脊柱肌肉缩的治疗演变:来自SMArtCARE注册表的见解
Cornelia Voigt-Müller1, Michelle Pfaffenlehner2,3, Günther Bernert4
1Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, D-79106 Freiburg, Germany.
Brain : a journal of neurology
|December 23, 2025
概括
对5q脊柱肌肉缩 (SMA) 的现实世界治疗表明,大多数患者继续接受他们的第一个疾病修饰治疗 (DMT). 在SMA患者的治疗切换通常发生在新的DMT批准后,并且与运动功能变化无关.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 药理学 药理学是指药理学的学科.
背景情况:
- 在5q脊柱肌缩 (SMA) 治疗方面,通过引入三种疾病修饰疗法 (DMT) 改变了5q脊柱肌缩 (SMA) 治疗的格局:nusinersen,onasemnogene abeparvovec (OA) 和risdiplam.
- 了解现实世界治疗模式对于优化患者护理和资源配置至关重要.
研究的目的:
- 分析DMT启动和切换在SMA患者的大队伍中的序列和时间.
- 调查影响SMA治疗决策的临床和遗传因素.
主要方法:
- 利用了来自SMArtCARE注册表的数据,包括德国,奥地利和瑞士84个中心的2,140名患者.
- 根据治疗方案对患者进行分类:那些继续使用第一个DMT的人与那些转换DMT的人.
- 评估了诸如治疗开始时的年龄,SMN2拷贝数,运动功能和需要支持性护理等因素.
主要成果:
- 努辛森是最常见的初始DMT (60.5%),其次是Risdiplam (24.0%) 和OA (11.4%).
- 大多数患者 (63.8%) 仍在使用他们的第一个DMT,大多数切换发生在新DMT批准后不久.
- 切换DMT的患者在第一和第二次治疗之间往往没有显著改变运动里程碑状态.
结论:
- 这项研究提供了对不同患者群体中真实世界SMA治疗模式的全面分析.
- 在SMA中转换治疗似乎受到多种因素的影响,并且不仅仅是由观察到的运动功能的有效性驱动的.
- 这些发现强调了不断发展的治疗策略和管理SMA所涉及的复杂决策过程.
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