Pandey Abhishek, Suthar Renu, Sirari Titiksha, Malviya Manisha, Saxena Somya, Yaddanapudi Sandhya, Garg Shobit, Saini Arushi G, Sahu Jitendra K, Sankhyan Naveen
Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Eur J Paediatr Neurol. 2025 Jan;54:42-49. doi: 10.1016/j.ejpn.2024.12.001. Epub 2024 Dec 14.
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.
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.
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.
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.
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.
鞘内注射诺西那生已被批准用于治疗脊髓性肌萎缩症（SMA）。关于诺西那生在印度北部2型和3型SMA儿童中的疗效和安全性的数据有限。
研究与标准治疗（SOC）相比，诺西那生在印度北部2型和3型SMA儿童中12个月的疗效和安全性。
对基因确诊为SMA且SMN2基因拷贝数≥2的儿童进行筛查，纳入前瞻性研究设计。每三个月评估修订的哈默史密斯评分（RHS）和修订的上肢模块（RULM）。在基线和12个月时检测正中神经和尺神经的复合肌肉动作电位（CMAP）以及生活质量（QOL）。记录接受诺西那生治疗的儿童鞘内注射相关和治疗中出现的副作用。比较诺西那生组和SOC组6个月和12个月时的结局指标。
共纳入42例SMA儿童，平均年龄85±6个月，其中诺西那生组16例，SOC组26例。诺西那生组的平均RHS评分从基线的35±18分别增加到6个月时的38.9±19和12个月时的39.9±17（p值为0.001），SOC组从基线的28.8±15分别增加到6个月时的29.6±16和12个月时的29.9±17（p值为0.35）。诺西那生组12个月内RHS评分的平均增加幅度显著高于SOC组（p值为0.02）。与SOC组相比，诺西那生组在12个月内RULM有显著增加（p值为0.03）。两组的正中神经和尺神经CMAP以及QOL相似。共进行了119次鞘内注射诺西那生。大多数不良事件为轻度，且与鞘内注射操作有关。
与SOC相比，印度北部晚发性SMA儿童鞘内注射诺西那生治疗12个月与RHS测量的运动能力改善相关。鞘内注射诺西那生安全且耐受性良好。
