基因替代疗法在Bietti晶状角膜缩症:一个开放标签,单臂,探索性试验试验
Jinyuan Wang1,2, Jinlu Zhang3, Shicheng Yu4
1Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, 100730, Beijing, China.
Signal transduction and targeted therapy
|April 23, 2024
概括
基因疗法对Bietti晶状角肌缩症有前途,在大多数患者中改善视力. 这项对rAAV2/8-hCYP4V2的首次人体试验表明了有利的安全性和显著的视力敏度增长.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 基因治疗 基因治疗
背景情况:
- 贝蒂晶状角质视网膜发育不良是一种遗传性视网膜疾病.
- CYP4V2基因的突变导致这种情况,导致失明.
- 目前,没有有效的治疗方法可用于这种变质症.
研究的目的:
- 评估基因疗法的安全性和有效性,用于治疗Bietti晶状角膜缩症.
- 评估一种编码人类CYP4V2蛋白的复合腺相关病毒血清型2/8载体 (rAAV2/8-hCYP4V2).
主要方法:
- 一个首次在人身上进行的,开放的,单臂的探索性临床试验 (NCT04722107).
- 12名参与者接受了rAAV2/8-hCYP4V2.2.的单次单边脑下注射.
- 随访时间从180天到365天不等.
主要成果:
- 77.8%的治疗眼睛在第180天 (p=0.021) 显示最佳校正视敏度 (BCVA) 得到改善.
- 80%的治疗眼睛在第365天显示BCVA增加.
- 大多数不良事件是轻度/中度和与程序或皮质类固醇相关的;没有观察到与治疗相关的严重不良事件.
结论:
- 基因疗法rAAV2/8-hCYP4V2具有良好的安全性.
- 在BCVA和功能性措施的视觉改善支持治疗的有效性.
- 对于Bietti晶状角膜缩症,rAAV2/8-hCYP4V2 (ZVS101e) 的持续发展是有必要的.
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