Glenn F. Pierce , Mark Skinner , Brian O’Mahony , Dawn Rotellini , Radoslaw Kaczmarek
{"title":"为什么基因治疗在血友病中的应用低于预期?","authors":"Glenn F. Pierce , Mark Skinner , Brian O’Mahony , Dawn Rotellini , Radoslaw Kaczmarek","doi":"10.1016/j.rpth.2025.102948","DOIUrl":null,"url":null,"abstract":"<div><div>Gene therapy has held promise to cure hemophilia since factor (F)VIII and FIX were cloned more than 40 years ago. However, scientific understanding of the adeno-associated virus, the predominant vector used in gene therapy, has been insufficient to overcome many of the hurdles encountered, resulting in failed clinical studies, marginal efficacy, unfavorable benefit/risk, or phase 3 studies that do not sufficiently support wide commercial use. However, a functional cure, defined as permanent factor levels of at least 40%, has seen durable success in some FIX gene therapy recipients. Less success has been seen for FVIII gene therapy. Additional reasons for slow commercial uptake include the need to establish complex reimbursement processes for very high-priced drugs.</div></div>","PeriodicalId":20893,"journal":{"name":"Research and Practice in Thrombosis and Haemostasis","volume":"9 5","pages":"Article 102948"},"PeriodicalIF":3.4000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Why is the uptake of gene therapy in hemophilia less than expected?\",\"authors\":\"Glenn F. Pierce , Mark Skinner , Brian O’Mahony , Dawn Rotellini , Radoslaw Kaczmarek\",\"doi\":\"10.1016/j.rpth.2025.102948\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Gene therapy has held promise to cure hemophilia since factor (F)VIII and FIX were cloned more than 40 years ago. However, scientific understanding of the adeno-associated virus, the predominant vector used in gene therapy, has been insufficient to overcome many of the hurdles encountered, resulting in failed clinical studies, marginal efficacy, unfavorable benefit/risk, or phase 3 studies that do not sufficiently support wide commercial use. However, a functional cure, defined as permanent factor levels of at least 40%, has seen durable success in some FIX gene therapy recipients. Less success has been seen for FVIII gene therapy. Additional reasons for slow commercial uptake include the need to establish complex reimbursement processes for very high-priced drugs.</div></div>\",\"PeriodicalId\":20893,\"journal\":{\"name\":\"Research and Practice in Thrombosis and Haemostasis\",\"volume\":\"9 5\",\"pages\":\"Article 102948\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Research and Practice in Thrombosis and Haemostasis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2475037925002729\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Research and Practice in Thrombosis and Haemostasis","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2475037925002729","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Why is the uptake of gene therapy in hemophilia less than expected?
Gene therapy has held promise to cure hemophilia since factor (F)VIII and FIX were cloned more than 40 years ago. However, scientific understanding of the adeno-associated virus, the predominant vector used in gene therapy, has been insufficient to overcome many of the hurdles encountered, resulting in failed clinical studies, marginal efficacy, unfavorable benefit/risk, or phase 3 studies that do not sufficiently support wide commercial use. However, a functional cure, defined as permanent factor levels of at least 40%, has seen durable success in some FIX gene therapy recipients. Less success has been seen for FVIII gene therapy. Additional reasons for slow commercial uptake include the need to establish complex reimbursement processes for very high-priced drugs.