To review real-world (RW) outcomes in adults with SMA treated with risdiplam.

SMA is characterized by progressive muscle weakness and declining motor function. The heterogeneous adult SMA population has wide-ranging functional abilities. Although motor function is the primary outcome in clinical trials, many other factors affect daily living in adults with SMA.

Risdiplam efficacy has been demonstrated in adults in the SUNFISH (NCT02908685; 2–25 years) and JEWELFISH (NCT03032172; 1–60 years) clinical trials. However, RW evidence of risdiplam’s effectiveness is limited.

This systematic literature review aims to provide a holistic review of RW risdiplam outcomes in adults with SMA.

Online databases (Embase, MEDLINE, and Evidence-Based Medicine Reviews) were searched from database inception to October 30, 2024 to identify studies reporting RW outcomes in adults with SMA treated with risdiplam.

Overall, 42 RW risdiplam publications were identified, of which 18 reported data in over 390 adults with SMA. Of 18 observational studies, 10 reported data from individuals with Type 2 and/or 3 SMA, three investigated mixed-type populations, and five did not report SMA type. In studies with relevant data at baseline, the vast majority of individuals (100/109, 92%, seven studies) were non-ambulant, and more than half (71/123, 58%, six studies) had scoliosis or had undergone spinal surgery.

Fifteen studies reported longitudinal data for up to 24 months; all studies demonstrated improvement or stabilization of motor function in adults treated with risdiplam. Eleven of 15 studies included non-motor function outcomes and reported improvements in bulbar function, speech and voice, and quality of life measures with risdiplam. This poster will present the results of these non-motor function outcomes.

Results support the potential for risdiplam RW effectiveness in maintaining or improving motor and non-motor function and quality of life in adults with SMA. Long-term studies are needed to provide further insights.