Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy

作者：Wenjing Li, Qin Zhang, Hongjun Miao, Jin Xu · 发表于：Orphanet Journal of Rare Diseases · 年份：2025 · DOI：10.1186/s13023-025-03603-9 · 被引用次数：6 · 研究领域：Neurogenetic and Muscular Disorders Research、Amyotrophic Lateral Sclerosis Research、Muscle Physiology and Disorders

BACKGROUND: Spinal muscular atrophy (SMA) is a rare neurodegenerative disease that significantly affects multiple systems in children. Nusinersen, the first approved treatment for SMA, enhances SMN protein production by targeting the RNA splicing site of the SMN2 gene, thus improving motor function. However, the high cost of nusinersen treatment raises concerns about its economic feasibility. METHODS: This study retrospectively analyzed clinical data of 42 pediatric SMA patients treated with nusinersen from January 2022 to October 2024 at our hospital. We assessed the efficacy, safety, and economic impact of nusinersen in different SMA types. Motor function was evaluated using the CHOP-INTEND, HINE-2, HFMSE, and RULM scales. Safety was assessed based on adverse reactions and events, and economic evaluation considered total treatment costs and average cost per injection. RESULTS: Nusinersen significantly improved motor function in SMA patients, especially in type I patients, who showed notable increases in CHOP-INTEND and HINE-2 scores. The RULM score had the highest increase among type II patients, while improvements were relatively lower in type III patients. Regarding safety, the incidence of adverse events was 40.48%, with fever being the most common adverse reaction, occurring in 36.36% of cases. Economic analysis indicated that the total treatment cost was highest for type III patients, though the cost differences among types were not statistically significant (P > 0.05)...