Risdiplam was associated with early improvements in upper-limb function maintained for 2–3 years, no loss of motor function, and no initiation of ventilation in adults with 5q-SMA.
Observational (n=59)
Yes
Does risdiplam stabilize or improve motor and respiratory function in adults with 5q-SMA?
In advanced adult SMA patients, risdiplam was associated with sustained upper-limb improvement, overall motor stability over 3 years, and a favourable respiratory trajectory without the need for new ventilation.
Effect estimate: RULM increased by 0.02 points per month (p=0.079), HFMSE increased by 0.05 points per month (p=0.222)
Real-world evidence about risdiplam therapy in adults with 5q spinal muscular atrophy (SMA) remains limited to outcomes in small cohorts, heterogeneous endpoints, and a short follow-up. We collected data of 59 adults with genetically confirmed 5q-SMA treated with risdiplam and analysed RULM, HFMSE, FVC % predicted, and ventilation status at baseline and at Month 6, 12, 24, and up to 36. The cohort comprised 59 adults (median age 28.5 years, range 17.0-59.2; 57.6% type 2, 33.9% type 3, and 8.5% type 1; 90.6% wheelchair users). During the follow-up period no patient lost motor function. RULM improved during the first 6 months and remained stable through 24-36 months. Over the follow-up, HFMSE showed a non-significant mean monthly increase of 0.05 points (P = 0.222), and RULM increased by 0.02 points per month (P = 0.079). No patient initiated ventilation during follow-up and forced vital capacity remained stable. In our adult population, including Type 1 survivors, risdiplam was associated with sustained upper-limb improvement, overall motor stability over 3 years, and a favourable respiratory trajectory without ventilation. Our findings indicate that stabilisation is a clinically meaningful target in advanced adult SMA patients.
Parmová et al. (2026) conducted an observational in Adults with genetically confirmed 5q spinal muscular atrophy (SMA) Types 1, 2, or 3, mostly wheelchair-bound, median age 28.5 years (n=59). risdiplam was evaluated on Change in motor function assessed by Revised Upper Limb Module (RULM), Hammersmith Functional Motor Scale - Expanded (HFMSE), forced vital capacity (FVC % predicted), and ventilation status over 36 months (RULM increased by 0.02 points per month (p=0.079), HFMSE increased by 0.05 points per month (p=0.222)). Risdiplam was associated with early improvements in upper-limb function maintained for 2–3 years, no loss of motor function, and no initiation of ventilation in adults with 5q-SMA.