Changes in serum parameters during nusinersen treatment in children with spinal muscular atrophy

Abstract

Background Spinal muscular atrophy (SMA) is characterized by motor neuron degeneration and progressive muscle atrophy and weakness. Clinical trials and real-world studies have demonstrated significant and clinically meaningful benefits of Nusinersen in a broad range of symptomatic and presymptomatic patients. The parameters in serum to monitor the safety and effect of Nusinersen was rarely reported among pediatrics patients. This retrospective study aimed to characterize the parameters in serum in children with SMA during Nusinersen therapy. Results A total of 46 children with SMA at baseline were included. Baseline creatinine (Crn) had significant difference between SMA types while CK at baseline had no statistical difference. Serum level of Crn and CK at baseline had statistical difference between SMA with different motor function. Statistical difference in Crn was observed between patients among baseline, 6 months, and 18 months. 25-(OH) D3 is significantly higher in the patients without scoliosis than those with scoliosis(P＝0.045). Conclusions Crn and Vitamin D can be possible biomarkers to monitor the severity of SMA disease and progression.