Long-term impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study.

IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Journal of Neurology Pub Date : 2024-09-01 Epub Date: 2024-07-19 DOI:10.1007/s00415-024-12567-y
Ningning Wang, Ying Hu, Kexin Jiao, Nachuan Cheng, Jian Sun, JinXue Tang, Jie Song, Chong Sun, Tao Wang, Kai Wang, Kai Qiao, Jianying Xi, Chongbo Zhao, Liqiang Yu, Wenhua Zhu
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Abstract

Background: 5q spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease.

Objective: We aimed to assess the effects of nusinersen on motor function and electrophysiological parameters in adolescent and adult patients with 5q SMA.

Methods: Patients with genetically confirmed 5q SMA were eligible for inclusion, and clinical data were collected at baseline (V1), 63 days (V4), 180 days (V5), and 300 days (V6). The efficacy of nusinersen was monitored by encompassing clinical assessments, including the Revised Upper Limb Module (RULM), Hammersmith Functional Motor Scale Expanded (HFMSE), 6-Minute Walk Test (6MWT), and percent-predicted Forced Vital Capacity in sitting position (FVC%) and Compound Muscle Action Potential (CMAP) amplitude. The patients were divided into "sitter" and "walker" subgroups according to motor function status.

Results: 54 patients were screened, divided into "sitter" (N = 22) and "walker" (N = 32), with the mean age at baseline of 27.03 years (range 13-53 years). The HFMSE in the walker subgroup increased significantly from baseline to V4 (mean change +2.32-point, P = 0.004), V5 (+3.09, P = 0.004) and V6 (+4.21, P = 0.005). The patients in both the sitter and walker subgroup had no significant changes in mean RULM between V1 and the following time points. Significant increases in CMAP amplitudes were observed in both upper and lower limbs after treatment. Also, patients with RULM ≥ 36 points showed significant CMAP improvements. Our analysis predicted that patients with CMAP amplitudes of trapezius ≥ 1.76 mV were more likely to achieve significant motor function improvements.

Conclusions: Nusinersen effectively improves motor function and electrophysiological data in adolescent and adult patients with SMA. This is the first report on the CMAP amplitude changes in the trapezius after treatment in patients with SMA. The CMAP values effectively compensate for the ceiling effect observed in the RULM, suggesting that CMAP could serve as an additional biomarker for evaluating treatment efficacy.

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纽西奈森对青少年和成人脊髓性肌萎缩症运动和电生理结果的长期影响:一项多中心回顾性研究的启示。
背景:5q脊髓性肌萎缩症(SMA)是一种进行性常染色体隐性运动神经元疾病:我们旨在评估纽西那生对青少年和成年 5q SMA 患者运动功能和电生理参数的影响:收集基线(V1)、63 天(V4)、180 天(V5)和 300 天(V6)的临床数据。努西那生的疗效通过包括修订版上肢模块(RULM)、哈默史密斯功能性运动量表扩展版(HFMSE)、6 分钟步行测试(6MWT)、坐位时预测的强制生命容量百分比(FVC%)和复合肌肉动作电位(CMAP)振幅在内的临床评估进行监测。根据运动功能状态将患者分为 "坐位 "亚组和 "步行 "亚组:共筛选出 54 名患者,分为 "坐者"(22 人)和 "行者"(32 人),基线平均年龄为 27.03 岁(13-53 岁)。步行者亚组的 HFMSE 从基线到 V4(平均变化 +2.32 点,P = 0.004)、V5(+3.09,P = 0.004)和 V6(+4.21,P = 0.005)均显著增加。坐位亚组和步行亚组患者的平均 RULM 在 V1 和随后的时间点之间没有显著变化。治疗后,上肢和下肢的 CMAP 振幅均有明显增加。此外,RULM ≥ 36 点的患者的 CMAP 也有明显改善。我们的分析预测,斜方肌CMAP振幅≥1.76 mV的患者更有可能获得显著的运动功能改善:结论:Nusinersen 能有效改善青少年和成年 SMA 患者的运动功能和电生理数据。这是第一份关于 SMA 患者治疗后斜方肌 CMAP 振幅变化的报告。CMAP 值有效弥补了在 RULM 中观察到的天花板效应,表明 CMAP 可作为评估疗效的额外生物标志物。
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来源期刊
Journal of Neurology
Journal of Neurology 医学-临床神经学
CiteScore
10.00
自引率
5.00%
发文量
558
审稿时长
1 months
期刊介绍: The Journal of Neurology is an international peer-reviewed journal which provides a source for publishing original communications and reviews on clinical neurology covering the whole field. In addition, Letters to the Editors serve as a forum for clinical cases and the exchange of ideas which highlight important new findings. A section on Neurological progress serves to summarise the major findings in certain fields of neurology. Commentaries on new developments in clinical neuroscience, which may be commissioned or submitted, are published as editorials. Every neurologist interested in the current diagnosis and treatment of neurological disorders needs access to the information contained in this valuable journal.
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