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为什么血友病基因治疗的采用率低于预期?

Why is the uptake of gene therapy in hemophilia less than expected?

作者信息

Pierce Glenn F, Skinner Mark, O'Mahony Brian, Rotellini Dawn, Kaczmarek Radoslaw

机构信息

World Federation of Hemophilia, Montreal, Quebec, Canada.

Institute for Policy Advancement Ltd, Washington, DC, USA.

出版信息

Res Pract Thromb Haemost. 2025 Jun 23;9(5):102948. doi: 10.1016/j.rpth.2025.102948. eCollection 2025 Jul.

Abstract

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.

摘要

自40多年前克隆出凝血因子(F)VIII和FIX以来,基因疗法一直有望治愈血友病。然而,对基因疗法中使用的主要载体腺相关病毒的科学理解还不足以克服所遇到的许多障碍,导致临床研究失败、疗效有限、利弊不佳,或者3期研究不足以支持广泛的商业应用。然而,功能性治愈(定义为因子水平永久至少达到40%)在一些接受FIX基因疗法的患者中取得了持久的成功。FVIII基因疗法的成功率较低。商业采用缓慢的其他原因包括需要为非常高价的药物建立复杂的报销流程。

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