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在临床实践中从Nusinersen过渡到Risdiplam治疗脊柱肌肉缩:一个单一中心的经验

Can Ebru Bekircan-Kurt¹, Sharmada Subramanian², Shannon Chagat³

¹Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey.

|January 2, 2025

概括

从努西森森转移到瑞斯迪普拉姆的脊髓肌肉缩 (SMA) 过渡患者表现出稳定的运动功能和有利的安全概况. 利斯迪普拉姆改善了咳的峰值流量,这表明对SMA患者的呼吸功能有潜在的益处.

科学领域:

神经学神经学
儿科医学儿科医学
药理学药理学是指药理学的学科.

背景情况:

脊髓肌肉缩 (SMA) 是一种罕见的遗传疾病,影响运动神经元.
努辛森和risdiplam是FDA批准的SMA治疗方法,但直接比较的疗效数据是有限的.
观察性研究对于评估治疗过渡和长期结果至关重要.

研究的目的:

评估SMA患者从nusinersen转换为risdiplam的安全性和有效性.
在切换治疗后评估运动,肺和腹筋功能的变化.
为了比较用nusinersen治疗的患者和那些过渡到risdiplam的患者之间的结果.

主要方法:

全国儿童医院的回顾性研究.
包括44名SMA患者 (1,2,3型) 之前接受过nusinersen治疗,然后转换为risdiplam.
在治疗开始前和之后 (2年随访) 评估运动,肺和腹筋功能.

主要成果:

用nusinersen改善了运动功能,在切换到risdiplam后保持稳定.
在两组治疗中都需要非侵入性通风 (NIV).
在risdiplam组中,咳峰值流量显著改善;在risdiplam组中,口服养能力有所改善.
住院率在各组之间是相似的.

结论:

从nusinersen转换为risdiplam似乎是安全的,保持运动功能的稳定性.
虽然努辛森的初步效果有所改善,但瑞斯迪普拉姆维持了功能,并且改善了咳和食.
脊髓融合手术影响了结果,但在RISDIPLAM小组中明显程度略低.

关键词:

在CHOP中使用CHOP.在HFMSE中使用.这就是NIV NIV.没有任何的 nusinersenersen.里斯迪普拉姆的风险脊柱肌肉缩脊柱肌肉缩脊柱肌肉缩

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