用托弗森长期治疗SOD1ALS:在17名患者的多中心体验中
Mario Sabatelli1,2, Federica Cerri3, Riccardo Zuccarino4
1NeMO Clinical Center-Rome. Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. mario.sabatelli@unicatt.it.
Journal of neurology
|June 3, 2024
概括
在SOD1-ALS患者的ALSFRS-R和MRC得分中,托弗森治疗显示出了统计学上显著的改善. 神经纤维光链水平下降,这表明在一些患者中可能存在疾病修饰作用.
科学领域:
- 神经学 神经学
- 神经退行性疾病 神经退行性疾病
- 遗传学 是一个遗传学.
背景情况:
- 肌缩侧面硬化症 (ALS) 是一种进展性神经退行性疾病.
- 超氧化脱酶1 (SOD1) 基因的突变与一组ALS病例有关.
- 托弗森是一种反感性寡核酸,向SOD1mRNA.
研究的目的:
- 在SOD1-ALS患者中评估与托弗森治疗相关的临床疗效和生物标志物变化.
- 评估托弗森对疾病进展标志物的影响.
主要方法:
- 在27名ALS-SOD1患者中进行了多中心观察性研究,这些患者接受了托弗森治疗.
- 使用ALSFRS-R,MRC尺度和强迫生命能力 (FVC) 的临床评估.
- 在治疗前和治疗期间测量脑脊液 (CSF) 和血清神经丝光链 (NFL).
主要成果:
- 在托弗森治疗期间,ALSFRS-R (p=0.023) 和MRC (p=0.007) 进展率的统计学上显著改善.
- 大多数患者的CSF和血清NFL水平明显下降.
- 在17名随访患者中,有9名患者表现出稳定或轻微改善;四名病情恶化.
结论:
- 托弗森治疗在减缓SOD1-ALS患者疾病进展方面显示出统计学上显著的益处.
- 降低的NFL水平表明托弗森的潜在疾病修饰作用.
- 托弗森可能是SOD1-ALS患者的一个子集的有益治疗选择.
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