Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in western China

Introduction: The treatment of children with spinal muscular atrophy (SMA) includes disease-modifying drugs such as nusinersen. Our aim was to summarize our experience regarding the efficacy and safety of nusinersen and nutritional status in children with SMA in western China. Methods: In this retrospective study, data from all patients with a genetically confirmed diagnosis of SMA before 18 years of age who were treated with nusinersen were collected before initiation of treatment and after 2 months of treatment. We assessed the motor function of patients with SMA using standardized scales, nutritional status and side effects of nusinersen. Results: 46 patients aged < 18 years were enrolled in this study. The patients had 2 to 3 copies of the survival motor neuron 2(SMN2) gene. After 2 months of treatment, motor function of SMA type 1, 2, and 3 improved. Children with SMA have nutritional disorders, and SMA1 patients are the most malnourished. No serious adverse effects were observed. Conclusion: Our study included patients with SMA1, SMA2, and SMA3. Motor function of all pediatric SMA patients improved after 2 months of loading period nusinersen treatment. Children with SMA, especially SMA1, are prone to malnutrition; thus, nutritional management of SMA patients should be enhanced. Our study also suggests that nusinersen is safe to use, as no major side effects requiring treatment discontinuation have been reported.