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. (Fri,) conducted a 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.