Chou Sheng-Chieh, Hsu Yu-Chen, Lin Shu-Wha
Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan; Liver Disease Prevention and Treatment Research Foundation, Taiwan.
J Formos Med Assoc. 2023 Nov;122(11):1101-1110. doi: 10.1016/j.jfma.2023.05.008. Epub 2023 May 18.
Gene therapy for hemophilia has been investigated for decades but no breakthroughs were made until Nathwani et al. achieved a significant and sustainable factor IX increase in hemophilia B patients in 2011. About eleven years later, in August 2022, the first hemophilia A gene therapy product was approved by the European Commission and hemophilia treatment entered a new era. This review does not focus on the newest advances but rather the practical aspects of gene therapy aiming to provide an overview for physicians who treat hemophiliacs who did not participate in the clinical trials. The current status of gene therapy, focusing particularly on products likely to be clinically available soon, are reviewed and summarized. Currently, possible limitations of gene therapy are pre-existing neutralizing antibodies toward the vector, liver health, age, and inhibitor status. Possible safety concerns include infusion reactions, liver damage, and adverse effects from immune suppressants or steroids. In summary, generally speaking, gene therapy is effective, at least for several years, but the exact effect may be unpredictable and intensive monitoring for several months is needed. It can also be considered safe with careful practice on selected patients. In its current form, gene therapy will not replace all hemophilia treatments. Advances in non-factor therapy will also improve hemophilia care greatly in the future. We envisage that gene therapy may be included in multiple novel therapies for hemophilia and benefit some hemophilia patients while novel non-factor therapies may benefit others, together fulfilling the unmet needs of all hemophilia patients.
基因治疗血友病已经研究了几十年,但直到 2011 年 Nathwani 等人在血友病 B 患者中实现了显著且可持续的因子 IX 增加,才取得突破。大约 11 年后,即 2022 年 8 月,第一种血友病 A 基因治疗产品获得欧洲委员会批准,血友病治疗进入了一个新时代。这篇综述并非关注最新进展,而是关注基因治疗的实际方面,旨在为未参与临床试验的治疗血友病患者的医生提供概述。目前的基因治疗状况,特别是针对即将临床应用的产品进行了审查和总结。目前,基因治疗可能存在的局限性包括针对载体的预先存在的中和抗体、肝脏健康、年龄和抑制剂状态。可能存在的安全问题包括输注反应、肝损伤以及免疫抑制剂或类固醇的不良反应。总之,一般来说,基因治疗是有效的,至少可以持续几年,但确切效果可能不可预测,需要对患者进行数月的密集监测。在选择的患者中谨慎实施,也可以认为是安全的。就目前形式而言,基因治疗不会替代所有血友病治疗方法。非因子治疗的进展也将极大地改善未来的血友病护理。我们设想基因治疗可能会被纳入多种血友病新疗法中,使一些血友病患者受益,而新的非因子疗法可能会使其他患者受益,共同满足所有血友病患者的未满足需求。