Lemska Anna, Ruminski Piotr, Szymarek Jakub, Studzinska Sylwia, Mazurkiewicz-Beldzinska Maria
Department of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.
Faculty of Chemistry, Nicolaus Copernicus University, 87-100 Torun, Poland.
Neurol Int. 2024 Oct 29;16(6):1266-1278. doi: 10.3390/neurolint16060096.
Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 () gene. SMA is classified into types 0 through 4 based on the age of symptom onset and the severity of motor function decline. Recent advances in SMA treatment, including nusinersen, onasemnogene abeparvovec, and risdiplam, have significantly improved the prognosis of SMA patients. This study evaluated the safety and efficacy of nusinersen in pediatric patients with SMA types 1, 2, and 3 in a real-world clinical setting.
This prospective observational single-center study assessed the treatment effects of nusinersen in 23 pediatric patients with genetically confirmed SMA over a 22-month observation period. All the participants received intrathecal loading doses of 12 mg of nusinersen on days 1, 14, 28, and 63, followed by maintenance doses every four months. Functional assessments were conducted using the CHOP-INTEND scale. Data were collected during routine patient visits, including clinical laboratory tests and vital sign parameters, and adverse events were recorded. The inclusion criteria were defined by the national reimbursement program for nusinersen treatment in Poland.
Initially, 37 patients ranging from 1 month old to 18 years old were included, but 23 were ultimately observed due to changes in treatment regimens or assessment scales. The patients showed significantly improved CHOP-INTEND scores over the 22-month period. At 6 months, the average increase was 4.2 points, continuing to 17.8 points at 22 months. By the end of the study, 100% of patients showed either stabilization or improvement, with significant clinical improvements observed in several patients. Nusinersen was generally well-tolerated, with post-lumbar puncture headache and lower back pain being the most common adverse events.
Nusinersen treatment significantly enhances motor function in pediatric patients with SMA types 1, 2, and 3. This study demonstrates the importance of early and sustained treatment, with most patients showing the continuous improvement or stabilization of motor function. These findings support the use of nusinersen as an effective therapy for SMA; however, further research is needed to understand the long-term outcomes and optimize treatment strategies.
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，其特征是由于生存运动神经元1（SMN1）基因缺失导致进行性肌肉无力和萎缩。根据症状出现的年龄和运动功能下降的严重程度，SMA分为0至4型。SMA治疗的最新进展，包括诺西那生钠、onasemnogene abeparvovec和利司扑兰，显著改善了SMA患者的预后。本研究在真实世界临床环境中评估了诺西那生钠在1、2和3型小儿SMA患者中的安全性和疗效。
这项前瞻性观察性单中心研究在22个月的观察期内评估了诺西那生钠对23例基因确诊的小儿SMA患者的治疗效果。所有参与者在第1、14、28和63天接受鞘内注射12 mg诺西那生钠的负荷剂量，随后每四个月接受维持剂量。使用CHOP-INTEND量表进行功能评估。在患者常规就诊期间收集数据，包括临床实验室检查和生命体征参数，并记录不良事件。纳入标准由波兰诺西那生钠治疗的国家报销计划定义。
最初纳入了37例年龄从1个月到18岁的患者，但由于治疗方案或评估量表的变化，最终观察了23例。在22个月的时间里，患者的CHOP-INTEND评分显著改善。在6个月时，平均增加4.2分，在22个月时持续增加到17.8分。到研究结束时，100%的患者显示病情稳定或改善，数名患者有显著的临床改善。诺西那生钠总体耐受性良好，腰穿后头痛和下背痛是最常见的不良事件。
诺西那生钠治疗显著提高了1、2和3型小儿SMA患者的运动功能。本研究证明了早期和持续治疗的重要性，大多数患者的运动功能持续改善或稳定。这些发现支持将诺西那生钠用作SMA的有效治疗方法；然而，需要进一步研究以了解长期结果并优化治疗策略。
