一个现实世界的多中心流行病学研究,在捷克和斯洛伐克成年人脊髓肌缩治疗risdiplam
Olesja Parmova1,2, Krystof Prasil3,4, Lenka Mokra5
1Department of Neurology, University Hospital Brno, Jihlavska 20, 625 00, Brno, Czech Republic. parmova.olesja@fnbrno.cz.
Scientific reports
|February 5, 2026
概括
在患有5q脊柱肌缩 (SMA) 的成年人中,risdiplam治疗显示了持续的运动功能和呼吸系统稳定性超过三年. 这种现实世界的证据表明稳定是高级成人SMA患者的有意义的结果.
科学领域:
- 神经学 神经学
- 罕见疾病 罕见疾病
- 临床治疗学 临床治疗学
背景情况:
- 对成人5q脊柱肌肉缩 (SMA) 的RISDIPLAM实践数据有限.
- 现有的研究往往涉及小队列,各种终点和短的随访期.
研究的目的:
- 评估risdiplam在一组具有遗传确认5q-SMA的成年患者中的长期疗效和安全性.
- 在36个月的治疗中评估运动功能,呼吸状况和通风需求.
主要方法:
- 对59名接受RISDIPLAM治疗的5q-SMA成年患者进行了回顾性分析.
- 在基线和6个月,12个月,24个月,直到36个月收集的数据.
- 评估结果包括修订的上肢肌肉评分 (RULM),手持动力测量 (HFMSE),预测的强迫生命能力 (FVC) 百分比和通风状态.
主要成果:
- 在3年的随访期间,没有患者经历过运动功能的下降.
- RULM在6个月内出现了初步改善,随后持续稳定.
- HFMSE显示非显著的平均月度增长,RULM显示月度增长的趋势.
- 没有患者启动通风,强迫生命能力保持稳定.
结论:
- 包括1型幸存者在内的成年SMA患者的Risdiplam治疗与持续的上肢运动改善和整体运动稳定性有关.
- 治疗证明了有利的呼吸轨迹,保持稳定而不需要通风.
- 运动和呼吸功能的稳定是高级成人SMA患者临床上有意义的目标.
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