在挪威,用nusinersen治疗的1型脊柱肌肉缩,为期五年的随访
Merete Wik-Klokk1, Magnhild Rasmussen2, Kristin Ørstavik3
1Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway; Department of Children and Adolescents, Oslo University Hospital, Norway.
概括
对于脊髓肌肉缩 (SMA) 的努辛森治疗显示,挪威患者在五年内改善了运动功能. 然而,呼吸和营养支持需求并没有改善,这表明持续存在挑战.
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:
- 对5q脊柱肌缩 (SMA) 的新疗法正在改变疾病表型.
- 这些治疗方法的长期疗效仍然是一个关键问题.
- 这项研究重点关注了挪威SMA1型患者的5年随访,这些患者接受了nusinersen治疗.
研究的目的:
- 评估Nusinersen在SMA1型患者的长期疗效和安全性.
- 为了评估五年内运动功能,神经状况和生化标志物的变化.
- 确定影响SMA治疗患者运动结果的因素.
主要方法:
- 包括来自扩展访问计划的10名SMA型1患者.
- 标准化的评估包括CHOP INTEND,HINE-2,CMAP和CSF神经纤维光链 (cNfL) 分析.
- 数据是在62个月的随访期间收集的.
主要成果:
- 显著的运动功能的改善 (CHOP INTEND) 被观察到38个月,然后平稳.
- 最年轻的患者表现出最好的运动结果.
- CSF cNfL水平显著下降了18个月,与运动功能的得分负相关.
- 在CMAP,腹筋或呼吸功能方面没有发现显著改善.
结论:
- 努辛森在SMA1型患者中显示了持续的疗效和良好的安全性.
- 运动功能的改善在所有患者中是一致的,特别是在年轻人中.
- 持续的呼吸和营养支持需求凸显了当前治疗方法的局限性.
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