Adult SMA and innovative therapies

We investigated the transcriptomic changes of Risdiplam in blood samples of adult SMA. Patients were recruited at the Neurological Center of the University of Bari; peripheral blood samples were taken at T0 in all subjects (naïve from therapy) and after 12 months of Risdiplam. RNA-seq followed by bioinformatics/statistics analysis were performed. The overall results showed that in adult SMA subjects treated with Risdiplam, the increase of SMN transcripts was verified thus sustaining its therapeutic efficiency. Furthermore, in naïve patients we observed several significative genetic differences by SMA-types, which may be of interest in the clinical prospective.