A scoping review of treatment modalities for spinal muscular atrophy in pediatric populations

Abstract Background Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder leading to progressive motor neuron degeneration in children. The advent of disease-modifying therapies (DMTs) has changed treatment standards, necessitating mapping of available evidence. Objective To systematically map therapy modalities for pediatric SMA (January 2020– August 2025), summarize research characteristics, therapeutic strategies, and identify gaps in the literature. Methods A scoping review was performed according to PRISMA-ScR criteria. PubMed/MEDLINE, Cochrane, Scopus, and Web of Science were screened for peer-reviewed articles describing treatment options for spinal muscular atrophy in children ≤ 18 years. Eligible studies included randomised controlled trials, observational studies, case reports/series, and reviews. Data were independently analysed by two reviewers and summarised descriptively. Results 74 studies from thirty-nine countries had been incorporated, with the largest numbers of articles taking place in 2024. The majority of contributions were conducted in Europe (54.04%), Asia (32.4%), and North America (20.27%). SMA type 1 represented the majority of studies at 33.8%. The most frequently assessed disease-modifying treatments were nusinersen (70.3%), onasemnogene abeparvovec (36.5%), and risdiplam (21.6%). Combination therapies were reported in 5.4% of studies, whereas multidisciplinary rehabilitation, pharmaceutical adjuvants, and experimental interventions were less frequently noted. Motor function was the primary outcome measure (81.1% of studies), with pulmonary function (28.4%), safety (31.1%), and survival (4.0%) also assessed. Quality-of-life studies were notably scarce (1.4%). Conclusions DMTs have consistently improved motor function, especially in presymptomatic patients, but there is still not enough information about long-term effects, quality of life, and supportive care strategies. Future studies should use standardized outcome measures, be focused on multidisciplinary approaches, and encourage more global participation to optimize outcomes for all children with SMA.