Thornburg Courtney D
Division of Hematology/Oncology, Rady Children's Hospital San Diego, 3020 Children's Way, MC 5035, San Diego, CA 92123, USA. Department of Pediatrics, UC San Diego School of Medicine, La Jolla, CA, USA.
Ther Adv Rare Dis. 2021 Nov 24;2:26330040211058896. doi: 10.1177/26330040211058896. eCollection 2021 Jan-Dec.
The treatment landscape for hemophilia has been rapidly changing with introduction of novel therapies. Gene therapy for hemophilia is a promising therapeutic option for sustained endogenous factor production to mitigate the need for prophylactic treatment to prevent spontaneous and traumatic bleeding. Etranacogene dezaparvovec is an investigational factor IX (FIX) gene transfer product that utilizes the adeno-associated virus (AAV) 5 vector with a liver-specific promoter and a hyperactive FIX transgene. Here, the development of etranacogene dezaparvovec and available efficacy and safety data from clinical trials are reviewed. Overall, etranacogene dezaparvovec provides sustained FIX expression for more than 2 years and allows for a bleed and infusion-free life in the majority of patients. Safety, efficacy, and quality-of-life data will inform shared decision-making for patients who are considering gene therapy. Long-term follow-up regarding duration of expression and safety are crucial.
随着新型疗法的引入，血友病的治疗格局正在迅速改变。血友病基因治疗是一种有前景的治疗选择，可实现内源性因子的持续产生，从而减少预防性治疗以预防自发性和创伤性出血的需求。依特那考基因德扎帕罗韦克是一种研究性的因子IX（FIX）基因转移产品，它利用具有肝脏特异性启动子和高活性FIX转基因的腺相关病毒（AAV）5载体。在此，对依特那考基因德扎帕罗韦克的研发以及临床试验中可用的疗效和安全性数据进行综述。总体而言，依特那考基因德扎帕罗韦克可提供超过2年的FIX持续表达，并使大多数患者能够过上无出血和无输注的生活。安全性、疗效和生活质量数据将为考虑基因治疗的患者的共同决策提供依据。关于表达持续时间和安全性的长期随访至关重要。
