Informace o publikaci
A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam
| Autoři | |
|---|---|
| Rok publikování | 2026 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Scientific Reports |
| Fakulta / Pracoviště MU | |
| Citace | |
| www | https://www.nature.com/articles/s41598-026-37462-6 |
| Doi | https://doi.org/10.1038/s41598-026-37462-6 |
| Klíčová slova | Spinal muscular atrophy; Adults; Risdiplam; Real-world data |
| Popis | 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. |