Two-year Risdiplam treatment in adults with spinal muscular atrophy: improvements in motor and respiratory function, quality of life and fatigue.

Disease-modifying treatments in spinal muscular atrophy (SMA) are emerging. Risdiplam (Evrysdi®) has shown promise in improving motor function in patients with SMA. However, long-term efficacy and safety data in adult SMA patients are limited. Eighteen treatment-naive adult patients with SMA types 2, 3, or 4 received Risdiplam for 24 months. Strength and motor function were assessed through manual muscle testing, hand grip strength, key and tip pinch strength, Motor Function Measure-32 (MFM-32), Revised Upper Limb Module (RULM), Functional Oral Intake Scale, and Neuromuscular Disease Swallowing Status Scale. Patient Reported Outcome Measures included SF-36 quality of life scale, Fatigue Severity Scale, Sydney Swallow Questionnaire, and SMA Independence Scale. Forced Vital Capacity (FVC) and Peak Expiratory Flow (PEF) were assessed over 24 months and analysed retrospectively. Motor function significantly improved, with MFM-32 scores increasing by 2.3 % and 2.6 % at 12 and 24 months (p < 0.01). RULM scores improved significantly only after 12 months (1 point; p = 0.02). FVC remained stable in Risdiplam-treated adult patients, deviating from the anticipated decline calculated from their retrospective data. PEF showed significant improvement after 24 months (6.9 %; p = 0.03). Improvements in quality of life were observed, along with a reduction in fatigue and dysphagia. The safety profile was favorable.