Spinal muscular atrophy (SMA) is a rare neuromuscular condition. It is genetic and often leads to muscle weakness and wasting. Risdiplam is often used to manage adult and pediatric cases of SMA.
In a single-center study in the journal Acta Myologica, Elia Cesarone, of University of Campania Luigi Vanvitelli in Naples, Italy, and colleagues set out to evaluate patients with SMA who were being treated with risdiplam. In doing so, the researchers monitored the cohort’s motor function.
The researchers evaluated 12 patients over 24 months. Of these patients, five patients with SMA type 3a, four patients with SMA type 3b, and three patients with SMA type 3. Mean age was 45.5 years. Three patients in the cohort could walk, while eight patients were able to sit on their own without assistance.
The study team documented each patient’s Hammersmith Functional Motor Scale Expanded (HFMSE) score, Revised Upper Limb Module (RULM) score, and six-minute walking test (6MWT) results at baseline and at 24-month follow-up.
The findings indicated that 50% of the cohort had improved their HFMSE scores from baseline to the 2-year follow-up. More specifically, the data show that 41.7% of the group were the same, and 8.3% had some clinical worsening.
Similar outcomes were reported for the RULM scores. Half of the group had better RULM scores than at baseline, with 8.3% of the patients doing somewhat worse clinically and 41.7% of them staying consistently stable.
Data from the 6MWT also indicated that patients in the walker group were able to walk 198.7 m at baseline and 232.7 m at 24 months follow up.
The results showed that headache and gastrointestinal problems were the most frequently reported adverse events.
“Our study confirms that risdiplam is well tolerated. Half of the patients improved after risdiplam initiation and about 42% remained stable. Most patients stated to be satisfied with the medication. Longitudinal studies are needed to better understand the long-term effects of risdiplam in adult SMA,” the investigators concluded.