Nusinersen Treatment in Adults with Spinal Muscular Atrophy

Abstract: Purpose To determine change in motor function after treatment with nusinersen in adults with spinal muscular atrophy (SMA) during the first two years of commercial availability. Recent Findings All forty-two adult SMA patients (mean age: 34 years, range 17-66) receiving nusinersen at PNCR sites were assessed for a mean of 12.5 months (range 3-24 months). Data collected prospectively generated a mean annual rate of change over time determined using linear mixed effects models. Motor and ventilatory measures showed positive changes distinct from the progressive decline expected in untreated adults. All participants tolerated nusinersen with normal surveillance labs and no significant adverse events. Summary Trends of improvement in functional motor, patient-reported, and ventilatory measures, suggested nusinersen benefit in adults with SMA, including the chronic, weaker phenotype. Longer duration and larger studies are needed to more firmly establish nusinersen efficacy in adults with SMA.