2026 American Academy of Neurology Abstract Website

Carol Jean Guittari¹, Evan Davies², C. Simone Sutherland², Ksenija Gorni³, Susan Edwards⁴, Maya Kjærgaard⁵, Anadi Mahajan⁶, Digant Gupta⁶, Mudasir Khan⁶, Sandyha Kumari⁶, Eleftherios Sideris²
¹PDMA Neuroscience and Rare Disease, Genentech Inc, CA, USA, ²Global Access, F. Hoffmann-La Roche Ltd, Basel, Switzerland, ³PDMA Neuroscience and Rare Disease, F. Hoffmann-La Roche Ltd, Basel, Switzerland, ⁴Pharma Development, Data Sciences, F. Hoffmann-La Roche Ltd, Basel, Switzerland, ⁵Roche Pharmaceuticals AS, Copenhagen, Denmark, ⁶Bridge Medical Consulting Ltd, London, UK

Objective:

To review real-world (RW) motor function outcomes in individuals with Types 2 and 3 SMA treated with risdiplam.

Background:

Risdiplam (EVRYSDI®) is approved for the treatment of SMA. Efficacy data are available in Types 2 and 3 SMA from the SUNFISH (NCT02908685; 2–25 years) and JEWELFISH (NCT03032172; 1–60 years) clinical trials. RW evidence of risdiplam is limited but growing.

Design/Methods:

A systematic literature review (SLR) evaluated RW outcomes in individuals with SMA treated with risdiplam. Embase, MEDLINE, and Evidence-Based Medicine Reviews were searched from database inception to October 30, 2024. Overall, 42 RW studies were identified reporting a wide range of motor function measures. A feasibility analysis determined that a meta-analysis of Revised Upper Limb Module (RULM) and Hammersmith Functional Motor Scale – Expanded (HFMSE) outcomes was feasible using SLR data but further analysis of 32-item Motor Function Measure and the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders was not recommended due to low study number (n=2 studies each). Twelve studies reported RULM and/or HFMSE outcomes in Types 2 and 3 SMA. A targeted literature search performed in July 2025 identified three additional studies reporting RULM and HFMSE outcomes published after October 2024.

Results:

Of 15 observational studies (eight [53%] prospective, six [40%] retrospective, and one [7%] hybrid), 11 (74%) were single center, two (13%) were multicenter, and two (13%) did not report the study setting. Studies included a total of 344 patients with Types 2 and 3 SMA. Nine studies reported data for both the HFMSE and RULM, three reported data only for the HFMSE, and three reported data only for the RULM. Consequently, RULM and HFMSE were each reported in 12 studies. RULM and HFMSE outcomes will be reported in two meta-analyses.

Conclusions:

Findings will provide further insights into the RW effectiveness of risdiplam.