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自体逆行性聋症的AAV基因疗法9:一个单臂试验
Jieyu Qi1,2,3,4, Liyan Zhang1, Ling Lu1,5
1Department of Otolaryngology Head and Neck Surgery, Zhongda Hospital, State Key Laboratory of Digital Medical Engineering, Jiangsu Provincial Key Laboratory of Critical Care Medicine, School of Life Sciences and Technology, School of Medicine, Advanced Institute for Life and Health, Southeast University, Nanjing, China.
Nature medicine
|July 2, 2025
概括
使用腺相关病毒 (AAV) -OTOF的基因治疗对于跨年龄组的先天性聋是安全有效的. 这项研究显示,在1.5至23.9岁的参与者中,听力显著改善,在5至8岁的儿童中获得最佳结果.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 遗传性聋症基因疗法在儿童中显示出有前途,但在老年人群中缺乏数据.
- 自体逆性聋9 (AR D9) 是遗传性听力损失的一个重要原因.
- 腺相关病毒 (AAV) -OTOF基因疗法提供了一个潜在的治疗途径.
研究的目的:
- 评估AAV-OTOF基因治疗在不同年龄段的先天性聋患者的安全性和耐受性.
- 评估AAV-OTOF基因治疗对听觉功能的疗效.
- 探索影响治疗结果的因素,包括年龄和听力学测量.
主要方法:
- 一个单臂试验涉及十名参与者 (年龄为1.5~23.9岁) 患有AR D9.
- 使用Anc80L65囊进行AAV-OTOF基因治疗.
- 主要终点:安全性和耐受性超过5年;次要终点:听觉功能评估 (纯色调平均值,听觉脑干反应).
主要成果:
- 治疗耐受性良好,大多数是轻微的不良事件 (例如,中性粒细胞百分比下降).
- 所有参与者都显示出明显的听力改善,纯音调平均从106dB提高到52dB.
- 在1个月内观察到快速的治疗效果;在5至8岁儿童中观察到最佳结果.
结论:
- AAV-OTOF基因疗法是安全的,并且在从幼儿时期到成年期内患有先天性聋的个体中耐受良好.
- 听力功能得到了显著的改善,这表明了广泛的年龄范围内的治疗潜力.
- 需要进一步的长期跟踪,以确认持续的安全性和有效性.
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