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与AIPL1相关的严重视网膜缩症儿童的基因疗法:一个开放式的,首次对人类进行的干预研究

Michel Michaelides¹, Yannik Laich², Sui Chien Wong³

¹NIHR Moorfields Biomedical Research Centre, London, UK; UCL Institute of Ophthalmology, University College London, London, UK.

Lancet (London, England)

|February 22, 2025

概括

针对AIPL1相关的视网膜缩症的基因治疗显著改善了幼儿视力和保留了视网膜结构. 早期介入的AIPL1基因补充显示出有前途的安全性和有效性结果.

科学领域:

眼科和遗传学
遗传性视网膜疾病的基因治疗
光受体功能的分子和细胞生物学

背景情况:

AIPL1基因突变导致严重的早期视网膜缩,导致视力迅速丧失.
目前的治疗方法有限,需要探索新的治疗策略.
基因补充疗法为恢复AIPL1功能提供了一个潜在的方法.

研究的目的:

评估早期基因补充疗法的安全性和有效性.
评估rAAV8.hRKp.AIPL1在视觉功能和视网膜结构上的作用.

主要方法:

这是一项非随机的单臂临床研究,涉及4名患有AIPL1突变的儿童.
在一个眼睛内注射复合腺相关病毒载体 (rAAV8.hRKp.AIPL1).
结果包括视觉敏度,功能视觉,视觉唤起潜力,视网膜结构 (OCT, fundus成像) 和安全性评估.

主要成果:

与干预前水平 (2. 7 logMAR) 相比,治疗眼睛的视力明显改善 (平均0. 9 logMAR).
未经治疗的眼睛在随访时表现出无法测量的视力敏度,突出显示了治疗效果.
在接受治疗的眼睛中,增强视觉皮层活动和更好地保存视网膜外侧结构和厚度;发现了一例囊性黄斑胀.

结论:

在患有与AIPL1相关的视网膜缩症的幼儿中,通过视网膜下给予rAAV8. hRKp.
这种疗法改善了视觉敏性和功能视力, 提供了对视网膜退化的保护.
这种基因治疗的早期干预似乎是安全和有效的,除了短暂的炎症之外没有报告的严重不良反应.

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