New results for risdiplam in spinal muscular atrophy

Spinal muscular atrophy type 1 is a severe, progressive neuromuscular disease with symptom onset before age 6 months. Without disease modifying therapy, infants usually die of respiratory failure before age 2 years. Previous results from the FIREFISH study, an open-label clinical trial of risdiplam in patients with type 1 or infantile onset spinal muscular atrophy, have indicated that oral risdiplam might be safe and efficacious when given over 12 months to children with this type of spinal muscular atrophy. In The Lancet Neurology, Riccardo Masson and colleagues 1 Masson R Mazurkiewicz-Bełdzińska M Rose K et al. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. Lancet Neurol. 2022; (published online Oct 13.)https://doi.org/10.1016/S1474-4422(22)00339-8 Summary Full Text Full Text PDF PubMed Scopus (1) Google Scholar report the results of secondary analyses from FIREFISH, including safety and efficacy data at 24 months. These analyses clearly show that patients continued to benefit from up to 24 months of treatment, with attainment of motor milestones not seen in untreated patients in natural history studies. Furthermore, the safety profile seen at 12 months was maintained at 24 months. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trialTreatment with risdiplam over 24 months resulted in continual improvements in motor function and achievement of developmental motor milestones. The FIREFISH open-label extension phase will provide additional evidence regarding long-term safety and efficacy of risdiplam. Full-Text PDF