努辛森治疗脊柱肌肉缩I型与慢性呼吸衰竭:韩国的一项回顾性研究
Hui Jin Shin1, Ji-Hoon Na1, Hyunjoo Lee1
1Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
Yonsei medical journal
|November 22, 2023
概括
努辛森在治疗I型脊髓肌缩症 (SMA) 中证明了安全性和有效性,即使是在需要永久通风的慢性呼吸衰竭患者中也是如此. 治疗显示了运动功能得分和疾病改善的显著改善.
科学领域:
- 神经学 神经学
- 儿科 儿科 儿科
- 遗传学 遗传学 是一个
背景情况:
- 脊椎肌肉缩 (SMA) I型是一种严重的遗传神经肌肉疾病.
- 慢性呼吸衰竭是SMA I型的常见和严重并发症.
- 努辛森是一种已批准的SMA治疗方法,但其在特定患者亚组中的有效性需要进一步研究.
研究的目的:
- 评估Nusinersen在小儿SMA型I和慢性呼吸衰竭患者的疗效和安全性.
- 评估nusinersen对这种具有挑战性的患者群体的运动功能和疾病进展的影响.
主要方法:
- 七名SMA I型患者的回顾性评估,他们接受了Nusinersen治疗,接受了永久通风.
- 数据收集包括患者人口统计,临床特征和治疗持续时间.
- 用哈默斯密斯婴儿神经检查 (HINE-2) 和费城儿童医院神经肌肉疾病婴儿测试 (CHOP-INTEND) 评分来评估运动功能.
主要成果:
- 患者在7.3岁的平均年龄接受了努辛森,平均随访时间为46.2个月.
- 随着时间的推移,观察到CHOP-INTEND得分的显著改善,表明运动功能的增长.
- 在高比例的患者中,病情有所改善,在58个月的随访期内达到100%.
结论:
- 努辛森是一种安全有效的治疗SMA型I患者,包括那些慢性呼吸衰竭和永久通风.
- 在这个队列中,没有与努辛森治疗相关的显著不良事件.
- 这些发现支持在呼吸道受损的SMA I型的晚期阶段使用nusinersen.
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