human-readable embeddings to create synthetic trends prevents even authorized personnel from reconstructing sensitive traits or behaviors.Combined with traditional access controls,encrypted environments,and audit trails,this approach embodies both technical and organizational security safeguards.Accountability and oversightEach of the three architectural strategies is embedded within a broader governance model that supports continuous oversight.Input transformation pipelines are versioned and logged.Risk assessments tied to non-reversibility thresholds are stored and periodically audited.Latent space models are reviewed for drift and abuse potential.These controls establish traceability and institutional accountability.An ethics board can also have an oversight and monitoring role to ensure we remain aligned with regulatory expectations and continuously update ethical guardrails.Openness and transparencyIQVIA is proactively publishing documentation on its modeling pipeline,including how data is transformed,abstracted,and safeguarded.Clients and partners are given access to non-sensitive model lineage reports and can request high-level explanations of model purpose and boundaries.These efforts support informed trust without revealing protected IP or compromising privacy protections.Together,these mappings demonstrate that IQVIAs technical strategy is aligned with privacy norms and operationalizes them.This federated modeling approach is privacy-aware and AI-secure,by |5Federated learning for AI/ML In IQVIAs federated modeling approach,source data is decentralized,identifiers are masked,and only synthetic abstractions are used for modeling.To strike a delicate balance between centralized control and decentralized innovation,we use the architecture of a data fabric aligned to a broader data mesh strategy,which we call a secure health fabric,as shown in Figure 1.The secure health fabric configuration is designed around the creation of segregated workspaces that enable individual teams to function autonomously within a cohesive technological framework.This setup supports the development of customized AI applications tailored to specific needs while maintaining the security and governance standards of the overall architecture.Figure 1.Data fabric within a data mesh strategyData meshData fabricEach workspace produces its own data products,which are developed,tested,and validated independently of others,thereby enhancing security and specialization.The independent workspaces within the secure health fabric are governed by robust protocols that align to the highest data protection and AI security standards.Automation through AI agents enable real-time management and enforcement of these protocols,while human-in-the-loop checkpoints and operational monitoring systems ensure accountability and trust in how AI agents are used to manage AI-enabled workflows.More than a data management system,the secure health fabric serves as a foundational architecture for securely and efficiently deploying,managing,and scaling AI applications in healthcare.6|Trustworthy AI/ML for Patient Analytics and ResearchModel trainingModel productionMedical claims environment Prescription claims environment SynthesisMxtrendsRxtrendsMX databaseSegregated,secure cloudenvironmentsSynthesisRxdatabase120 datasources(deidentified)ModeloutputsSynthetic trendsApply AI/ML modelAl PrivOps monitoring auditable proofBest practice AI/ML separation(training vs.production)AI management system with impact assessments,monitoring,ethics reviewModel tuningAI/ML modelobjectSynthetic trends(sample)Understanding the data journey for federated learningFigure 2 illustrates the overall data journey through the system.There are four key stages within the federated learning process:source ingestion,horizontal federated learning,vertical federated learning,and safe outputs.Figure 2.High-level data flows for federated modeling with synthetic trendsSource ingestion:pseudonymization and segregationAt the entry points,each data stream is pseudonymized before ingestion.Pseudonymization replaces sensitive identifiers with unique,random pseudonyms that have no intrinsic meaning and are internal to the federated modeling process.To maximize separation of duties and enhance trust,this function can be handled by a neutral Third-Party Provider(TTP),ensuring that no internal team or downstream process ever has access to unique identifiers.Depending on the design,pseudonymization can support deterministic linkage(the same input always maps to the same output,enabling consistent matching across datasets)or probabilistic linkage(which allows matching with a configurable degree of fuzziness to accommodate natural data variability).Upstream sourcing requirements(contractual,privacy,or governance enforced)associated with each data stream are considered at this stage through additional de-identifying transformations,to align with regulatory and organizational expectations around data use and sharing.Following these processes,the individual data streams are ingested and maintained in segregated environments with strong data separation and access controls in place.Horizontal federated learning:generating synthetic trendsIn segregated environments,each data stream undergoes processing in isolation to convert raw features into synthetic trends,which are abstracted signals that capture group-level patterns rather than individual-level details.This is accomplished through horizontal federated learning whereby we align data by columns across different datasets.We use techniques such as autoencoding and matrix factorization methods to compute statistics,like means,from each dataset and then pool these to derive global |7These methods are configured to retain important signals but discard idiosyncratic traces that could re-construct original data.To further strengthen protections,we can apply differential privacy during this transformation process.Differential privacy introduces controlled,mathematically calibrated noise into data or summary statistics.Differential privacy ensures that no single individuals data significantly impacts the outcome,making it practically impossible to infer sensitive details or identify participants based on embeddings.Pseudonymized health features are transformed into behavioral trend vectors(representing important patterns and relationships between features).These vectors retain insights from health features without preserving individual records.In segregated environments,different sources of health information(e.g.,medical or prescription claims)are independently transformed into synthetic trend vectors that retain meaningful health insights(e.g.,synthetic medical trends or synthetic prescription trends).Vertical federated learning:AI-secure AI/ML Synthetic trends from segregated bridge environments are routed into the modeling environment;the upfront pseudonymization process enables vertical federated learning to align data by rows,matching records across datasets without ever combining them directly,instead combining trends from each dataset to create comprehensive individual profiles.The combined trends undergo a robust reconstruction risk assessment before being made available for modeling purposes.To further minimize risk,a sampling-first approach to model training is adopted.Only a subset of the combined synthetic trend data is used to train models initially.This sample is statistically representative but constrained enough to reduce exposure in the event of model overfitting or data leakage.Once models are trained and meet AI PrivOps constraints,they are deployed across the full combined synthetic trend dataset during inference.This separation between model training and inference is deliberate:the model training is highly restrictive,supporting only exploratory analysis and feature refinement under tight governance and automation.Inference processes are distinct,auditable,and stripped of access to feature generation logic,ensuring that post-training application of models cannot be reverse-engineered into insights about individual or group behavior.This two-stage model lifecycle(sampled training followed by broad inference)further reinforces the privacy perimeter,limiting who can see the trends data and how deeply the system“learns”from it.Safe outputsBefore the results of the modeling process are used for decision-making or shared externally,a rigorous output validation process is conducted.This involves ensuring that outputs comply with data protection and governance expectations by applying data aggregation,noise injection,and secure encryption protocols.Modeled outputs may take various forms,including risk stratification scores,predictive analytics,or cohort classifications.These outputs undergo a validation process to verify that they meet data protection standards,for example aggregation thresholds.Any external sharing is managed through secure,non-reversible pseudonymization methods,ensuring that the receiving systems cannot trace back to individual data points.Metadata controls are applied to restrict downstream use,enforce expiration,and track data lineage.By separating raw data from model environments,abstracting signals into synthetic trends,and enforcing tight operational boundaries,the overall system transforms AI and data protection from a theoretical concept into a functional constraint.Each stage ensures that data use remains purpose-bound and technically non-reversible,aligning with IQVIAs commitment to responsible innovation in regulated machine learning contexts.8|Trustworthy AI/ML for Patient Analytics and ResearchBeyond de-identification:managing reconstruction riskFederated learning architectures are designed to minimize risk by decentralizing data.However,when using raw or even de-identified features,modern AI systems could draw connections and surface features that humans might miss.When applied to high-dimensional datasets,especially ones that combine various sources of health information,even relatively sparse information can yield sensitive inferences.This raises the possibility that models may inadvertently disclose sensitive information or infer sensitive health attributes,undermining privacy.Adversarial actors can exploit poorly abstracted model inputs or outputs through inference,reconstruction,or correlation attacks.So,while traditional de-identification techniques such as pseudonymization,generalization,or suppression reduce identifiability,our concern is mitigating the ability of systems to infer attributes under adversarial conditions.Leveraging synthetic trends for AI/ML In IQVIAs principled approach,synthetic trends serve as an AI-secure intermediary,abstracting meaningful group-level patterns from raw data through feature aggregation,dimensionality reduction,and controlled noise injection.This method enhances AI and data protection and optimizes analytical utility by maintaining critical signal integrity without exposing individual records,as shown in Table 1.Table 1:Synthetic trends dataset for AI/MLOur approach introduces safeguards rooted in both design and AI-security engineering to ensure that minimizing reconstruction risks and preventing misuse are continuous and enforceable throughout the entire data lifecycle.This is achieved through three core concepts:IDOUTCOMETREND 1TREND 2TREND 3TREND 4TREND 5100.1591.6290.1382.50.8921-1.712-0.153-5.8-0.15-0.15311.0900.61711.720.830.617401.771-1.2777.63-0.28-0.4550-1.308-0.817-4.61.14-0.31 |9Input transformationRaw signals are converted into standardized and privacy-abstracted representations before any modeling occurs.This includes operations like normalization,signal aggregation,and feature encoding.The outcome is the generation of synthetic trends insights that preserve patterns without traceability back to original data.This upfront abstraction ensures that no raw data interacts directly with model logic.Non-reversibilityTo prevent any reconstruction of source data,non-reversibility is enforced through dimensionality reduction,noise injection,and mutual information minimization.These techniques create a technical barrier that prevents models from inferring original signals even when auxiliary datasets are available.By mathematically disrupting traceable paths back to individual records,this principle guarantees statistical implausibility of re-construction.Latent space modelingModel training and inference are conducted within abstract,non-semantic feature spaces,decoupling learned behavior from recognizable inputs.This approach optimizes learning while introducing an additional layer of privacy,as models operate solely on latent representations that lack direct ties to raw data.Even under adversarial conditions,this abstraction mitigates risks of unintended inference or data leakage.This structured approach redefines AI and data protection as a proactive design principle,moving beyond traditional methods to embed AI-security directly within the modeling architecture.By prioritizing secure abstractions and non-reversible transformations,we ensure this system is resilient against modern threats while optimizing analytical utility without sacrificing data protection.Managing reconstruction riskBecause original values in the health data are transformed into an embedding space,a row-level record would need to be reconstructed before any meaningful data about an individual could be misused.We define this possibility,the chance of inferring original values from their transformed representations,as reconstruction risk,a precursor to data misuse.Our implementation embeds continuous measurement,quantification,and monitoring across the entire data lifecycle,ensuring that synthetic trends are robust against adversarial attempts and statistical attacks.Reconstruction risk quantifies the privacy and security exposure of the transformed embedding space.It accounts for the diminishing contribution of higher order embedding dimensions,as well as the effects of distortion and noise injection.While retaining more dimensions may preserve more detail,we deliberately limit this by applying dimensionality reduction.This introduces distortion that acts as a safeguard,making it significantly harder to reconstruct original values and reducing the likelihood of reversal.In practice,we use this method to reduce large and complex datasets into compact forms that improve computational efficiency while producing secure synthetic trends.In these cases,reconstruction risk is orders of magnitude below practical thresholds,supporting an elevated level of anonymization.This approach offers a practical way to assess AI and data protection through the lens of adversarial reconstruction difficulty.10|Trustworthy AI/ML for Patient Analytics and ResearchAI governance and privacy operations(AI PrivOps):an integrated governance functionAs federated models grow in complexity and scale,ongoing oversight is needed to ensure that controls operate as intended and remain aligned with policy,law,and public expectations.IQVIA addresses this need through an integrated operational framework for AI Governance and Privacy Operations(AI PrivOps).AI PrivOps serves as a cross-functional,continuous AI management layer that translates policy into enforcement,monitors live modeling activities,and provides a mechanism for escalation,remediation,and auditability.It enables privacy assurance as a living process woven throughout the model lifecycle.While data protection begins with architectural choices like federated learning and input transformation,ongoing monitoring and accountability will uphold trust and maintain alignment over time.AI PrivOps is the operational backbone that turns privacy-by-design commitments into defensible outcomes.AI PrivOps is a monitoring and assurance layer that overlays the federated modeling stack.It ensures continuous tracking of privacy risks,enables oversight without exposing sensitive inputs,and provides structured workflows for intervention,review,and improvement,as shown in Figure 3.It supports adaptive governance helping organizations respond to model drift,feature updates,and evolving regulatory expectations.Continuous monitoring of AI PrivOPs metricsAI PrivOps enables continuous monitoring by embedding metrics at key points across the federated learning workflows,from data ingestion to synthetic trends generation,model training,and deployment.Each stage is instrumented to capture specific classes of metrics that reflect AI and privacy risk,model behavior,and environmental integrity.Figure 3:AI governance and privacy operations(AI PrivOps)MxRxML trainingML productionPerform data quality checks on health dataMedical claims feature engineeringPerform quality checks onhealth data;convert tosynthetic Mx trendsPrescription feature engineeringPerform quality checks onRx data;convert tosynthetic Rx trendsModel trainingPerform sampling of features.model training on sampleModel validationPerform model validationModel inferenceLoad trained model and apply on Mx and Rx trendsCreate and storesynthetic Mx trendsPerform data quality checks on prescription dataCreate and storesynthetic Rx trendsCombine synthetic Mx and Rx trendsTemporarily store sample dataset in feature storeLog model using MLflow;store model metrics,parameters,artifactsApply the model on the combined trends(inference)to generate model outputsEvaluate model outputs based on guardrailsLoad the right model associated to projectPackage final deliverable for export in associated project volume Code lineage CI/CD monitoring Access controlsEnvironmentGov/Priv ops Data lineage Activity logs Segregated data Cohort definition Bias/fairness metrics Dimensionality reduction Flag on ethical guardrails Inconsistent data distributions Noise addition parameterization Reconstruction risk metrics Variable exclusions(e.g.,state)Accuracy,loss curve Code lineage Data lineage(synthetic trends)Model risk tiering Privacy budget threshold Guardrail evaluation Drift detection Model endpoint monitoring Motivated intruder testing Output checkingCreate training set as sampleTrain model onsampled training setEvaluate modelRandomly seed sampledataset for ML trainingttttfifififiTask triggerFeedback triggerStatus alerttfi |11At the source ingestion and bridging stages,key metrics include outcome definition fidelity,fairness and bias detection,dimensionality compression validation,reconstruction risk measurement,and flagging for variable exclusions(such as geographic or sensitive attribute filters).Noise injection parameters and checks for inconsistent or anomalous data distributions are also logged to detect preprocessing errors or skewed datasets that could compromise AI and data protection.During model training and inference,AI PrivOps tracks accuracy and loss curves,monitors drift and checks for abnormal fluctuations in model behavior through endpoint metrics.Variability(where applicable)is evaluated post-training,and motivated intruder testing may simulate adversarial scenarios.These techniques identify if outputs could leak sensitive patterns or invite misuse.Beyond the workflow layer,AI PrivOps also continuously assesses environment-level controls through logs that monitor Continuous Integration and Continuous Delivery(CI/CD)activity,access controls,infrastructure segregation,and code lineage integrity.Together,these layers of real-time and historical measures form a layer of privacy assurance that allows IQVIA to detect issues before they lead to downstream consequences.Oversight without exposureWhile AI PrivOps maintains visibility into all stages of the data lifecycle,it does so without ever needing direct access to raw data or modeling internals.This is made possible by its architectural placement:AI PrivOps operates adjacent to,and independent from,the federated learning pipeline.It runs on segregated infrastructure that is securely connected to the broader modeling environment,allowing it to tap into key status signals and metadata artifacts such as model lineage,configuration snapshots,and synthetic data summaries without becoming a bottleneck or point of risk exposure.This separation ensures that AI PrivOps can conduct effective,real-time oversight without interrupting core model workflows or violating the data minimization principles it aims to uphold.It avoids becoming a perpetual“gating mechanism”by focusing on signal intelligence and policy enforcement through measurement and monitoring rather than direct intervention.Key AI and privacy metrics are rendered onto governance dashboards designed for non-intrusive review,allowing governance teams to assess alignment and effectiveness of controls,investigate anomalies,and verify proper handling without ever crossing into protected data space.Human-in-the-loop for accountabilityAI PrivOps incorporates human-in-the-loop processes that ensure governance is automated and context-aware,policy-aligned.A cross-functional governance board composed of legal,privacy,technical,and ethical stakeholders can oversee critical decisions throughout the model lifecycle.This includes approving high-risk feature sets,adjudicating exceptions,and reviewing edge-case applications.When anomalies are detected,such as elevated uniqueness in outputs or unauthorized model behavior,AI PrivOps initiates a formal incident response.The workflow includes automatic pausing,investigation,root cause diagnosis,and corrective action such as retraining,feature suppression,or policy escalation.All actions are logged and included in the process audit history.These same governance structures ensure auditability and traceability.Decisions,transformation,risk score,and mitigation are documented from pseudonymization through to model activation and downstream use.This provides internal accountability and supports external defensibility in audits,partner reviews,or regulatory inquiries.12|Trustworthy AI/ML for Patient Analytics and ResearchEthics Board for patient analytics and research Depending on the level of sensitivity,a cross-functional ethics board can be made responsible for overseeing and monitoring AI/ML efforts,ensuring activities remain aligned with regulatory expectations and continuously update ethical guardrails.These guardrails would be communicated internally to support employee education and reinforce organizational integrity.The recommended structure of an ethics board would include expertise in data ethics,healthcare law,patient privacy,AI governance,and patient analytics.CONTROLS MAPPING FOR SCALABLE AI MANAGEMENTTo build a scalable AI management framework for federated learning,IQVIA employed a structured process known as controls mapping an approach that aligns technical and procedural safeguards with global regulatory expectations and best practice frameworks for data and AI protection(including ISO/IEC standards).This process begins by identifying applicable legislative,sectoral,and jurisdictional requirements relevant to the data and use case at hand.Controls from international frameworks provide a neutral,harmonized baseline from which to design practical and auditable privacy protections.Data protection frameworks,for example,can outline hundreds of potential actions across domains such as risk identification,protection,detection,and response.Rather than implementing every possible control,IQVIA applies a risk-based lens tailoring safeguards based on the sensitivity of data types(e.g.,demographic vs.lab)and specific modeling contexts.This structured mapping process enables prioritization of requirements,ensures continuous alignment with evolving policy landscapes,and facilitates transparent traceability from principle to practice.Large Language Models(LLMs)and AI agents further enhance the efficiency and scale of this effort by rapidly identifying and connecting regulatory requirements to control frameworks while human-in-the-loop reviews maintain context fidelity and subject matter accuracy.The result is a scalable,repeatable,and defensible mechanism for embedding privacy principles within enterprise AI operations.Expert-in-the-loop Verified crosswalks Manual reviewsPrompt optimizationContent mappingData protection frameworkThe use of AI Agents at various stages allows for scalable extraction and mapping of relevant content to selected frameworkIdentify-PRegulations,guidelines,standardsGovern-PControl-PCommunicate-PProtect-PEval scoreLLM |13Based on procedural guidelines and ethical guardrails,a governance intake form is completed by a business lead,which is designed for use as early as possible when considering the creation of a new analytical use case,and certainly prior to AI/ML.It captures the necessary detail for ethical risk classification while remaining checklist-driven and user-friendly.It acts as a gate in the AI/ML platform and creates auditable proof of responsible AI/ML.Activities flagged for ethical assessment may require collaboration with the ethics board to clarify impact in case mitigations are recommended.If recommendations are deemed overly restrictive,the business unit should immediately discuss with the ethics board.The completed form is stored in an ethics intake repository and reviewed prior to AI/ML.ConclusionIQVIAs Synthetic Trends Engine represents a fundamental shift in how machine learning is applied to sensitive health data.This approach meets and exceeds current expectations for AI and data protection by embedding technical safeguards like non-reversible transformation,federated processing,and latent space modeling directly into the system architecture.By minimizing exposure risk while maintaining high modeling utility,the platform delivers measurable value without compromising patient trust.Crucially,this is a continuous alignment and verification exercise with monitoring and oversight through AI Governance and Privacy Operations(AI PrivOps),real-time risk monitoring,and governance checkpoints ensure that safeguards remain effective over time.The system is designed to adapt to evolving threats,organizational needs,and regulatory landscapes turning privacy and AI security into operational features.This model sets a new ethical benchmark for health-related patient analytics and research.By shifting from reactive privacy controls to proactive AI-secure design,it aligns with global best practices while addressing the unique risks of emerging AI threats.With embedded transparency,human-in-the-loop governance,and architectural discipline,this approach raises the bar for responsible AI proving that innovation and accountability can go hand in hand.AcknowledgmentIQVIA Applied AI Science designed and developed the IQVIA Synthetic Trends Engine.It is enabled by our secure health fabric and AI Governance and Privacy Operations(AI PrivOps)monitoring to produce auditable proof of continuous oversight and protection.The Synthetic Trends Engine can be used in a standalone data cleanroom or in a federated learning approach,for a variety of health and wellness applications that require robust implementation of privacy and security measures against emerging AI threats.IQVIA Applied AI Science is a leader in developing advanced AI methods and platforms,powered by Privacy Analytics for third party assessments and privacy operations monitoring.2025.All rights reserved.IQVIA is a registered trademark of IQVIA Inc.in the United States,the European Union,and various other countries.08.2025.RWS.BCS2025-2517-08AUGCONTACT USdefensibleAI
2025-10-29
16页
5星级
White PaperThe Path to CAR TCell Therapy Uncovering barriers to patient access SASHA LAUKS,MSc,Principal,IQVIA Strategy Consulting NICHOLAS GOULD,MSE,Associate Principal,IQVIA Strategy Consulting ELIZA BROSGOL,Consultant,IQVIA Strategy Consulting VALENTINA CEGLIA,PhD,Associate Consultant,IQVIA Strategy Consulting ADAM SOHN,MBA,Vice President,IQVIA Strategy ConsultingTable of contentsIntroduction 1Methodology 2Sample 2Overview of survey outputs 3Barriers experienced at a referring center 4Perceived patient ineligibility 4Patient hesitancy 5Coordination with ATCs 5ATC uncertainties 5Barriers experienced at ATCs 6Poor patient health 6Perceived CAR T-cell therapy risks 7Perceived affordability challenges 7Logistics 7Priority solution areas 8Referring oncologists 8Treaters and administrators 9Patient advocacy groups 10Pharmaceutical manufacturers 10Conclusion 11Appendix 12References 14About the authors 16 |1CAR T-cell therapies generated intense anticipation ahead of their 2017 launch,offering a potentially transformative approach to combat cancers that experts had previously deemed incurable.1 Since initial authorization,CAR T therapies have expanded rapidly across multiple hematologic malignancies,now with six FDA-approved products addressing a broad range of relapsed or refractory B-cell lymphomas,leukemias,and multiple myeloma(Appendix,Table 1).2,3,4 These CAR T therapies have demonstrated superior efficacy compared to standard-of-care treatments and typically acceptable risk-benefit profiles,prompting label updates that approved CAR T usage in earlier lines of therapy,and eliminated the FDAs Risk Evaluation and Mitigation Strategy(REMS)program.4,5In the United States,most patients begin their treatment journey at a practice likely located near their home.They are often managed by a general oncologist or hematologic oncologist at an institution without advanced CAR T-cell treatment capabilities.When these oncologists believe their patient may benefit from CAR T therapy,they must refer the patient to an Activated/Authorized Treatment Center*(ATC).ATCs are equipped with the necessary infrastructure,have trained personnel,and have been onboarded by manufacturers to administer CAR T-cell therapy.At an ATC,a new healthcare provider(treater)is added to the patients care team.Despite the groundbreaking potential of CAR T-cell therapies in improving patient outcomes,access to these treatments remains limited.In 2024,IQVIA conducted research in a group of community oncologists and CAR T ATC treaters to identify the underlying barriers that have hindered patients access to CAR T for the treatment of Large B-Cell Lymphoma(LBCL).This research uncovered a substantial disparity between the number of patients who may be eligible for the treatment and those who ultimately receive it.Addressing these obstacles is essential to bridge the divide between the transformative potential of CAR T-cell therapy and real-world impact on patients lives.6 Introduction*An Activated/Authorized Treatment Center(ATC)is defined as a hospital that has the specialized infrastructure,training staffed,and regulatory certifications required to safely administer CAR T-cell therapy.63%of eligible patients are never referred to a treatment centerof eligible patients ultimately receive CAR T-cell therapy 2|The Path to CAR T-Cell Therapy:Uncovering Barriers to Patient AccessLOCATIONREFERRING CENTERACTIVATED/AUTHORIZED TREATMENT CENTERREPORTED TIMINGS*5 WEEKS14 WEEKSSTAGE DEFINITIONSPatient eligibilityAssessment of eligibility criteria for CAR T-cell referralReferral to ATCCoordination with ATCs for CAR T-cell therapy candidatesInitial screeningPreliminary(non-appointment)communication with patientFormal/clinical evaluationDetailed patient conversation about CAR T-cell benefits/risks and clinical assessmentCAR T treatment choiceAfter deemed eligible,HCP or patient decision to pursue CAR T-cell vs.other TxReimbursementapprovalEvaluation for insurance access and coverage of CAR T-cell therapyApheresis/patient prepProcedure to collect T cells and key prep steps(e.g.,bridging Tx)Cell journeyKey steps in manufacturing*and delivery of CAR T-cell therapyAdminstrative and monitoringCAR T-cell administration and completion of post-administration monitoringMethodologyTo understand the obstacles throughout the treatment journey,IQVIA conducted a double-blind,LBCL-focused,and product-agnostic survey with 166 stakeholders across the provider landscape between April and May of 2024.This included referring oncologists,CAR T treaters,and CAR T support staff(e.g.,office administrators,case managers,and nurse practitioners),who all play a critical role at various stages of the treatment journey.SampleThe referrers and CAR T treaters included in the sample were either hematologists or oncologists.Each stakeholder had between 3-30 years of experience and spent at least 50%of their time in direct patient care.IQVIA leveraged 2023 claims data to define high and low thresholds for referring oncologists and treaters in addition to triangulating referral and treatment volumes.Within the recruited sample,respondents were classified as either high or low referrers based on the number of LBCL patients they had referred for CAR T-cell therapy in the three months prior to completing the survey.A high referrer is defined as an HCP who referred more than 10 patients to ATC in this period;a low referrer is an HCP who referred more than 1 and fewer than 10 patients to an ATC.IQVIA surveyed 22 high and 45 low referring oncologists.CAR T treaters and support staff were defined as high if they had managed more than 20 LBCL patients with CAR T-cell therapy in the three months prior to participating in IQVIAs survey.A low treater was defined as someone who had managed at least one and fewer than 20 LBCL patients with CAR T-cell therapy in the past three months.The 2024 research sample included 34 high HCPs,25 low HCPs,16 high office administrators/nurse practitioners,and 24 low office administrators/nurse practitioners(Appendix,Table 2).Figure 1:Key stages of the CAR T-cell therapy journey in LBCL,(n=166)*Reported timings of each stage reflect insights from 2024 survey;*Manufacturing occurs offsite from the ATC |3Overview of survey outputsIQVIAs 2024 LBCL research identified and defined each stage of the CAR T therapy journey,including those that occur first in the community setting at a referring center and those that occur at an ATC.At a referring center,there are two sub-stages:Patient Eligibility and Referral to an ATC.At an ATC,there are seven sub-stages,derived from previous IQVIA quantitative and qualitative research,beginning with the treating physician conducting an initial patient screening and continuing through the administration and monitoring stage(Figure 1).The analysis also investigated where and why patients exit the treatment journey.As a result of the research findings,IQVIA developed the CAR T therapy waterfall(Figure 2),quantifying the barriers throughout the journey.Surveyed stakeholders cited a range of barriers across the CAR-T treatment journey,including disease-related factors,patient-specific concerns,and logistical challenges that prevent eligible patients from accessing CAR T-cell therapy.6 Referring oncologists often failed to refer patients because of perceived ineligibility,patient hesitancy,or the complexity of coordinating with ATCs.Meanwhile,CAR T treaters reported that patients may drop off due to poor health status,perceived risks,perceived affordability concerns,or logistical issues.6 Upon analyzing the complete survey data,the findings revealed that almost two-thirds of eligible patients never progress through this initial stage.Moreover,the research indicated that overall,less than 2 out of 10 LBCL patients eligible for CAR T-cell therapy ultimately receive the treatment(Figure 2).Figure 2:Patient attrition across the CAR T-cell therapy journey in LBCL:Waterfall analysis by stage MLKJIHGFEDCBAOncologists referring to centers(n=67)CAR T-cell therapy physicians and support staff at activated/authorized treatment center(n=99)PatienteligibilityReferral to ATCInitial screeningFormal/clinical evaluationCAR T treatmentchoiceReimbursementapprovalCAR T selectedpatientsApheresis/patient prepCell journeyAdministrationand monitoringCAR T-treatedpatientsRelapsedpatients100037%5%5%4%4 %2%1%1%Patients who reacha CAR T center4|The Path to CAR T-Cell Therapy:Uncovering Barriers to Patient AccessBarriers experienced at a referring center In the community setting,there exists an initial set of challenges that leads to almost two out of every three potentially CAR T eligible LBCL patients failing to reach an ATC(Figure 2a).6Perceived patient ineligibilityApproximately 30%of the drop-off that occurs while in the referring setting can be attributed to perceived patient ineligibility.Referring oncologists perceived poor general health and poor Eastern Cooperative Oncology Group(ECOG)performance status(Appendix Table 3)as reasons why relapsed or refractory LBCL patients are ineligible for CAR T therapy.Interestingly,there were clear differences in the criteria used by referrers for determining eligibility that was correlated to their amount of past experience referring for CAR T therapy.The surveyed physicians provided varied responses when evaluating age,comorbidity(number and type),and performance status thresholds for CAR T-cell therapy eligibility.For example,high referring oncologists report referring older LBCL patients(ages 80 )for treatment.Oncologists who have less comfort with CAR T-cell therapy,however,tend to apply lower age cutoffs and are more likely to refer only younger (10 patients to an ATC for CAR T-cell therapy in the past 3 monthsN=22Low referrerReferred 1-10 patients to an ATC for CAR T-cell therapy in the past 3 monthsN=45High volume treatersEvaluated 20 patients for CAR T-cell therapy in the past 3 monthsN=50Medium/Low volume treatersEvaluated 1-20 patients for CAR T-cell therapy in the past 3 monthsN=49Academic setting An academic center or teaching hospital Group practice owned by an academic hospitalReferring oncologists:N=34 High:13 Low:19Treaters:N=55 High:22 Low:33Community setting A non-teaching hospital or community hospital A group practice owned by a community hospital Private practice not owned by a hospitalReferring oncologists:N=33 High:9 Low:26Treaters:N=44 High:28 Low:16Primary medical specialtySpecialty indicated by respondent as primary focus area Referring oncologists:Hematologists:N=43 High:17 Low:26 Medical oncologists:N=24 High:5 Low:1914|The Path to CAR T-Cell Therapy:Uncovering Barriers to Patient AccessReferences 1.IQVIA institute,“Achieving CAR T-cell Therapy Health System Readiness,”IQVIA INSTITUTE FOR HUMAN DATA SCIENCE,2025.2.L.Rosenbaum,“Tragedy,Perseverance,and Chance The Story of CAR-T Therapy,”The New England Journal Of Medicine,2017.3.S.T.Bhaskar,B.Dholaria,N.B.Savani,S.Sengsayadeth and O.Oluwole,“Overview of approved CAR-T products and utility in clinical practice,”Clinical Hematology International,2024.4.Cowen Report,October 2024.5.FDA,“FDA eliminates Risk Evaluation and Mitigation Strategies(REMS)for Autologous Chimeric Antigen Receptor CAR T cell Immunotherapies,”27 June 2025.Online.6.IQVIA,“CAR T LBCL Barrier Quantification,”2024.7.FDA,“Yescarta Package Insert,”Online.8.FDA,“Breyanzi Package Insert,”Online.9.R.Houot,E.Bachy,G.Cartron,F.-X.Gros,F.Morschhauser,L.Oberic,T.Gastinne,P.Faugier,R.Dulery,T.Catherine,M.Joris,F.Jardin,S.Choquet,O.Casanovas,G.Brisou,M.Cheminant,J.-O.Bay,F.L.Gutierrez,C.Menard,K.Tarte,M.-H.Delfau,C.Portugues,E.Itti,X.Palard-Novello and F.Lomonnier,“Axicabtagene ciloleucel as second-line therapy in large B cell lymphoma ineligible for autologous stem cell transplantation:a phase 2 trial,”Nature Medicine,2023.10.ECOG-ACRIN Cancer Research Group,Online.11.Crochet,G.Iacoboni,A.Couturier,E.Bachy,J.Iraola-Truchuelo,T.Gastinne,G.Cartron,T.Fradon,B.Lesne,M.Kwon,R.Gounot,N.Martinez-Cibrian,C.Castilla-Llorente,P.Abrisqueta,M.Guerreiro,C.Sarkozy,J.M.Aspa-Cilleruelo,V.Camus,S.Guidez,A.Chauchet,E.Deconinck,K.Bouabdallah,F.Bosch,P.Barba,F.Morschhauser and R.Houot,“Efficacy of CAR T-cell therapy is not impaired by previous bispecific antibody treatment in large B-cell lymphoma,”Blood,2024.12.V.Patel,K.Baker,D.Fishman,S.Lessans,T.Morris,B.Dholaria,R.Jayani,A.A.Kassim,T.K.Kim,D.Morgan,O.O.Oluwole,B.N.Savani,S.M.Sengsayadeth and S.Bashkar,“Impact of time from referral to treatment on outcomes and cost of therapy for patients undergoing Chimeric Antigen Receptor T-Cell therapy for B-Cell Lymphoma:an intention to treat analysis,”Blood,p.5080,2023.13.American Cancer Society,“CAR T-cell Therapy and Its Side Effects,”Online.14.M.Kamdar,M.Shadman,S.Ahmed,J.Abramson,M.-A.Perales,A.Nausheen,S.Mirza,I.Isufi,M.Frigault,J.L.Crombie,D.B.Miklos,A.Vasconcelos,A.Crotta,D.Bernasconi,D.Roy,E.Bleickardt,M.Pasquini,B.Hunter and M.A.Lunning,“Optimizing post-chimeric antigen receptor(CAR)T cell monitoring:evidence across lisocabtagene maraleucel(liso-cel)pivotal clinical trials and real-world experience,”Journal of Clinical Oncology,|15References(contd)15.Mikhael,J.Fowler and N.Shah,“Chimeric Antigen Receptor T-Cell Therapies:Barries and Solutions to Access,”ASCO Publications,2022.16.A.Sureda,S.El Adam,S.Yang,E.Griffin,J.Baker,K.Johnston,F.Rivas Navarro,S.Alhasani,A.Chhibber,A.Wang and A.Muebi,“Logistical challenges of CAR T-cell therapy in non-Hodgkin lymphoma:a survey of healthcare professionals,”Future Oncology,pp.2855-2868,2024.17.K.ORourke,“ASCO releases guideline on CAR T-cell therapy:A multidisciplinary teams recommendations help in the recognition,workup,evaluation,and management of the most common chimeric antigen receptor(CAR)T-cell-related toxicities:A multidisciplinary teams,”Cancer,2022.18.ACCC,“ACCC Provider Education department,”Online.19.Cancer Support Community,“CAR T Navigation Referral,”Online.20.P.Riedell,C.Downs,L.Boehmer,J.Ebmeyer,D.Porter and A.Williams,“If they RECUR,you should refer:a community oncologist patient ID roundtable summary,”ASTCT,2024.21.Susan Lang Pre CAR T-cell Therapy Travel Assistance Program,Online.22.Leukemia&Lymphoma Society,Online.23.Patient Access Network,Online.24.HealthWell Foundation,Online.25.Cell Therapy 360,Online.This paper was supported in partnership with Bristol Myers Squibb,a global pharmaceutical company.About the authorsSASHA LAUKSMSc,Principal,IQVIA Strategy ConsultingSasha is a Principal within IQVIAs Strategy Consulting Group,bringing over a decade of experience in leading complex,high-impact commercial engagements with biopharmaceutical companies across the product lifecycle.Drawing on her global experience,she leverages integrated data and analytics to deliver actionable insights and evidence-based,cross-functional strategies that drive success.Her expertise spans commercial and go-to-market strategies,market readiness and shaping efforts,asset and portfolio growth and optimization,and loss-of-exclusivity(LoE)planning.Sasha holds a BSc in Biological Sciences(minor Business Administration),and a MSc in Managerial Economics&Strategy.NICHOLAS GOULDMSE,Associate Principal,IQVIA Strategy ConsultingNicholas is an Associate Principal in the Brand&Commercial Strategy center of excellence at IQVIA,where he helps lead strategic assessments focused on CAR T therapies,supporting companies in optimizing treatment access and opportunity through patient segmentation,treatment pathways optimization,and market positioning.Previously he has held roles in industry working to directly improve patient care through improved clinical trial outcomes.Nicholas holds a Master of Science in Engineering from the University of Pennsylvania and a Bachelor of Engineering from Vanderbilt University.ELIZA BROSGOLConsultant,IQVIA Strategy Consulting Eliza is a Consultant at IQVIA Strategy Consulting.Her key areas of focus include Brand and Commercial Strategy engagements for global pharmaceutical clients.She has experience in the oncology space,supporting companies with opportunity assessments and strategies to confront access challenges.Eliza holds a Bachelor of Arts in Economics from Haverford College.VALENTINA CEGLIAPhD,Associate Consultant,IQVIA Strategy Consulting Valentina is an Associate Consultant at IQVIA Strategy Consulting focusing on global projects for pharmaceutical clients.She is experienced in go-to-market and product launch strategy in oncology,helping clients understand new markets and developing innovative entry strategies.She holds a Bachelor of Science from the University of Trieste(Italy),a double degree Master of Science in Genetics from the University of Trieste(Italy)and the University of Paris VII(France),and a Ph.D.in Cell and Molecular Biology from the University of Paris XII(France).ADAM SOHN MBA,Vice President,IQVIA Strategy Consulting Adam Sohn is currently Vice President,Strategy Consulting where he leads a team focused on advancing patient engagement,new commercial models and integrated digital health solutions.During his nearly 30-year healthcare career,Adam has specialized in global commercial strategy development with particular attention to pricing and market access,evidence development,policy,launch strategy,and value driven models.He has worked in the CAR-T space for well over a decade supporting pharma with clinical and commercial development.Adam holds an MBA from Columbia Business School and an undergraduate degree in Political Economy from Princeton University.16|The Path to CAR T-Cell Therapy:Uncovering Barriers to Patient AccessCONTACT US 2025.All rights reserved.IQVIA is a registered trademark of IQVIA Inc.in the United States,the European Union,and various other countries.09.2025.USCAN
2025-10-29
19页
5星级
White PaperSemaglutide LoE in India A rare opportunity demanding a new playbookASIT SABAT,Senior Principal,Management Consulting,IQVIA DHIRAJ MENDIRATTA,Principal,Management Consulting,IQVIANIMITT DESAI,Associate Principal,Management Consulting,IQVIATable of contentsIntroduction 1Indias role in shaping the global anti-obesity opportunity 2Why Semaglutides LOE in India may reshape both IPM and the global obesity market 2Semaglutides LOE in India:Historical trends vs.emerging paradigms 3Historical LOE playbook:common themes 3Semaglutides LOE in India:A distinct departure from historical norms 4Estimating the total market opportunity 11Strategic imperatives for generics players 13Strategic imperatives for innovators 14Key factors that are likely to play in favor of the innovators 14Key challenges the innovators need to navigate 15Conclusion:Indias Semaglutide LOE A strategic blueprint for global obesity care 16For innovators 16For generics players 16For the global obesity ecosystem 16Appendix 17References 19About the authors 21 |1IntroductionObesity is no longer a marginal health issue,it is a global epidemic with systemic implications across cardiometabolic health,mental well-being,and healthcare economics.By 2050,nearly two-thirds of the global adult population is projected to be overweight or obese,with Asia contributing significantly to this surge.The global anti-obesity market is forecasted to reach between$100 billion and$200 billion by 2030,driven by a rich pipeline of over 150 assets,expanding indications,and rising patient demand.1,2India is at the center of this transformation.With over 150M individuals above the BMI threshold for pharmacotherapy and a rapidly growing self-pay segment,India is not just a large market,it is a strategic launchpad for the next wave of obesity care.Semaglutides Loss of Exclusivity(LoE)in India,expected within 12 months of innovator launch,creates a rare convergence of scale,timing,and strategic ambiguity where market rules are still being written.This paper contends that semaglutides LOE in India is unlikely to follow the traditional generics playbook.The market is still being shaped,patient journeys are evolving,and therapy adoption is influenced as much by patient pull as by prescriber push.The compressed innovator launch window,coupled with rising patient awareness and evolving diagnostic frameworks,creates a strategic white space,one that demands reinvention,not replication.This paper draws on IQVIAs global and India-specific research to address five critical questions that will shape strategic choices for both innovators and generics players:Why India will be a critical market for the global anti-obesity opportunity?Will semaglutides LOE in India follow historical patterns of other LoEs,or will it redefine them?What is the overall opportunity size?What are the strategic imperatives for generics players?What are the strategic imperatives for innovators?Each section of this paper is structured to explore these questions in depth,offering insights into emerging patient profiles,therapy phase dynamics,patient-led demand,pricing and supply constraints,and the evolving role of digital health and real-world evidence.Indias Semaglutide LOE is not just a commercial event,it is a strategic moment that will shape the future of obesity care across emerging and self-pay markets globally.2|Semaglutide LoE in IndiaIndias role in shaping the global anti-obesity opportunity India is not just another market in the global obesity narrative;it is one of the first real battleground for Semaglutide post-LOE.With early patent expiry,a vast self-pay population,and a digitally connected ecosystem,India offers a rare convergence of scale,timing,and strategic ambiguity where market rules are still being written.Why Semaglutides LOE in India may reshape both IPM and the global obesity market1.Early LOE timing in a high-burden market India ranks as the third-largest obesity population globally,with 150M individuals above the BMI threshold for pharmacotherapy.Post LoE,the potential patient pool who can afford the Obesity therapy(25%to 30%)is estimated to be higher than many developed or emerging markets.3 It will be among the first markets globally to experience semaglutides LOE,making it a live test case for how generics and innovators will compete,shape demand,and define pricing norms.2.A market still in formation Unlike mature LoE scenarios,Indias obesity care ecosystem is still evolving.Patient journeys are fragmented,therapy adoption is nascent,and patient awareness is rising.This creates a strategic white space,where generics wont just compete,theyll co-create the category alongside innovators.3.Scalable learnings for global self-pay markets Indias market dynamics mirror those of other emerging and self-pay geographies,making it a blueprint for global launches Out-of-pocket dominance:Indias self-pay structure reflects the future of obesity care in LMICs,where affordability and patient engagement will be decisive.Segmental heterogeneity:Winning in India requires a fit-for-purpose strategy across income segments,specialties(Endocrinology,Diabetology,Cardiology,Gynecology,CPs,GPs),and geographies(states and town class).These insights can be transferable to other fragmented markets.Digital infrastructure:With 900M internet users and 400M UPI users,India offers a scalable testbed for digital-first GTM models,alternate channels,and patient engagement strategies.54.Policy tailwinds and ecosystem activation The Indian government is increasingly recognizing obesity as a public health priority.Initiatives under NP-NCD,POSHAN Abhiyaan,and FSSAIs campaigns offer a policy tailwind for market shaping.Indias policy evolution could influence frameworks across LMICs,especially where public-private partnerships are emerging.5.A rare opportunity for scale and long-term potential Post-LOE,obesity is projected to become one of the top five disease areas in the Indian Pharmaceutical Market(IPM),a pace of growth unmatched by any recent therapeutic category.Semaglutides expanding indication base(e.g.,MASH,MACE-3,CKD,heart failure,stroke and kidney disease)positions it as a backbone therapy across cardio-metabolic conditions,offering long-term upside for generics and innovators |36.Indias emergence as a GLP-1 manufacturing hub Indian manufacturers are positioned to play a strategic role in the global semaglutide market post-2026.While China currently dominates the semaglutide API landscape,accounting for nearly 80%of global suppliers,India is rapidly positioning itself as the next major hub.Leading Indian pharmaceutical companies including Aurobindo,Dr.Reddys,Lupin,Alembic,and Biocon are making bold bets on peptide manufacturing,investing in kilo-scale synthesis labs and dedicated API production lines.These infrastructure upgrades signal Indias intent to capture a meaningful share of global GLP-1 demand,especially in regulated markets where capacity and compliance are critical.Semaglutides LOE in India:Historical trends vs.emerging paradigmsIndia has witnessed over 25 Loss of Exclusivity(LOE)events since 2019,particularly in cardio-metabolic categories such as DPP4s(vildagliptin,sitagliptin),SGLT2s(dapagliflozin,empagliflozin),ticagrelor,and sacubitril valsartan.These LOEs have displayed some common themes.6Historical LOE playbook:common themes1.Rapid brand proliferation Within one quarter of LOE,15 to 95 brands typically enter the market.Companies often launch multiple brands across divisions to maximize share of voice and field force leverage.6(Refer Table 1 in Appendix).2.Steep price erosion Generic brands usually launch at 5090%discounts,with median price erosion of 75%within the first year.11(Refer Table 2 in Appendix).3.Aggressive market expansion LOE events have historically unlocked underpenetrated segments across geographies and specialties.Volume growth ranges from 2.5x to 6x,and value growth from 1.2x to 2.2x within two years,driven by lower prices,high promotional intensity,and expanded reach.11(Refer Table 3 in Appendix).4.Innovator response strategies Innovators typically respond by cutting prices(3040%),expanding field force,or selectively defending core prescriber bases.These tactics aim to retain relevance amid generic proliferation.55.Fragmented competitive landscape Despite high entry volumes,8090%of brands fail to scale beyond 10 Cr in two years.The top five generic players(excluding co-marketing and innovator brands)capture only 1545%of molecule volumes,underscoring the intensity and fragmentation of competition.64|Semaglutide LoE in IndiaSemaglutides LOE in India:A Distinct Departure from Historical NormsDespite the above typical characteristics,we believe that the LoE of Semaglutide in India will be distinct than any other we have seen in the past due to the following factors.Compressed launch window for innovators:LoE within 12 months Evolving diagnostic and treatment guidelines:a market still defining its boundaries Increasing role of patient/consumer in decision making:a shift from prescriber-led to demand-led uptake Complex Pricing dynamics Strong Incumbents Maintenance therapy nicheLOE WITHIN 12 MONTHS OF INNOVATOR LAUNCH:In most previous LOEs,the innovator has been in the market for over 6 to 10 years.This ensures that market creation or therapy shaping is usually done by the innovator,and when generics are introduced,the launch playbook is generally known,focusing on expanding the market through aggressive promotion,increasing reach,and boosting share of voice.We have observed this in most LOEs.However,in this instance,when the LOE occurs,the innovators(both Novo and Lilly)will have less than a year of presence in the market.This implies that the market dynamics will still be developing,offering numerous opportunities to shape the market even for generics players.Key strategic questions likely to remain unresolved at the time of LOE:1.Diverse and evolving patient journeys How do patients enter the therapy funnel?Will they seek treatment proactively or via comorbidity-driven physician referrals?How do the patient journeys differ by profile?Established patients vs.new seekers:patients having an established relationship with their physician(due to other health conditions)versus new ones seeking treatment.Comorbid conditions:Diabetes,Hypertension,PCOD,NASH.Lifestyle-influenced obesity segments:Lifestyle-driven Urban working Women,Body-Conscious Young Adults,Young Male Professionals/Image Conscious,Exhausted Strugglers,Postnatal Wellness Patients etc.(refer Table 4 in appendix).Event-based users/recreational users:weddings,anniversaries,reunions,birthday or other social events/milestones2.Unclear prescriber segmentation Which specialties will lead obesity pharmacotherapy Endocrinologists,Diabetologists,Cardiologists,Gynecologists,CPs,GPs,Dermatologists?Will e-consultation based doctors be a separate category that needs to be addressed differently?Will comorbidity drive prescription behaviour,or will aesthetic/lifestyle motivations dominate?3.Rise of Non-HCP influencers and alternate channels Beyond physicians,how influential will e-pharmacies,wellness coaches,digital platforms,and fitness centers be in shaping brand choice?Should generics stick to traditional HCP-led models or build multi-channel GTM strategies?4.Beyond price:The role of engagement,value and holistic care Will price,HCP led field force and engagement alone drive uptake or will value-added services,digital engagement,and brand experience be the key differentiators in shaping brand choice?What is the optimal interplay between anti-obesity pharmacotherapy,nutrition,exercise,and behavioural support across both induction and maintenance phases?What do patients expect from a brand?|5EVOLVING DIAGNOSTIC AND TREATMENT GUIDELINES:A MARKET STILL DEFINING ITS BOUNDARIESSemaglutides LOE in India will unfold in a clinical landscape that is still being shaped.Unlike other therapeutic categories with well-established diagnostic norms,obesity care in India is undergoing a paradigm shift,one that redefines how patients are identified,segmented,and treated.The guidelines and practical application of newer GLP-1s are still evolving to clarify which patient segments are likely to be prescribed anti-obesity pharmacotherapy.Data on Indian patients are yet to be published to provide complete clarity on the usage and impact of GLP-1s across these patient segments.In addition,at the time of loss of exclusivity,the obese comorbid patients who are likely to be the early adopters will still be underpenetrated.Source:IQVIA Consulting AnalysisPatient funnel 2025 Treatable patients anti-obesity Adult population in India(815 Mn)40 MnBMI 27-30:11%BMI 30 :7.4I Mn48 Mn12 MnWith co-morbidities(45%)Without co-morbidities(55%)With co-morbidities(80%)Without co-morbidities(20%)PrevalenceProfilesFrom BMI-centric to multidimensional frameworks:Global guidelines typically define overweight as BMI 25 and obesity as BMI 30.However,revised guidelines for Asian Indians,published in January 2025,move beyond BMI to a stage-based,multidimensional framework.11 These incorporate:Waist circumference(WC)Waist-to-height ratio(W-HtR)Functional limitations Comorbidities and quality-of-life impactDespite this evolution,current clinical practice still leans on BMI 27 as the threshold for initiating pharmacotherapy,creating a disconnect between emerging science and real-world adoption.Implications for market sizing,segmentation and positioning At BMI 27,Indias addressable market is estimated at 150M,including 65M obese (BMI 30).12 Four distinct patient cohorts based on obesity stage and comorbidity are emerging,but prescription clarity for GLP-1s remains limited.Should brands offer comprehensive weight management solutions or focus solely on pharmacological component?Will patients go for the cheapest possible semaglutide and then seek weight management support elsewhere or will the comprehensive solution be a differentiator driving a higher price point and/or loyalty?5.Strategic choice:Share capture vs.market creation:Should generics compete for share within existing GLP-1 usage or invest in expanding the funnel through new patient segments and positioning strategies?6|Semaglutide LoE in IndiaWith these evolving market dynamics,several strategic questions remain open for generics players:Which patient segments should be prioritized from positioning perspective:comorbid driven or lifestyle motivated?How should they approach the expansion of the market beyond the obese comorbid segments.Should players follow a sequential strategy,targeting existing GLP-1 users and established patient segments,or a parallel approach that expands the funnel through broader positioning?How should brands tailor their value proposition and GTM model to align with this evolving diagnostic and treatment landscape?INCREASING ROLE OF PATIENT/CONSUMER IN DECISION MAKING:A SHIFT FROM PRESCRIBER-LED TO DEMAND-LED UPTAKEIn traditional Rx categories,brand choice has largely been shaped by prescriber behaviour,field force engagement,and price.However,the obesity care market,especially in the context of GLP-1 therapies is witnessing a fundamental shift toward patient-driven demand.1.Global signals:Patient pull driving uptakeIn developed markets,GLP-1 therapies have seen strong uptake despite limited reimbursement.Public reimbursement of AOMs remains very limited;the private market takes on a new significance*Some private reimbursement in Germany with private insurers,generally for obesity plus a co-morbidity.*LEA=Livelli Essenziali di Assistenza,which define the essential levels of care covered by Italys national healthcare system.*Includes patients paying OOP for Wegovy and Mounjaro onlySource:IQVIA local expertise.Copyright 2025 IQVIA.All rights reservedEuropean AOM market summaryNumber of patients paying OOP for AOMs(estimates from IQVIA data,selected countries)COUNTRYOOP MARKETWEGOVY REIMBURSEDMOUNJARO REIMBURSEDUKGermanyLaw/policy prevents reimbursement*FranceEarly access programme onlyItalyObesity not yet formally recognised within LEA*SpainDenmarkSwedenNorwayFinlandSwitzerland Strict limitations(BMI etc.)PortugalTurkey50%for certain sick funds50%for certain sick fundsIsraelKSA300,000 UK*Germany*Denmark*NorwaySwedenFranceFinland1,500,000 100,000 100,000 80,000 40,000 10,000 |7Brands like Ozempic,not even indicated for obesity,have outperformed obesity-specific drugs like Wegovy driven by patient awareness,social media influence,and self-pay willingness.As of 2024,global revenues of Ozempic stood at$17 Bn compared to that of$8.45 Bn for Wegovy.92.Indias emerging patient influenceIn India,the ease of digital access(Google,ChatGPT,Perplexity etc.)and rise of social media ecosystems is reshaping how patients engage with therapy choices.While HCPs will remain central to initiation,especially in early adoption phases,the role of the patient in brand selection is expected to be significantly higher than in previous LOEs.In metro cities,educated,middle-to-high income consumers are increasingly questioning prescriber recommendations.If generics rely solely on HCP advocacy,dropout rates may be higher,and brand conversion weaker.A metric which is very difficult to measure hence by the time brand realises the gap,it may be too late.Source:IQVIA Social Media Intelligence AnalysisMentions of Ozempic suggest the brand name is used synonymously with weight loss drugs in generalTrulicityDulaglutideZepboundMounjaroTirzepatideSaxendaLiraglutideOzempicWegovySemaglutide3.4K30K18K18K20K3K7K26KVolume of mentions for top brands/molecules by country(Aug18-Jul21)TrulicityDulaglutideUnited States of AmericaFranceGermanyUnited KingdomSpainItalyZepboundMounjaroTirzepatideSaxendaLiraglutideOzempicWegovySemaglutide120K16K86K180K123K100K53K1M355K323K1000,000,000U00%Volume of mentions for top brands and molecules by country(Aug21-Jul24)The brand name Ozempic seems to be more popular and users referring to semaglutide might reversibly use the term as Ozempic.While Wegovy is the actual weight loss brand and the volume of mentions have grown,the use of the brand name as a weight loss brand seems lesser compared to its sister brand Ozempic-perception lags clinical realityStrategic implications:As the role of patients and consumers in therapy decisions grows,generics players must rethink their go-to-market approach.Traditional reliance on HCP advocacy and field force engagement may no longer be sufficient,especially in a category where brand choice is increasingly shaped by patient awareness,digital influence,and perceived value.Hence the role of brand building will take the centre stage and how the brand makes its presence across the patient journey and adds value across the journey and addresses the potential barrier for therapy choice and brand choice will be critical.8|Semaglutide LoE in IndiaCOMPLEX PRICING DYNAMICS:WHY SEMAGLUTIDES LOE PRICING IN INDIA MAY LIKELY DEFY HISTORICAL PATTERNS?Unlike previous LOEs in Indias cardio-metabolic space,Semaglutides post-patent pricing trajectory is unlikely to follow the typical steep discount curve to begin with.While generics have historically launched at 5090%lower prices,several structural and market-specific factors suggest a staggered and more cautious pricing strategy for semaglutide in India.1.Cost structure challenges Semaglutide is a long,fatty-acylated peptide manufactured via SPPS conjugation.Key cost drivers include protected amino acids,coupling reagents,and lipidated KSMs like 18-(tert-butoxy)-18-oxooctadecanoic acid which is complex to manufacture.While API prices have dropped by 6075%since 2020,volatility remains due to raw material swings and supply-demand imbalances.11 These dynamics lower COGS over time but create short-term margin pressures,especially for early generic entrants.2.Capacity constraints and global demandIndias LOE timing coincides with several large emerging markets-Canada,Brazil,LATAM alsoopening up between 2026-2028.This simultaneous global demand surge creates intense competition for both API and device capacity.Chinese suppliers now account for 80%of global semaglutide/tirzepatide API capacity,while Indian manufacturers are still scaling up peptide capabilities.12 Innovator investments and FDAs removal of semaglutide from the shortage list have eased US constraints,but global demand remains high,especially in self-pay markets.Indian manufacturers with global aspirations may prioritize higher-margin markets over India during initial capacity allocation.3.Device supply chain complexityThe delivery platform,prefilled pens or reusable injectors is as critical as the drug itself.These devices require:long lead times,specialized assembly and packaging,cold chain infrastructure,coordination with external platform providers,which adds MOQ constraints and operational complexity.This adds another layer of cost and supply risk,especially for early-stage generics.Pricing implications Staggered pricing:Given the above constraints,it is unlikely that semaglutide generics will launch at the typical Indian LOE discount.Instead,a staggered pricing strategy is essential:Initial prices may be higher to avoid stockouts,brand damage,and negative margins.Gradual price reductions can follow as API costs stabilize,device supply improves,and manufacturing yields increase.Opening too low risks undermining brand equity and operational viability in a market where patient expectations and therapy adherence are |9STRONG INCUMBENTS WHY INNOVATORS MAY STILL HOLD GROUND POST-LOEWhile Semaglutide s LOE opens the door for generics,the incumbents,Novo Nordisk and Lilly are strategically positioned to retain meaningful share,even in a competitive,self-pay-driven market like India due to the following reasons.1.India as a strategic priorityBoth Novo and Lilly have signalled clear intent to prioritize India:Competitive pricing tailored to affordability dynamics.Availability of prefilled pens despite global supply chain constraints.Early investments in public awareness and market shaping initiatives.These moves reflect a long-term commitment to building category leadership,not just tactical presence.2.Legacy strength in adjacent categoriesdominance in the insulin space offers a strategic advantage:Strong overlap in prescriber base(Endocrinologists,Diabetologists).Deep-rooted brand equity and trust among HCPs.Sustained leadership despite biosimilar competition,an outcome rarely seen in other LOE scenarios.These legacy strengths could translate into earlypreference and loyalty in obesity pharmacotherapy.3.Brand recall and patient trustIn a category where patient influence is rising,brand recall matters.For many patients especially those seeking therapy for aesthetic or event-driven reasons,quality assurance and trust may outweigh price sensitivity.In early adoption phases,initiation on innovator brands followed by switch to generics may become a common pattern.4.Market shaping advantageGiven the low penetration of anti-obesity pharmacotherapy in India,any investment in market shaping,whether through awareness,advocacy,or ecosystem engagement is likely to benefitthe innovators.Innovators are better positioned to influence early therapy norms and prescriber behaviour.If the price differential is not significant,generics may struggle to displace innovators in key segments.10|Semaglutide LoE in IndiaMAINTENANCE THERAPY OF CHOICE:A STRATEGIC PLAY FOR GENERICSWhile the obesity care market is expected to expand rapidly post-LOE,long-term adherence remains a challenge,even in high-income,self-pay markets.1.Adherence drop-off:A global challenge Across developed markets,less than 10%of patients remain on therapy after 12 months in the out-of-pocket segment.While low adherence in the early years post-launch can be partly attributed to supply constraints and price sensitivity,it still remains a pertinent question how to sustainably improve long-term adherence even in mature healthcare systems.13 IQVIA social intelligence data shows that 32%of patients discontinue treatment due to cost in the US and UK.In India,this number is likely to be even higher.2.Strategic opportunity for genericsThis creates a distinct opportunity for lower-priced,off-patent Semaglutide to serve as the maintenance therapy of choice:Weekly dosing and adequate effectiveness make it suitable for long-term use.Generics can target patients who have already experienced initial weight loss and are looking for cost-effective options to sustain outcomes.However,players focusing on maintenance therapy need to adopt differentiated strategies in terms of positioning,messaging and alternate engagement models compared to those targeting induction and early-phase weight loss.0%GermanyUKCanada*US200%Persistence rate after 12 monthsPercentage of patients who remain on AOM after 12 months*Vast majority of these patients accessAOMs through insuranceIn US,cash payers have persistencerate of just 5ter 12 months,vs.23%for insuredSummary:Why semaglutides LOE will redefine the PlaybookSemaglutides LOE in India is not likely to follow the traditional generics trajectory.Unlike past cardio-metabolic LOEs,this one unfolds in a market still being shaped,marked by compressed innovator presence,evolving diagnostic frameworks,rising patient influence,and fragmented patient |11With innovators having had less than a year to shape the market,generics wont just be competing,they will be co-creating the category.This demands a strategic pivot:success will hinge not on price erosion alone,but on the ability to build trust,influence patient behaviour,and navigate complex supply and cost dynamics in a market where brand equity and ecosystem engagement may outweigh traditional share-of-voice tactics.This is not a moment for playbook repetition,its a moment for playbook innovation.Estimating the total market opportunityIndias obesity care market is on the cusp of a structural transformation,one that will redefine therapeutic norms,commercial models,and category leadership.The convergence of rising patient awareness,early Loss of Exclusivity(LOE)for semaglutide,and expanding treatment options presents a rare opportunity to unlock scale across pharmacological and non-pharmacological segments.Obesity care in India spans three primary modalities:Pharmacotherapy Estimated at 750 Cr in 2024.14 Bariatric Surgery Estimated at 1,500 Cr in 2024.14 Non-Pharmacological Interventions Including wellness,fitness,and nutrition services,estimated at 40,00045,000 Cr.14Treatment of health conditions by using pharmaceutical products(drugs)as medication(incl.Rybelsus).Cost of therapy per month:1600 to 12000.Pharmacotherapy 750Crs 77k surgeries annually,expected to rise to 120k by 2030.Cost of therapy:3.5-7L INR(other costs:pre and post surgery INR 17k-35k).Bariatric surgery 1500CrsConsumer products:Meal replacement,appetitesuppressant,weight loss tonics.Lifestyle interventions:Fitness Nutrition Apps e.g.Healthify me.Non-pharmacological treatment 40-45KCrs Source:IQVIA Consulting AnalysisKey differentiators include:Compressed launch window:With LOE occurring within 12 months of innovator entry,generics will enter a landscape where therapy norms are still fluid.Evolving guidelines and segmentation:Indias shift from BMI-centric to multidimensional obesity definitions complicates market sizing and positioning.Patient-led demand:Brand choice will be shaped as much by digital influence and patient expectations as by HCP engagement.Evolving channels for access to prescriptions like e-prescribing platforms and fulfilment through e-pharmacies will play a critical role to help increase reach of weight loss medications.Pricing constraints:Cost structure,device complexity,and global demand will limit steep price erosion,requiring a staggered pricing strategy.Incumbent advantage:Innovators like Novo Nordisk and Lilly are well-positioned to retain share through brand equity,specialty loyalty,and early market shaping.Maintenance therapy niche:Lower-priced generics may find strategic success in long-term adherence segments,distinct from induction-focused brands.12|Semaglutide LoE in IndiaWhile non-pharma solutions dominate in value,they lack clinical efficacy and long-term adherence.The emergence of GLP-1 and GLP/GIP therapies is shifting the centre of gravity toward pharmacotherapy,driven by superior outcomes and growing patient trust.Base case outlook:9,000 Cr by 2030IQVIAs bottom-up forecast projects the Indian anti-obesity pharmacotherapy market to reach 9,000 Cr by 2030,making it one of the top five therapeutic areas in the Indian Pharmaceutical Market(IPM).15Source:IQVIA forecasting Semaglutide and Mounjaro are expected to anchor this growth,with Semaglutide capturing 4550%market share by 2030 across innovator and generic formulations.15This will lead to Anti-obesity market becoming one of the top 5 disease areas by 2030 among AHT,Cephalosporins,PPIs,Traditional and New Gen OADs.Comparative market benchmarks(MAT July 2025)16 Anti-Hypertensives:17,074 Cr Cephalosporins:11,158 Cr Proton Pump Inhibitors:10,288 Cr Traditional OADs:8,422 Cr New-Gen OADs:6,908 CrThis trajectory positions anti-obesity pharmacotherapy as a core chronic category,rivalling long-established segments in scale and strategic importance.Upside scenario:6,000 Cr additional potential.10The upside hinges on unlocking the non-comorbid,patient-initiated segment,patients without clinical obesity-related conditions who proactively seek therapy for aesthetic,lifestyle,or preventive reasons.Key drivers/assumptions:High public awareness driven by advocacy,influencer engagement,and digital health platforms.Reduced initiation lag:Historically 23 years,now compressing post launch of Mounjaro,Wegovy and Semaglutide generics.Expanded funnel:From comorbidity-driven prescriptions to lifestyle-led demand.Well established and accepted efficacy,safety and tolerability of generics.Source:IQVIA Analysis If adoption accelerates in this segment,an additional 6,000 Cr could be unlocked over the next five years,pushing the total market opportunity well beyond 15,000 Cr by 2030.Anti-Obesity Market Size(Val in INR Crs)7509,00020242030 BaseAnti-obesity market upside(Val in INR Crs)7509,00015,0006,00020242030 BaseConsumer driven market potential2030 Upside |13Strategic imperatives for generics playersGiven the challenging dynamics of BGx(branded generics)in the Indian pharma market,the potential size of opportunity in obesity in the short term with significant headroom and scope for market creation,and the long-term prospects of indication expansion,semaglutides LOE presents a rare opportunity never seen before in the Indian Pharmaceutical Market.With little likelihood of a similar opportunity emerging in the near future,this is a“watershed moment”for the generics players.However,given the unique market characteristics,the winning strategy is less likely to be the traditional share of voice model which has been previously followed with success.The market dynamics indicate that this is not a uniform market,this comprises distinct opportunity segments.Winning will require fit-for-purpose strategies tailored to specific patient cohorts,specialties,channels,and therapy phases.Generics players must define their strategic choices with precision to optimize resources and increase chances of winning:1.Market segmentation and targeting Which patient cohorts to prioritize?Comorbid-driven vs.lifestyle-motivated vs.event-based users.Which specialties to engage and prioritise?Endocrinologists,Diabetologists,Cardiologists,Gynecologists,CPs,GPs,Gastros,Dermatologists etc.Should targeting align with existing strengths or expand into new specialties?2.Channel strategy and stakeholder engagement Besides doctors,who are the other stakeholders that should be targeted?Is your GTM and engagement plan aligned with this?Should the company concentrate solely on the HCP channel,or should it consider a comprehensive channel strategy across alternative channels based on the patient journey?Should you engage with alternative channels such as e-pharmacies,wellness/digital health platforms,teleconsultation platforms,wellness centers,etc.,and how?3.Positioning,differentiation and value proposition Should you focus on maintenance therapy or induction or both?Where is the likelihood of success higher?What is the differentiator for the brand?Will traditional model of Price,HCP engagement,share of voice be sufficient?What other leverage should the brand have?In the decision-making process by the patient,what is the key reason to choose your company brand over many others?Should you focus on the product primarily or a compelling weight management solution in line with the need of your target patient/consumer segment?Can RWE be a differentiator for the brand in the crowded market?Multiple winners across segments:The size and complexity of Indias obesity market means success wont be concentrated among a few players.Distinct winners may emerge across:Specialty segments(e.g.,Gynecology vs.Endocrinology-Diabetology vs.CP/GP vs.allied specialties).Alternative channels(e.g.wellness platforms,teleconsultation,e-pharmacies,specialty clinics).Geographies(e.g.,Metros vs.Tier 1 vs.Tier 2 cities or state/region specific),depending on organizational strengths and focus.This fragmentation creates room for diverse strategic plays,reinforcing the need for tailored,fit-for-purpose approaches.14|Semaglutide LoE in India4.Commercial strategy and GTM model Should you focus on taking the share from existing market to create the market?If yes,how should you drive it in a cost-effective manner?What should be the pricing strategy?Should you go all in at launch or have margins to invest in brand building?Is your distribution model geared up to ensure seamless experience for the patient?What is the optimal go to market model?Is the traditional go to market model enough or sufficient?What partnerships should one have?Should you have a new team for Obesity or have it in existing team?Should you focus on building a brand or play share of voice game with multiple brands across divisions?5.Organizational capabilities and ecosystem leverage Do you have the right capability to win in this market?What additional capabilities you need to build/acquire/borrow to maximise the opportunity?Is there any synergy across the other business segments that can create a differentiated value proposition(e.g.Consumer Health/Med Tech).This is not a moment for tactical responses.It is a moment for bold strategic choices.Strategic imperatives for innovatorsSemaglutides LOE in India presents a unique challenge for innovators.Unlike prior LOEs,this one unfolds within a compressed launch window,leaving limited time for market shaping before generics enter.Yet,this very constraint creates a strategic opening:innovators can still win decisively,provided they adopt an agile,differentiated approach tailored to Indias evolving obesity care landscape.Key factors that are likely to play in favor of the innovatorsSeveral structural and behavioural factors tilt the playing field in favor of innovators.Market scale and segmentation enable coexistence:Indias Obesity market is large enough with diverse patient segments and customer segments where both innovators and generic players can coexist.Historical precedents show that innovators can retain leadership even in the presence of lower-priced generics.Higher willingness to pay in this category:Unlike other chronic therapies,obesity pharmacotherapy often serves lifestyle and event-driven needs.Patients may be less price-sensitive when quality assurance and brand trust are at stake.Superior brand recall and advocacy:Innovator brands benefit from early investments in awareness,influencer engagement,and prescriber trust-advantages that are hard to replicate quickly.Patient-centric brand choice:In contrast to traditional Rx categories,patients in obesity care play an active role in brand selection.Innovators with strong patient-facing narratives are better positioned to convert demand.Specialty loyalty and legacy strength:Innovators have entrenched relationships with super-specialties(Endocrinology,Diabetology),built over years in adjacent categories like insulin.This loyalty can translate into early preference and sustained share.Market creation advantage:Generics may struggle to expand the category in the short term as unlike the innovator,improving the molecule adoption may not lead to brand adoption.Innovators,having invested in shaping therapy norms,are more likely to benefit from top-of-funnel expansion.Sequential adoption patterns:Among price-sensitive segments,initiation on innovator brands followed by switch to generics is a likely scenario,preserving early share for |15Key challenges the innovators need to navigateWhile innovators hold several structural advantages,sustaining leadership post-LOE will require navigating a complex and competitive landscape.The following challenges demand well an agile strategy and focused execution in a rapidly evolving market.1.Intensifying competitive landscape High Market Attractiveness:The scale and growth potential of Indias obesity market will attract aggressive investments from large domestic players.Share-of-voice saturation:In the HCP channel,innovators will face intense competition from generics deploying expansive field forces and multi-brand strategies.Diverse competitive dynamics:Different competitors will bring various strengths into play,making it challenging to develop a clear competitive strategy.Winners among the generics may not be limited to few,there may be many distinct winners across different segments.For example:Winners based on market share from various specialty segments(Gynecology vs.Endocrinology-Diabetology vs.CP/GP vs.other allied specialties).Winners based on strengths across different alternative channels.Winners based on geographical areas(Metros vs.Tier 1 vs.Tier 2),or regional winners depending on the companys strengths and focus.2.Pricing strategy dilemma Premium vs.Competitive Pricing:Post-LOE,innovators must decide whether to defend premium positioning or recalibrate pricing to remain competitive.Value Narrative:If price differentials widen,innovators must articulate a compelling value proposition to both HCPs and patients,anchored in trust,efficacy,and experience.Reprioritizing market creation investments Pre-LOE advantage:Investments in awareness and ecosystem engagement directly benefit innovator brands.Post-LOE risk:These same efforts may inadvertently expand the funnel for generics.Innovators must reassess:Should market creation investments continue at scale?How can top-of-funnel expansion be linked to brand conversion?Which channels and segments can offer the highest ROI post-LOE?Strategic implicationThe post-LOE environment will not be defined by price alone,it will be shaped by how effectively innovators defend brand equity,engage fragmented stakeholders,and adapt their commercial models.Success will require precision,agility,and a clear value narrative that resonates across both prescribers and patients.16|Semaglutide LoE in IndiaConclusion:Indias Semaglutide LOE A strategic blueprint for global obesity careThe Loss of Exclusivity(LOE)of semaglutide in India is not just a local event,it is a strategic inflection point with global implications.Indias early LOE timing,vast obesity burden,and digitally connected,self-pay-driven market make it a testbed for innovation,competition,and scalable commercial models.For innovatorsThe compressed pre-LOE window demands agility.Brand equity,specialty loyalty,and patient trust offer a strong foundation.However,sustaining leadership will require:Strategic pricing that balances affordability with premium positioning.Differentiated value propositions that resonate with both prescribers and patients.Targeted investments in market shaping that convert awareness into brand preference.Indias heterogeneity across income,geography,and specialty ecosystems offers room for coexistence with generics,but only if innovators adapt quickly and decisively.For generic playersThis is a rare opportunity to move beyond traditional branded generics tactics.Success will hinge on:Prioritizing the right patient segments,prescriber segments and therapy phases,induction vs.maintenance.Building multi-channel commercial models that go beyond HCP advocacy.Crafting compelling brand narratives in a market where patients are active decision-makers.Generics players wont just be competing;theyll be co-creating the category.This demands a strategic pivot from price-led competition to value-led market creation.For the global obesity ecosystemIndias semaglutide LOE is not just about market entry,it is about market architecture.The interplay of patient influence,evolving guidelines,pricing constraints,and fragmented patient journeys will define new norms for obesity care.Unlike previous LOEs,brand choice will be shaped as much by patient awareness and digital engagement as by prescriber advocacy.Indias experience will serve as a blueprint for other emerging and self-pay markets entering the post-LOE phase.The strategic choices made now by both innovators and generics will shape not only market share,but the future of obesity care across LMICs and digitally enabled geographies.This is not a moment to replicate past LOE playbooks.It is a moment to redefine |17AppendixTable 1:Competitive intensity post LOETable 2:Post LOE price erosionJARDIANCE(EMPAGLIFLOZIN)TABLETS 10MG/25MG FORXIGA(DAPAGLIFLOZIN)JANUVIA(SITAGLIPTIN)VYMADA SACUBITRIL/VALSARTAINBRILINTA TICAGRELOR TABLETSELIQUIS(APIXABAN)TABLETSLoss of Exclusivity(India)MARCH 2025LATE 2020JULY 2022MARCH 2021LATE 2019SEPT 2022#of Brands with 1st month592194141513Total Companies291542141311No.of Companies with 1 Brand516-12LCM(Brand extensions launched 12 mos post LoE)2-10-1-Jardiance(empagliflozin)tablets 10mg/25mg forxiga(dapagliflozin)Januvia(sitagliptin)Vymada sacubitril/valsartainBrilinta ticagrelor tabletsEliquis(apixaban)tabletsAt LoELoE 12mosLoE 24 mos4715835920413920299319212914832813842514205871728477162639212214923211496101834411163545181163424169311396Generic price range/unitMedian generic price/unitInnovator price/unit18|Semaglutide LoE in IndiaTable 3:Market expansion post LOETable 4:Patient profilesLOE 12MOSLOE 24 MOSVolumeValueVolumeValueFORXIGA(DAPAGLIFLOZIN)4.2X1.7X8.2X2.3XJANUVIA(SITAGLIPTIN)2X1.1X2.5X1.2XVYMADA SACUBITRIL/VALSARTAIN4.8X1.2X6.3X1.7XBRILINTA TICAGRELOR TABLETS1.8X1.2X2.4X1.6XELIQUIS(APIXABAN)TABLETS2X1.4X2.8X1.7XCONSUMER ARCHETYPECONSUMER PROFILE DESCRIPTION SAMPLE SIZELifestyle-driven Urban Women (2540 yrs.)Motivated by aesthetic outcomes,often fitness/diet aware,likely to follow influencers and wellness trends.Body-Conscious Young AdultsYoung adults(1825)facing social pressure to stay slim.Often try fat burners,keto diets,or“quick fix”hacks.Curious about injections but fear cost or stigma.Young Male Professionals/Fitness-ConsciousMen 2540 who have tried gyms/supplements,often track body image;open to new solutions but skeptical about medication.Tier 2/3 Mass Affordability SegmentMen/women aged 3055;often try herbal/home remedies or OTC products;limited access to specialty care,price sensitive.Postpartum Weight Loss JourneyWomen 2540 recovering from childbirth;likely interacting with nutritionists or OB/GYNs;emotional weight-loss motivations.Wedding/Event ShreddersMen and women preparing for weddings,reunions,vacations looking for short-term“detox”or“shred”programs.Often combined with juice cleanses or cosmetic services.Exhausted StrugglersMen and women aged 3055 whove tried multiple weight-loss methods with little sustained success.Fatigue and frustrated,they are now open to more serious,medically guided solutions like injectables.1.https:/ 2.IQVIA analysis from clinicaltrials.gov 3.IQVIA analysis from primary intelligence&secondary research 4.Internet Usage Statistics in India 2025:Urban vs Rural,Broadband,Mobile Data Trends 5.UPI:Unified Payments Interface-Instant Mobile Payments|NPCI 6.IQVIA analysis IQVIA TSA datasets and secondary sources 7.Diabetes&Metabolic Syndrome Clinical Research&Reviews,July 2025 8.IQVIA analysis from World Obesity Observatory 9.Novo Nordisk 2024 Annual Reports 10.IQVIA consulting analysis 11.Semaglutide|Price|per kg|USD|PharmaC 12.CDMOs gear up for peptide boom amid rising demand for weight-loss drugs|Industry News-Business Standard 13.IQVIA Market Research and Social Intelligence data 14.IQVIA TSA datasets and IQVIA Consulting Analysis 15.IQVIA Forecasting References |1920|Semaglutide LoE in IndiaABBREVIATIONFULL FORMLOELoss of ExclusivityIPMIndian Pharmaceutical MarketBMIBody Mass IndexGLP-1Glucagon-Like Peptide-1GIPGlucose-Dependent Insulinotropic PolypeptideAPIActive Pharmaceutical IngredientKSMKey Starting MaterialSPPSSolid Phase Peptide SynthesisCOGSCost of Goods SoldGTMGo-To-MarketRWEReal-World EvidenceLMICsLow-and Middle-Income CountriesNP-NCDNational Programme for Prevention and Control of Non-Communicable DiseasesPOSHANPrime Ministers Overarching Scheme for Holistic NutritionFSSAIFood Safety and Standards Authority of IndiaUPIUnified Payments InterfaceAOMsAnti-Obesity MedicationsLEALivelli Essenziali di Assistenza(Italys essential levels of care)OADsOral Anti-DiabeticsBGxBranded GenericsOB/GYNObstetrician/GynecologistMASHMetabolic Dysfunction-Associated SteatohepatitisMACE-3Major Adverse Cardiovascular Events(3-point composite)CKDChronic Kidney DiseaseCDMOContract Development and Manufacturing OrganizationTSATherapy Sales AuditAbbreviationsAbout the authorsASIT SABATSr Principal,South Asia Consulting Practice,IQVIAAsit leads IQVIAs South Asia Consulting Practice,encompassing Management Consulting,Real World Evidence,and Tech/AI solutions.Asit brings over 18 years of diverse experience across strategy consulting and the pharmaceutical industry.Prior to his current role at IQVIA,he spent close to seven years at Roche Pharmaceuticals,where he held leadership roles across corporate strategy,business development,launch excellence,commercial excellence,and P&L ownership across multiple specialties.He successfully led cross-functional teams spanning medical,commercial,and market access.At IQVIA,Asit has partnered with global and Indian MNCs,domestic leaders,and private equity firms across Lifesciences,Consumer Health,and MedTech sectors.His work focuses on shaping growth strategies,improving profitability,and enabling entry into new business verticals.Areas of Expertise:Transformation Management|Market Entry Strategy|Growth Strategy|P&L Management|Launch Excellence|Pricing&Market Access|Commercial Excellence|Change Management|Business Model Innovation.DHIRAJ MENDIRATTAPrincipal,South Asia Consulting Practice,IQVIADhiraj is a Principal leading Analytics,Commercial Excellence practice at IQVIA South Asia.He comes over 15 years of experience across commercial strategy,market research,and data-driven insights in the pharma,healthcare,and consumer health sectors.He has successfully delivered strategic engagements for both multinational and domestic clients across India and the Middle East.Prior to IQVIA,Dhiraj held roles at Moolchand Hospital,and Birla Research&Life Sciences.He also co-founded Goben Ventures,a health-tech startup focused on corporate wellness solutions.Dhiraj brings deep expertise in leveraging primary research and pharma datasets-including Rx,sales,and patient-level data to inform strategic decision-making.His work spans sales force effectiveness,go-to-market strategy,forecasting,and commercial launch planning.Areas of Expertise:Commercial Strategy|Market Research|Sales Force Effectiveness|GTM&Growth Strategy|Forecasting|Project Management&Implementation|Commercial Launch Planning.NIMITT DESAIAssociate Principal,South Asia Consulting Practice,IQVIANimitt is part of IQVIAs Commercial Strategy and Analytics practice in India,with over 12 years of experience spanning marketing,strategy,and analytics in the healthcare and pharmaceutical industry.He has led and supported strategic engagements across therapy areas including anti-obesity,diabetes,cardiology,and gastroenterology.Prior to IQVIA,Nimitt worked in life sciences consulting for the US market and held commercial marketing and strategy roles at a top-five pharmaceutical company in India.At IQVIA,he leads projects within the Commercial Excellence and Analytics practice,driving portfolio optimization,launch strategy,and go-to-market planning.Areas of Expertise:Portfolio Optimization|GTM Strategy|Market Sizing&Forecasting|ROI Assessment|Launch Strategy|Sales Force Effectiveness|Technology Foresight&Pipeline A|21 2025.All rights reserved.IQVIA is a registered trademark of IQVIA Inc.in the United States,the European Union,and various other countries.10.2025.EMEA.BCS2025-2930-09SEPCONTACT USAsit SabatConsulting Head,IQVIA South ADhiraj MendirattaPrincipal,Management Consulting,IQVIA South ANimitt DesaiAssociate Principal,Management Consulting,IQVIA South A
2025-10-29
24页
5星级
White PaperMind Matters:Shining the spotlight on Alzheimers Disease in India RUPANWITA GHOSH,Associate Medical Director,Medical Sciences and Strategy,IQVIA APACTable of contentsIntroduction 1Diagnosis of Alzheimers disease 2Management of Alzheimers disease 3Clinical research scope for India in Alzheimers disease 6Large patient population and genetic diversity 6Rising prevalence of Alzheimers disease in India 6Potential for biomarker research 7Cost-effectiveness7Strengthened infrastructure and training 7Global data sharing 7Stable and favourable regulatory environment 7Linguistic and cultural diversity 8Caregiver roles and responsibilities 8English-speaking healthcare professionals 8Growing pharmaceutical industry 8Dementia clinical research in India 8Conclusion 9Acknowledgment 9Disclosures 9References 10About the authors |1IntroductionFigure 1:Dementia cases by country:2019 vs.projected 2050The prevalence of Alzheimers disease in India has become a growing concern today.As per recent data,Alzheimers disease prevalence in India is 7.4%among adults over the age of 60 meaning about 8.8 million Indians are currently living with Alzheimers disease.1 By 2050,people over 60 years of age are predicted to constitute 19.1%of the total population.This alarming trend is attributed to various factors,including an aging population,reduced trends in fertility,increased life expectancy and evolving lifestyles.Worldwide,according to the Global Burden of Disease Study(GBDS)2019 within the span of 2019-2050 the number of dementia cases will undergo a whopping increase of 166%,impacting the lives of 1528 million individuals;these estimates are similar to the predictions by WHO.Furthermore,this elevation in the number of dementia cases is projected to be highest(up to 330%)for countries like India that scale low on the Socio-Demographic Index(SDI).In 2019,India was the 4th largest contributor to the global burden of dementia and by 2050 it is expected to surpass Japan and USA to become the country with the 2nd largest number of dementia cases(next only to China)(Figure 1).2China20192050Dementia cases(in millions)252015105IndiaUSARussiaJapan01322.54.111.45.89.61.32.34.63.82|Mind Matters:Shining the spotlight on Alzheimers Disease in India In this white paper,we strive to deep dive into the diagnostic and management trends for Alzheimers disease in India vis a vis the Western counterparts as well as look into the challenges India faces and the opportunitiesthatIndiahastoofferintheAlzheimersdisease clinical research arena.Diagnosis of Alzheimers diseaseIn India,the diagnostic methods patients family history,medical records,neuroimaging,cognitive tests,biomarkers,and laboratory tests(in order to rule out thyroid problems,metabolic issues,kidney disorders,anemiaandvitaminB12deficiencyetc.)aresimilartothat applicable in Western countries.Diagnosing Alzheimers disease sometimes may present with few unique challenges especially in rural areas due to factors like limited access to specialized care in understanding dementia and varying literacy levels.The urban metros in India have healthcare infrastructure which is fast approaching global healthcare standards.Hospitals and clinics such as Kokilaben Hospital in MumbaiandCAREHospitalsinHyderabadofferspecialized clinics for early diagnosis and management of Alzheimers disease.Initiatives like the Alzheimers and Related Disorders Society of India(ARDSI),a registered non-profitorganizationthatworkin20pluscitiesacrossIndia also provide support and resources.PET scans,specificallyamyloidPETandtauPET,areincreasinglyused in India for the diagnosis and management of Alzheimers disease,particularly in cases with unclear diagnoses or when monitoring disease progression.HealthyNormalneuronAmyloidplaquesAlzheimersdiseaseManagement of Alzheimers diseaseIn India,the management of Alzheimers disease primarily involves the use of cholinesterase inhibitors like donepezil,rivastigmine,and galantamine which account for half of the market share of Alzheimers drugs in India.NMDA(N-methyl-D-aspartate)receptor antagonist,memantine,make up 20%of the market share,while combination therapies and anti-amyloid monoclonal antibodies comprise 25%4(Figure 2).Newer disease modifying medications like Lecanemab and Donanemab are available but not widely accessible in India yet.In addition,traditional Indian medicine(Ayurveda)utilizes herbs like Bacopa monnieri,Centella asiatica,and Withania somnifera,which are believed to have neuroprotective and cognitive-enhancing properties.Figure 2:Market share of Anti-Alzheimers drugs in India(2025)Treatment options for Alzheimers have been mainly focusing on managing symptoms.Current medications which include cholinesterase inhibitors like donepezil and NMDA receptor antagonists like Memantine mainly help slow down cognitive decline and improve memory and daily functioning.In addition,non-pharmacological interventions,such as cognitive stimulation therapy and physical exercise,aim to enhance the well-being and functional abilities of Alzheimers patients.Emerging treatment approaches,including immunotherapies and disease-modifying drugs,are under development and in clinical trials.These therapies target the underlying causes of Alzheimers,i.e.amyloid plaques and tau tangles,rather than just mitigating symptoms.InnovativemedicationsofferhopeinthefightagainstAlzheimers.A notable example is Aducanumab,marketed as Aduhelm and developed by Biogen.While gaining FDA approval in the United States in 2021,its use had sparked debates due to concerns about effectivenessandaffordability.Thelackofconvincingclinicalbenefitandhighcostledtolimiteduptakeandultimately,Biogens decision to discontinue the drug.5However,there have been a couple of recent successes with disease modifying drugs in Alzheimers disease arena.The FDA has approved two disease-modifying drugs for Alzheimers disease:Lecanemab(Leqembi)in 2023 and Donanemab(Kisunla)in 2024.Both are monoclonal antibodies that target amyloid plaques in the brain,a key feature of Alzheimers,and are indicated for patients with early-stage Alzheimers,including those with mild cognitive impairment or mild dementia.6 These drugs mark a shift in Alzheimers treatment,aiming to target the diseases underlying causes,such as the accumulation of amyloid plaques in the brain rather than just mitigating symptoms.Disease-modifying drugs present a promising avenue for slowing or halting Alzheimersprogression,offeringrenewedhopetopatients and their families.Access to and pricing of suchmedicationscanposesignificantchallenges,withvariations in availability and costs in I|350.6.0 .0.0%4.4%Cholinesterase inhibitorsNMDA receptor antagonistsCombination therapiesAnti-amyloid monoclonal antibodiesOthers4|Mind Matters:Shining the spotlight on Alzheimers Disease in India Early diagnosis and increased awareness campaignsIn India,dementia is sometimes viewed as a normal part of aging,leading to delayed or missed diagnoses.Social stigma surrounding mental health and cognitive decline can discourage individuals and families from seeking help.Raising awareness about Alzheimers disease,its symptoms,and the importance of early diagnosis is crucial in India.Now that a couple of disease modifying therapies are already available in the West and are slowly making their way into India,the early detection of Alzheimers disease has gained all the more momentum.Anearlydiagnosiswillbeextremelybeneficialtopatients in the event a therapy targeting the underlying disease pathology becomes more readily accessible in India in the near future.The FDA has recently cleared the Lumipulse G pTau217/-Amyloid 1-42 Plasma Ratio test,a blood test,for the early detection of amyloid plaques associated with Alzheimers disease.This test is indicated for adults 55 and older exhibiting signs and symptoms of Alzheimers disease.Agappe Diagnostics,based in India,has partnered with Fujirebio(Innovator of Lumipulse)tomanufacturethistestinIndia,makingitthefirstIndian company to do so.While the test is not yet widely available in India,Agappes initiative to manufacture itlocallyisasignificantsteptowardsmakingitmoreaccessible to patients and healthcare providers.Lumipulse in coming years is most likely going to become a standard biomarker in global clinical trials.7We take a look at some of the Government led initiatives aimed at increasing awareness and facilitate timely diagnosis and management in the next section.Promoting researchIndia needs more large-scale,population-based studies to understand the prevalence,incidence,and risk factors specifictoitsdiversepopulation.The Tata Longitudinal Study on Aging(TLSA)is an ongoing,prospective,community-based,cohort study in India that was started in 2015.The goal of the study is to build a cohort(projected n=1,000)of ageing individuals for longitudinal follow-up to identify risk and protective factors for cognitive decline and Alzheimers disease.A parallel study the Srinivaspura Aging,Neuro Senescence and COGnition(SANSCOG)study is being conducted in rural India.8Currently,adefiniteconclusionabouttheproportionalcontribution of rural vs.urban population to the Alzheimers disease or dementia caseload in India cannot be drawn due to a dearth in availability of such comparative epidemiological studies.However,according to analysis conducted by ARDSI,that is internationallyaffiliatedtoWHObackedAlzheimersDisease International(ADI),in the year 2010 the prevalence of dementia in India ranged between 0.9%-4.8%in urban areas vs.0.6%-3.5%in rural areas.9 There is a need for establishing the state and district level burden of Alzheimers for two important reasons-identifyingtheregionspecificriskfactorsofthe disease and controlling disease progression via their modulation;and framing customized policies that will be better suited to each individual states population.There is also a need to examine the cost of dementia care in India.In 2013,the annual domestic cost of dementia care in India was estimated to range between 20,300-66,000 INR in rural districts and 45,600-202,450 INR in urban districts;more than 50%of the cost was attributed to the expenditure meted towards informal care.10India has rolled out several measures as listed below to facilitate diagnosis and management of Alzheimers disease in the country:|5District Mental Health Program(DMHP),1996:DMHP was initiated under 1982s National Mental Health Program to ensure that mental health services are made accessible along with the general healthcare structure at the community level.Also,support is provided to differenthealthinstitutionsatthecentreaswellasthestate level,in order to facilitate the early diagnosis and management of Alzheimers disease.National Program for Health Care of the Elderly(NPHCE),2011:This scheme aims to address miscellaneous health associated problems in the elderly.Major initiatives under this scheme comprise setting up of geriatric departments,wards and units in regional geriatric centers and district headquarters;establishing rehabilitation units at all community health centers;weekly organization of geriatric clinics at primary health centersbytrainedmedicalofficersanddisseminatingknowledge on healthy lifestyle.Mental Healthcare Act(MHA),2017:Thisactcameintoeffectafterthementalhealthcarebill was passed in the year 2017.MHA aims to deliver affordableandgeographicallyaccessiblehealthcareto patients with mental illness;it provisions for such individuals to thrive and participate in societal activities with dignity and protection against any kind of ill-treatment.As the primary caregivers for majority of the patients with neurological ailments are their family members,this act also aims to assist the family of dementia patients in caring for them.Ayushman Bharat Scheme(ABS),2018:The national health protection scheme ABS proposes todeliveraffordableandaccessiblehealthcarefacilities across the country by catering to the medical requirements of over 100 million poor and susceptible families with a monetary package of up to 0.5 million INR/family.This is particularly relevant in case of dementia patients as currently dementia care is chieflyprovidedatprivatemedicalinstitutionswithhealth specialists and the contribution of government health services or community care services is limited.Successful implementation of ABS can make dementia care services available and accessible to the most vulnerable dementia patients.Atal Vayo Abhyuday Yojna,2020:In2020whenthisschemewasfirstproposeditwastermed-National Action Plan for Welfare of Senior Citizens(NAPSrC),however it was later renamed as Atal Vayo Abhyuday Yojna(AVYAY).Amongst the governments latest scheme for the elderly,AVYAY is targeted towards the welfare of senior citizens.Amongst thedifferentplansofthisschemeistheproposalofbuilding and maintaining housing facilities for senior citizenswhoaresufferingfromsevereAlzheimersand require round the clock care and/or those who are diagnosed with it.Mostoftheschemesoutlinedabovethatspecificallyaccommodate Alzheimers disease/dementia patients are currently at an early stage of implementation.Therefore,predicting their success in managing the Alzheimers associated disease burden is not feasible at present.Cognizanceofthediseaseisthefirststeptowardsitsmanagement;therefore,there is an urgent need for government to educate the masses about Alzheimers The Government policy moves for the welfare of elderly and Alzheimers populationThe government,at both central and state levels,plays a crucial role in addressing Alzheimers disease in India.Key initiatives and examples include:6|Mind Matters:Shining the spotlight on Alzheimers Disease in India through print,networking or media.This will further promote individuals with disease symptoms and/or their families to go for a clinical diagnosis and empower them to utilize the facilities provided by the government under the schemes outlined above and those formulated in the future.11Clinical research scope for India in Alzheimers diseaseTill date,India has participated in 15 global clinical trials(8 completed,2 terminated,5 ongoing)of Alzheimers disease as per the clinicaltrials.gov data.Alzheimers disease clinical trials in India presents opportunities,including a large and potentially treatment-naive patient population,English-speaking healthcare professionals,a growing pharmaceutical industry and a supportive regulatory body making it an attractive location for clinical research.12,13Large patient population and genetic diversityIndiahasalargepopulation,andasignificantportionof individuals with Alzheimers disease may not have received prior treatment,making it a potentially valuable source of participants for clinical trials.India has great genetic diversity owing to several waves of migration from Africa,the Middle East,and central and northern Europe and the subsequent admixture.The caste system and resultant endogamy also contribute to a unique genetic landscape.A large project,GenomeIndia,was recently launched with the aim of performing Whole Genome Sequencing(WGS)in a cohort of 10,000 people from India to produce a catalogue of genetic variations.This project,funded by the Department of Biotechnology,Government of India,isthefirstofitskindinthisregion,bringstogetherresearchers from 20 institutions across India and is the firststeptowardsbuildinganationalgeneticresource.14 Also,since most Alzheimers trials now require early onset Alzheimers disease subset,India can be an attractive population since the mean age of presentation at 66.3 years is almost a decade earlier than the West.15 The proportion of patients with early-onset dementia is found to be high in India(49.9%).SimilarfindingsarereportedbyShajietal.16Rising prevalence of Alzheimers disease in IndiaNutritionaldeficiencies,whichareprominentinLowand Middle Income Countries(LMICs)including India,can have an important role in the pathogenesis of dementia.Higher plasma homocysteine levels have been associated with a higher risk of dementia.17 Evidence also indicatesanassociationbetweenvitaminDdeficiencyand poorer cognition and therefore an increased risk to develop Alzheimers disease.18Another factor that can contribute to an increasing prevalence of dementia in India is the change in the social environment caused by ongoing transition from the joint family system(three generations living together)to nuclear families,which results in less cognitive engagement for the elderly in the current scenario.19India has a high prevalence of diabetes,hypertension,and other vascular risk factors,which can impact the onset and progression of dementia.Emerging evidence from several studies supports the role of vascular risk factors,including hypertension,diabetes,obesity,increased alcohol intake,smoking and increased cholesterol levels in heightening the chances of developing Alzheimers disease or other forms of dementia.20,21 While Alzheimers disease is the most common cause of dementia,Vascular Dementia(VaD)is the second leading cause of late-life dementia and accounts for about 30%of dementia in LMICs including India.22 |7Potential for biomarker researchIndias diverse population and environmental conditions offeruniqueopportunitiestostudytheinterplaybetween genetic,environmental,and lifestyle factors in the development and progression of Alzheimers disease,potentially leading to the discovery of new biomarkers.Indias population ethnicity,race,and languages exhibit considerable diversity most prominent along a north-south divide.In dementia populations in India,associations with ApoE4 polymorphism has beenidentifiedinAlzheimersandvasculardementiasubtypes in both north and south India,urban and rural populations,and is similar to the risk in Caucasians.23,24 Alzheimer-relatedpathologicalfindingsaresimilarinaging populations from Mumbai and New York.Cost-effectivenessConducting clinical trials in India can be more cost-effectivethanindevelopedcountries,makingitanattractive option for pharmaceutical companies seeking to conduct large-scale trials.Strengthened infrastructure and trainingThereisaconcertedeffortbeingmadetodiagnoseandtreat Alzheimers disease and it is primarily neurologists and psychiatrists who diagnose and treat these patients,not general practitioners.Talking about urban area alone,there are approximately 2,000 neurologists,9,500 psychiatrists and 1500 psychiatric social workers,and 80 neurology institutes/departments that are now associated with the management of Alzheimers disease.25 Memory clinics or dementia clinics have been set up in many general/private tertiary care hospitals in India.These clinics are jointly run by the departments of Neurology and Psychiatry and focus on the comprehensive management of Alzheimers disease patients,along with providing information and education for families and emotional support to caregivers.It is these clinics which provide a substantial opportunity for the conduct of clinical trials as they have a huge catchment area,are managedbywell-trainedandmotivatedclinicalstaff,have access to a number of imaging modalities and have appropriately trained people to apply the rating scales.Global data sharing Data sharing is an essential part of clinical research and would be particularly valuable for LMICs including India,where it could reduce research costs and enable more meaningful insights to be gained from existing data.In our opinion,South Asian countries,such as India,that have only recently invested in dementia research wouldbenefitfrombecomingpartofglobalconsortiasuch as the Alzheimers Disease Neuroimaging Initiative and the World-Wide FINGERS network.Being part of such consortia would provide access to state-of-the-art technology to facilitate use of new methodologies,capacity building and bidirectional data sharing.Stable and favourable regulatory environmentThe New Drugs and Clinical Trials Rules,2019,provide a framework for regulating clinical trials in India.The primary regulatory body in India,DCGI(Drugs Controller General of India),has introduced online portals for submissions related to clinical trials,including site additions and changes to principal investigators.Furthermore,there is a move towards simplifying the regulatory review process for certain types of trials,such as extension studies and post-marketing studies.The DCGI recently communicated the need for a Phase III clinical trial in India for lecanemab prior to granting approval for its import and local marketing.This decision underscores a commitment to robust local validation for novel therapeutics.It also presents an opportunity for collaborative research and the generationofregion-specificevidencewhichmayprovidevaluableinsightsinlecanemabsprofileacrossdiverse populations.268|Mind Matters:Shining the spotlight on Alzheimers Disease in India Linguistic and cultural diversityIndias vast linguistic and cultural diversity necessitates adapting cognitive tests and trial procedures to suit local contexts.Many cognitive tests are originally designed for literate populations in English-speaking countries,making it challenging to assess cognitive function in illiterate or semi-literate individuals.However,this issue is largely resolved in todays age and cognitive battery translations in Indian languages are readily available.The Indian Council of Medical Research(ICMR)has developed a Neurocognitive Tool Box(NCTB)to diagnose dementia,MCI(Mild Cognitive Impairment),and their subtypes,in 5 Indian languages.27 ICMR-NCTB shows promise in harmonizing the neuropsychological testing procedure both at the clinical as well as research capacities across the country.28Caregiver roles and responsibilitiesCaregiverrolesandresponsibilitiesdifferinIndia,withextended families and domestic helpers often involved in patient care.This is unique for the collection of data from caregivers,as the concept of a single,primary caregiver may not be applicable.However,in most cases there is a reliable caregiver who can participate in the trial since members of Indian families generally are more emotionally connected and thereby adequately available for the shared information and research requirements.English-speaking healthcare professionalsThe presence of a large number of English-speaking doctors and healthcare professionals facilitates communication and collaboration in international clinical trials.Growing pharmaceutical industryIndia has a well-established pharmaceutical industry,with a strong presence in generic drug manufacturing and a growing capacity for innovative drug discovery,which can support clinical trial activities.Dementia clinical research in IndiaOf 6370 dementia studies documented on Clinicaltrials.gov database only 26(0.4%)have been conducted in India,a country that is home to 17%of the worlds population.29 However,this is in contrast to the report by Kearney et al,below,which shows how India was deemed an attractive global location for clinical trials in 2006after the USdue to the large access to a robust patient population.By addressing the challenges and leveraging the opportunities,Indiacanplayasignificantroleinadvancing Alzheimers disease research and improvingthelivesofindividualsaffectedbythisdebilitating |9ConclusionSomeone in the world develops dementia every 3 seconds.There are over 55 million people worldwide living with dementia in 2020.This number will almost double every 20 years,reaching 78 million in 2030 and 139 million in 2050.Much of the increase will be in developing countries.Already 60%of people with dementia live in LMICs,but by 2050 this will rise to 71%.The fastest growth in the elderly population is taking place in China,India,and their south Asian and western Pacificneighbours.30There is considerable interest,both nationally and internationally,in conducting dementia research in India.Motivated by a rapid increase in the aging populationandadesireforindigenous,self-sufficienthealthcare and medical research,dementia research in India is on course for rapid growth in the coming years.A solid and general clinical research culture and a supportive healthcare system,both tailored to the specificneedsofthedementiafieldanditsvulnerablepatient population,is being established through careful guidance of government regulators and collaborations with academic,industry and public stakeholders both in and outside India.AcknowledgmentsI thank Dr.Cecilia Sison and Dr.Rashna Cama for their meticulousreview,whichwasvitalinshapingthefinalpaper.My sincere thanks as well to Padmini Harish for herdiligenteffortinformattingthepaper,ensuringitisvisually appealing and highly readable.DisclosuresAuthor Rupanwita Ghosh is employee of IQVIA,a contractresearchorganizationthatprovidesscientificand technical services for clinical trials conducted by pharmaceutical companies involved in new drug development.Other than this,she declares no professional,academic,competitive,orfinancialconflictsofinterestrelatedtothisarticle.Nospecificfundingwasused in the survey and in the preparation of this article.10|Mind Matters:Shining the spotlight on Alzheimers Disease in India 1.Scientificpublication:PrevalenceofdementiainIndia:NationalandstateestimatesfromanationwidestudyAlzheimers&Dementia,January 13,2023.2.CSIR-NIScPR Policy Bulletin/February-2023/01.3.https:/doi.org/10.1212/WNL.51.4.1000.4.India Alzheimers Disease Drugs Market Report 2022 to 2030.5.https:/www.alz.org/alzheimers-dementia/treatments/aducanumab.6.https:/www.fda.gov/drugs/news-events-human-drugs/fda-approves-treatment-adults-alzheimers-disease.7.https:/www.fda.gov/news-events/press-announcements/fda-clears-first-blood-test-used-diagnosing-alzheimers-disease.8.Sundarakumar,J.et al.Srinivaspura Aging,Neuro Senescence and COGnition(SANSCOG)study and Tata Longitudinal Study on Aging(TLSA):study protocols.Alzheimers Dement.16,e045681(2020).9.K.S.Shaji,A.T.Jotheeswaran,N.Girish,S.Bharath,A.Dias,M.Pattabiraman,et al.New Delhi:Alzheimers and Related Disorders Society of India(ARDSI)The Dementia India Report:Prevalence,Impact,Costs and Services for Dementia(2010).10.Rao GN,Bharath S.Cost of dementia care in India:delusion or reality?.Indian journal of public health.2013 April 1;57(2):71.11.Dias A,Patel V.Closing the treatment gap for dementia in India.Indian journal of psychiatry.2009 Jan;5(Suppl1):S93.12.Nair,G.,Van Dyk,K.,Shah,U.,Purohit,D.P.,Pinto,C.,Shah,A.B.,Grossman,H.,Perl,D.,Ganwir,V.,Shanker,S.&Sano,M.(2012).CharacterizingcognitivedeficitsanddementiainanagingurbanpopulationinIndia.Int J Alzheimers Dis 2012,673849.13.Dementia Clinical Research in India.Tal Burt,M.D.,Lynne Hughes,Ph.D.,Amir Kalali,M.D.,P.Murali Doraiswamy,M.B.B.S.FRCP(Lond.)DOI:10.1016/B978-0-12-411464-7.00014-6.14.Basu,A.,Sarkar-Roy,N.&Majumder,P.P.Genomic reconstruction of the history of extant populations of Indiarevealsfivedistinctancestralcomponentsandacomplexstructure.Proc.NatlAcad.Sci.USA113,15941599(2016).15.Chandra,V.,Pandav,R.,Dodge,H.H.,Johnston,J.M.,Belle,S.H.,DeKosky,S.T.&Ganguli,M.(2001).Incidence of Alzheimers disease in a rural community in India:the Indo-US study.Neurology 57,985-9.16.Shaji,S.,Bose,S.&Verghese,A.(2005).Prevalence of dementia in an urban population in Kerala,India.Br J Psychiatry 186,136-40.17.Seshadri,S.et al.Plasma homocysteine as a risk factor for dementia and Alzheimers disease.N.Engl.J.Med.346,476483(2002).References |1118.Goodwill,A.M.&Szoeke,C.Asystematicreviewandmeta-analysisoftheeffectoflowvitaminDoncognition.J.Am.Geriatr.Soc.65,21612168(2017).19.Dhillon,P.,Ladusingh,L.&Agrawal,G.Ageing and changing patterns in familial structure for older persons in India:a decomposition analysis.Qual.Ageing Older Adults 17,8396(2016).20.Qiu C,Kivipelto M,Von Strauss E.Epidemiology of Alzheimers disease:occurrence,determinants,and strategies toward intervention.Dialogues in clinical neuroscience.2022 Apr 1.21.LivingstonG,HuntleyJ,SommerladA,AmesD,BallardC,BanerjeeS,BrayneC,BurnsA,Cohen-MansfieldJ,Cooper C,Costafreda SG.Dementia prevention,intervention,and care:2020 report of the Lancet Commission.The Lancet.2020 Aug 8;396(10248):413-46.22.F.J.Wolters,M.A.Ikram.Epidemiology of vascular dementia:nosology in a time of epiomics ATVB,39(8)(2019),pp.1542-1549.23.Ganguli,M.,Chandra,V.,Kamboh,M.I.,Johnston,J.M.,Dodge,H.H.,Thelma,B.K.,Juyal,R.C.,Pandav,R.,Belle,S.H.&DeKosky,S.T.(2000).Apolipoprotein E polymorphism and Alzheimer disease:The Indo-US Cross-National Dementia Study.Arch Neurol 57,824-30.24.Luthra,K.,Tripathi,M.,Grover,R.,Dwivedi,M.,Kumar,A.&Dey,A.B.(2004).Apolipoprotein E gene polymorphism in Indian patients with Alzheimers disease and vascular dementia.Dement Geriatr Cogn Disord 17,132-5.25.Garg K,Kumar CN,Chandra PS.Number of psychiatrists in India:Baby steps forward,but a long way to go.Indian J Psychiatry.2019 Jan-Feb;61(1):104-105.doi:10.4103/psychiatry.IndianJPsychiatry_7_18.PMID:30745666;PMCID:PMC6341936.26.Recommendations of the SEC(Neurology&Psychiatry)made in its 04th/24 meeting held on 12.03.2024 at CDSCO(HQ),New Delhi.27.Iyer GK,Paplikar A,Alladi S,Dutt A,Sharma M,Mekala S,et al.Standardising dementia diagnosis across linguistic and educational diversity:study design of the Indian Council of Medical Research-Neurocognitive Tool Box(ICMR-NCTB).J Int Neuropsychol Soc.2020 Feb;26(2):17286.28.Menon RN,Varghese F,Paplikar A,Mekala S,Alladi S,Sharma M,Onkarappa SA,Gollahalli D,Dutt A,Ghosh A,Dhaliwal RS.Validation of Indian council of medical research neurocognitive tool box in diagnosis of mild cognitive impairment in India:lessons from a harmonization process in a linguistically diverse society.Dementia and Geriatric Cognitive Disorders.2020;49(4):355-64.29.https:/clinicaltrials.gov/search?locStr=India&country=India&cond=Dementia.30.https:/www.alzint.org/resource/world-alzheimer-report-2015/.About the authors RUPANWITA GHOSH Associate Medical Director,Medical Sciences and Strategy,IQVIA APACDr Rupanwita Ghosh is Associate Medical Director,Medical Science and Strategy,Asia,at IQVIA based out of Mumbai.With an impressive academic background,Rupanwita completed her MBBS from Medical College,Kolkata;and has a post graduate diploma in Psychiatry from Institute of Post Graduate Medical Education&Research,Kolkata as well as a post graduate degree in Pharmacology from University College of Medical Sciences,Delhi.Rupanwitahasmorethan8yearsofenrichingexperienceinthepharmaindustryencompassingfieldssuchasmedicalaffairs,clinicalresearchandpharmacovigilance.ShehasbeenassociatedwithpharmaMNCslikeAbbott,Novartisand AstraZeneca spanning various therapeutic areas such as neuropsychiatry,metabolics,diabetes,dyslipidemia and respiratory.She has an expertise in brand strategy planning and implementation,therapy shaping and successful brand launches,strengthening of new product pipelines and portfolios,innovation in advisory boards,international speaker programs and CMEs as well as adept medical writing of original research papers and review articles.Rupanwita has core clinical research experience of almost 3 years after joining IQVIA in therapeutic areas such as neurology,psychiatry and dermatology.She has moderated a productive adboard on“Disease management practices:Common psychiatric conditions”.She has authored a couple of white papers on the intriguing topic of“placebo response”in psychiatry.She has also successfully launched a curated quarterly CNS Newsletter for the CNS powerhouse which has expanded its reach with the recent editions.12|Mind Matters:Shining the spotlight on Alzheimers Disease in India 2025.All rights reserved.IQVIA is a registered trademark of IQVIA Inc.in the United States,the European Union,and various other countries.10.2025.APCONTACT USRUPANWITA GHOSH
2025-10-29
15页
5星级
Future of health 7 The healthcare system of the futureSTUDYThis years Future of health study,the sev.
2025-10-27
52页
5星级
Global report on neglected tropical diseases 2025Global report on neglected tropical diseases 2025Gl.
2025-10-24
132页
5星级
罗兰贝格：预见2026：中国行业趋势报告（90页）.pdf
智源研究院：2026十大AI技术趋势报告（34页）.pdf
中国互联网协会：智能体应用发展报告（2025）（124页）.pdf
三个皮匠报告：2025银发经济生态：中国与全球实践白皮书（150页）.pdf
三个皮匠报告：2025中国商业航天市场洞察报告-中国商业航天新格局全景洞察（25页）.pdf
国声智库：全球AI创造力发展报告2025（77页）.pdf
中国电子技术标准化研究院：2025知识图谱与大模型融合实践案例集（354页）.pdf
三个皮匠报告：2025中国情绪消费市场洞察报告（24页）.pdf
中国银行：2026中国高净值人群财富管理白皮书（66页）.pdf
亿欧智库：2025全球人工智能技术应用洞察报告（43页）.pdf
0731-84720580
商务合作：really158d
友链申请 (QQ)：1737380874
最新报告
中英对照
全文搜索
报告精选
PDF上传翻译
多格式文档互转
入驻&报告售卖
会员权益
机构报告
券商研报
财报库
专题合集
英文报告
数据图表
会议报告
其他资源
研报
新质生产力
DeepSeek
低空经济
大模型
AI Agent
AI Infra
具身智能
自动驾驶
宠物
银发经济
人形机器人
企业出海
算力
微短剧
薪酬
白皮书
创新药
行业分析
个股研究
年报财报
IPO招股书
会议纪要
宏观策略
政策法规
其他
人工智能
信息科技
互联网
消费经济
汽车交通
电商零售
传媒娱乐
医疗健康
投资金融
能源环境
地产建筑
传统产业
英文报告
其它
行业聚焦
芯片产业
热点概念
全球咨询智库
人工智能
500强
新质生产力
会议峰会
新能源汽车
企业年报
互联网
公司研究
行业综观
消费教育
科技通信
医药健康
人力资源
投资金融
汽车产业
物流地产
电子商务
传统产业
传媒营销
其它
十五五规划系列报告合集（共48套打包）
2026低空经济/低空产业报告合集（共47套打包）
AI、科技与通信
广告、传媒与营销
消费、零售与支付
HR、文化与旅游
金融、保险与投资
能源、环境与工业
医疗制药与大健康
物流、地产与建筑
其他行业
AI ▪ 科技 ▪ 通信
数字化
金融财经
智能制造
电商传媒
地产建筑
医疗医学
能源化工
其他行业
收藏
下载
2026-02-02
AI查数
行业数据
政策法规
商业模式
产业链
竞争格局
市场规模
产业概述
其它
2026年
AI读财报
年报
一季报
半年报
三季报
IPO招股书
社会责任报告
A股
IPO申报
港股
美股&全球
新三板
微信扫码登录
手机快捷登录
账号登录
