This is a proof of concept trial to investigate the impact of FDA approved therapies for adults with SMA on NMJ transmission. The study will enroll genetically confirmed adults with 5 q SMA with electrodiagnostic evidence of NMJ defects despite at least ten months of nusinersen treatment to evaluate NMJ transmission following 12 months of treatment with Risidplam. Dosing will be weight- based as approved by the FDA (US Prescribing Information)
This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will receive treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. All subjects will be evaluated at the baseline visit to determine eligibility. Eligible subjects will be reevaluated after completing six and 12 months of Risdiplam treatment. The study is intending to enroll ten adults with SMA patients with electrodiagnostic evidence of NMJ transmission defect on repetitive nerve stimulation despite previous treatment with Nusinersen.