Efficacy and safety of Nusinersen among children with spinal muscular atrophy from North India: A prospective cohort study (NICE-SMA study).

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY European Journal of Paediatric Neurology Pub Date : 2024-12-14 DOI:10.1016/j.ejpn.2024.12.001

Abhishek Pandey, Renu Suthar, Titiksha Sirari, Manisha Malviya, Somya Saxena, Sandhya Yaddanapudi, Shobit Garg, Arushi G Saini, Jitendra K Sahu, Naveen Sankhyan

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Abstract

Background: Intra-thecal Nusinersen has been approved for the treatment of Spinal muscular atrophy (SMA). Limited data is available regarding the efficacy and safety of Nusinersen in children with SMA type 2 and 3 from North India.

Objective: To study the efficacy and safety of Nusinersen among children with SMA type 2 and 3 from North India compared to standard of care (SOC) over 12 months.

Methods: Children with a genetically confirmed diagnosis of SMA and ≥2 copies of the SMN2 gene were screened for enrolment in prospective study design. Revised Hammersmith score (RHS) and revised upper limb module (RULM) were assessed every three months. Compound muscle action potentials (CMAPs) at median and ulnar nerves and quality of life (QOL) were performed at baseline and 12 months. Intra-thecal procedure-related and treatment-emergent side effects in children receiving Nusinersen therapy were recorded. Outcome measures at 6 and 12 months were compared between the Nusinersen and SOC groups.

Results: Forty-two children with SMA, mean age of 85 ± 6 months, including 16 in the Nusinersen group and 26 in the SOC group, were enrolled. The mean RHS score in the Nusinersen group increased from the baseline of 35 ± 18 to 38.9 ± 19, and 39.9 ± 17 at 6 and 12 months (p value-0.001), in the SOC group increased from the baseline of 28.8 ± 15, to 29.6 ± 16, and 29.9 ± 17 at 6 and 12 months respectively (p value-0.35). The mean gain in the RHS score over 12 months in the Nusinersen group was significantly higher compared to the SOC group (p-value 0.02). RULM showed significant gain in the Nusinersen group compared to the SOC group over 12 months (p value 0.03). The median and ulnar nerve CMAPs, and QOL were similar in both the groups. A total of 119 intrathecal injections of Nusinersen were given. Most adverse events were mild and related to the intra-thecal procedure.

Conclusion: Intra-thecal Nusinersen therapy among children with late-onset SMA from North India over 12-month duration was associated with improvement in motor abilities as measured by RHS compared to SOC. Intra-thecal Nusinersen was safe and tolerated well.

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北印度脊髓性肌肉萎缩症儿童服用 Nusinersen 的疗效和安全性：前瞻性队列研究（NICE-SMA 研究）。

背景：鞘内注射用奴西那生已被批准用于治疗脊髓性肌萎缩症（SMA）。有关奴西那生在北印度 2 型和 3 型 SMA 患儿中的疗效和安全性的数据有限：研究印度北部 2 型和 3 型 SMA 患儿服用纽西奈森 12 个月后的疗效和安全性，并与标准护理（SOC）进行比较：方法：筛选经基因确诊为 SMA 且 SMN2 基因拷贝数≥2 的儿童，纳入前瞻性研究设计。每三个月评估一次修订版哈默史密斯评分（RHS）和修订版上肢模块（RULM）。在基线和12个月时对正中神经和尺神经的复合肌肉动作电位（CMAP）和生活质量（QOL）进行评估。记录了接受 Nusinersen 治疗的儿童鞘内手术相关副作用和治疗突发副作用。比较了Nusinersen组和SOC组在6个月和12个月时的结果：42名SMA患儿（平均年龄为85 ± 6个月）参加了此次研究，其中纽西奈森组16名，SOC组26名。Nusinersen组的平均RHS评分从基线（35±18）分提高到6个月和12个月时的（38.9±19）分和（39.9±17）分（P值-0.001），SOC组的平均RHS评分从基线（28.8±15）分提高到6个月和12个月时的（29.6±16）分和（29.9±17）分（P值-0.35）。与 SOC 组相比，Nusinersen 组在 12 个月内的 RHS 平均得分显著增加（p 值为 0.02）。与 SOC 组相比，Nusinersen 组在 12 个月内的 RULM 有明显增加（p 值 0.03）。两组患者的正中神经和尺神经CMAP以及QOL相似。共进行了 119 次 Nusinersen 鞘内注射。大多数不良反应较轻，且与鞘内注射过程有关：结论：与SOC相比，对北印度晚发型SMA患儿进行为期12个月的鞘内注射奴西那生治疗与通过RHS测量的运动能力改善有关。鞘内奴西那生安全且耐受性良好。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European Journal of Paediatric Neurology 医学-临床神经学

CiteScore

6.30

自引率

3.20%

发文量

115

审稿时长

81 days

期刊介绍： The European Journal of Paediatric Neurology is the Official Journal of the European Paediatric Neurology Society, successor to the long-established European Federation of Child Neurology Societies. Under the guidance of a prestigious International editorial board, this multi-disciplinary journal publishes exciting clinical and experimental research in this rapidly expanding field. High quality papers written by leading experts encompass all the major diseases including epilepsy, movement disorders, neuromuscular disorders, neurodegenerative disorders and intellectual disability. Other exciting highlights include articles on brain imaging and neonatal neurology, and the publication of regularly updated tables relating to the main groups of disorders.