1型脊柱肌肉缩队列在疾病修饰疗法之前和之后
Brenda Klemm Arci Mattos de Freitas Alves1, Alexandra Prufer de Queiroz Campos Araujo2, Flávia Nardes Dos Santos2
1Universidade Federal do Rio de Janeiro, Pós-graduação em Saúde Materno-infantil, Rio de Janeiro RJ, Brazil.
脊椎肌肉缩 (SMA) 1型的疾病修饰疗法显示改善了运动功能和稳定了呼吸/气囊功能. 较早开始治疗可能会导致儿童SMA患者的治疗结果更好.
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:
- 脊柱肌肉缩 (SMA-5q) 是一种进展性神经退行性疾病,影响运动神经元.
- 1型SMA在生命的前六个月内呈现,其特点是肌肉缩,低血压和软弱.
- 经批准的疾病修饰疗法在早期干预的情况下提供了更好的结果.
研究的目的:
- 评估SMA1型疾病修饰疗法的安全性和临床疗效.
- 为了比较单独使用努西森森治疗的患者和转换为奥纳森基尼阿贝帕罗维克 (OA) 治疗的患者的结局.
- 评估对运动,呼吸和腹筋功能的影响.
主要方法:
- 在18个月的时间里,一个由10名SMA型1患者组成的队列被分为两组.
- 第1组仅接受了努西森森;第2组从努西森森转换为OA.
- 评估包括CHOP-INTEND尺度,发展里程碑,通风需求和吞功能.
主要成果:
- 70%的患者实现了运动里程碑;第二组显示了较大的CHOP-INTEND得分增加 (33分) 与第一组 (10.2分).
- 90%的患者保持了稳定的呼吸功能;30%的患者获得了口服养.
- 没有报告严重的不良事件或死亡.
结论:
- 两种治疗策略都显示了运动功能的改善和呼吸和腹筋功能的稳定.
- 较早启动疾病修饰疗法,特别是OA,可能与增强的运动收益相关.
- 该研究提供了关于儿童患者SMA治疗的安全性和疗效的真实数据.
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