Effectiveness and safety of Risdiplam for types 1–3 spinal muscular atrophy in a single center

Risdiplam has demonstrated efficacy in various types of 5q-spinal muscular atrophy (SMA) during clinical trials, yet real-world data remain limited. This study evaluated its effectiveness and safety in Chinese SMA children and explored influencing factors. This retrospective study included genetically confirmed SMA patients treated with risdiplam at Children’s Hospital of Fudan University from August 2021 to August 2024. We analyzed data on the age of onset, types, SMN2 copy number, treatment initiation age and duration, respiratory and feeding status, motor function and safety. A total of 12 SMA patients (4 type 1, 7 type 2, 1 type 3) were included, with a median age of 14.4 months (range: 1.7-161.7 months), was evaluated over a follow-up period of 8–18 months after starting risdiplam. Motor function improvements were well noted in 11 children, with Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores increasing by 1.73 points monthly. Notably, nine patients attained new World Health Organization motor milestones after an average of 9.8 months post-treatment. Subgroup analysis indicated that younger age and earlier intervention were associated with more pronounced clinical benefits. Adverse events, primarily respiratory infections were the most common adverse event but did not lead to deaths or treatment discontinuations, likely attributable to the underlying disease rather than risdiplam—were observed but did not result in treatment discontinuation or mortality. Risdiplam treatment is effective and safe in Chinese pediatric SMA patients, enhancing motor function and facilitating new milestones achievement. Early diagnosis and treatment are vital for maximizing benefits.