在初始治疗后切换到onasemnogene abeparvovec的现实世界经验 nusinersen或risdiplam
Magdalena Chrościńska-Krawczyk1, Ilona Kozioł1, Ewa Zienkiewicz1
1Department of Child Neurology, University Children's Hospital, Medical University of Lublin, 6 Gębali St., 20-093 Lublin, Poland.
Neuromuscular disorders : NMD
|August 13, 2025
概括
在其他脊髓肌肉缩疗法后切换到onasemnogene abeparvovec显著改善了儿童的运动功能. 在这项研究中,这种治疗表明了临床上有意义的益处和可管理的安全性.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 脊髓肌肉缩 (SMA) 是一种进展性神经退行性疾病,影响运动神经元和肌肉力量.
- 目前对SMA的治疗包括nusinersen和risdiplam,它们修改了拼接.
- 评估替代治疗策略对于管理SMA进展至关重要.
研究的目的:
- 评估小儿麻风性肌痛患者在转换为松风性肌痛患者的运动和安全结果.
- 为了确定先前用nusinersen或risdiplam治疗后的onasemnogene abeparvovec的疗效.
- 评估onasemnogene abeparvovec在这个患者群体中的安全性.
主要方法:
- 对40名患有SMA的儿童进行了回顾性单中心研究.
- 在初始的努西森森或RISDIPLAM治疗后,患者接受了纳森基尼阿贝帕尔沃维克.
- 在基线和输液后6个月使用CHOP-INTEND和HFMSE评估运动功能.
主要成果:
- 6个月后CHOP-INTEND和HFMSE中位数的显著增加onasemnogene abeparvovec输液 (p <0.0001).
- 临床上有意义的运动改善观察到67.5%在1个月和95.0%在6个月.
- 过渡性不良事件包括发烧,吐和肝酶升高;32.5%的患者经历了血栓缩,没有严重的并发症.
结论:
- 在剪接修改疗法后切换到onasemnogene abeparvovec,在儿科SMA中提供了相当大的运动功能的好处.
- 治疗表明运动技能的临床上有意义的改善.
- 在以前用其他疗法治疗的SMA儿童中,Onasemnogene abeparvovec表现出可管理的安全性.
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