美国食品药品监督管理局（FDA）已批准福泰制药的基因疗法Casgevy的适应症拓展，将可用患者年龄下限扩展至2岁及以上 [1]。这标志着Casgevy成为全球首个可用于低龄儿童的CRISPR基因编辑疗法 [1]。该药物通过靶向BCL11A基因的红细胞特异性增强子区域重启胎儿血红蛋白，无需引入外源基因序列，用于治疗镰状细胞病和输血依赖型β地中海贫血 [1]。
临床试验数据支持该批准决定。在CLIMB系列研究的12-35岁患者队列中，32名患者实现了连续12个月无需输血，占比约91.4% [1]。更低龄段的5-11岁儿童队列中，9名可评估患儿有8人达成12个月输血独立，有效比例接近89% [1]。患者中位无需输血时长达到20.1个月 [1]。FDA从提交相关材料到做出批准决定仅用时53天，该项目已纳入FDA局长国家优先凭证试点项目 [1]。
为进一步了解治疗的长期安全性，所有接受治疗的患者被邀请参与CLIMB-131长期随访研究，计划追踪长达15年 [1]。
Casgevy, a gene therapy developed by Vertex Pharmaceuticals, has received FDA approval to treat patients as young as 2 years old, marking the first CRISPR gene-editing therapy available for young children with blood disorders [1]. The therapy works by editing the BCL11A gene to reactivate fetal hemoglobin, addressing sickle cell disease (SCD) and transfusion-dependent beta-thalassemia (TDT) [1].
Clinical trial data demonstrated strong efficacy across different age groups: among 32 patients aged 12 to 35 years in the CLIMB trial series, all achieved at least 12 consecutive months without needing blood transfusions, representing a 91.4 percent transfusion independence rate [1]. In the younger cohort of children aged 5 to 11 years, 8 out of 9 evaluable patients achieved 12-month transfusion independence, corresponding to an effectiveness rate of approximately 89 percent [1]. The median duration without requiring transfusions reached 20.1 months across evaluated patients [1].
The FDA expedited its review process, approving Casgevy in just 53 days after submission, incorporating the application into the FDA Commissioner's Breakthrough Therapy Designation pilot program [1]. The therapy employs a base-editing approach that targets the red blood cell-specific enhancer region of the BCL11A gene without introducing foreign genetic sequences [1]. All patients who have received the treatment have been invited to participate in the CLIMB-131 long-term follow-up study, which is designed to track patients for up to 15 years [1].
