Nusinersen is effective in SMA 1 patients older than 7 months

This study, which is part of the Expanded Access Program (EAP; NCT02865109), evaluated the safety and clinical efficacy of nusinersen in 33 children (aged between 8.3 to 113.1 months) with spinal muscular atrophy type 1 (SMA1). Patients were evaluated before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32).

All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene.

Aragon-Gawinska K, Seferian AM, Daron A, et al. Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study. Neurology. 2018 Oct 2;91(14):e1312-e1318.