在非症状的脊柱肌肉缩中使用Risdiplam
Richard S Finkel1, Laurent Servais2,3, Dmitry Vlodavets4
1Center for Experimental Neurotherapeutics, Department of Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, TN.
The New England journal of medicine
|August 13, 2025
概括
早期治疗脊柱肌缩 (SMA) 的婴儿的risdiplam显示出有前途的功能和生存益处. 这种口服拼接修饰剂可能会在临床症状出现之前改善结果,这需要进一步的研究.
科学领域:
- 儿科神经学 儿科神经学
- 遗传学和基因治疗
- 药物开发 药物开发
背景情况:
- 脊髓肌肉缩 (SMA) 是一种遗传的神经肌肉疾病.
- 里斯迪普拉姆是一种口服剪接修饰剂,已批准用于症状性SMA.
- 瑞西普拉姆在症状前的SMA的疗效和安全性尚未得到充分证实.
研究的目的:
- 在症状出现之前评估risdiplam在被遗传诊断为SMA的婴儿的安全性和有效性.
- 评估在症状前治疗的婴儿的功能结果和生存率.
主要方法:
- 一项涉及遗传证实SMA的婴儿 (出生至42天) 的开放性研究.
- 每日口服里斯迪普拉姆 (0.2毫克/公斤).
- 主要结局:12个月的婴儿有两个SMN2副本和特定的CMAP振幅,能够在没有支的情况下坐着.
主要成果:
- 经过12个月,81%的婴儿可以无人扶持地坐着,42%的婴儿可以独自行走.
- 在24个月后,所有接受治疗的婴儿都在没有永久通风或养支持的情况下存活下来.
- 在24个月的时间里,在7名婴儿中报告了9起轻度的与治疗相关的不良事件.
结论:
- 与自然病史数据相比,在患有SMA的婴儿中进行症状前的Risdiplam治疗似乎改善了功能和生存结果.
- 需要进行进一步的受控研究,随访时间更长,以确认疗效和安全性.
- 雨水鱼试验 (NCT03779334) 提供了SMA早期干预的初步证据.
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