BRIEF RESEARCH REPORT article
Front. Neurol.
Sec. Neuromuscular Disorders and Peripheral Neuropathies
Assessment of Safety and Efficacy of Risdiplam Treatment in Adults with Spinal Muscular Atrophy
Provisionally accepted
Andrea Jana Jaworek1*
Kathryn Jira1
Matti Allen2
Songzhu Zhao3Kristina Kelly4Trevor Moravec5Marco Tellez1Sarah Heintzman1Jerold Reynolds1
Gary Brent Sterling1
Stephen J Kolb1William David Arnold4
Bakri Elsheikh1- 1The Ohio State University Wexner Medical Center Department of Neurology, Columbus, United States
- 2The Ottawa Hospital Research Institute, Ottawa, Canada
- 3The Ohio State University Department of Biomedical Informatics, Columbus, United States
- 4University of Missouri, Columbia, United States
- 5Knox Community Hospital, Mount Vernon, United States
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Introduction: Risdiplam has been shown to be safe, well tolerated, and improves or stabilizes motor function in individuals with SMA, but limited published data exists for adults. The aim of this study was to assess the efficacy, safety, and tolerability of risdiplam treatment for adults with SMA. Methods: We conducted a retrospective chart review on adult patients with 5q-SMA who received risdiplam for a minimum of six months, including both treatment naïve and those who switched from nusinersen. Baseline demographic data was collected and outcomes included the Revised Upper Limb Module, Children's Hospital of Philadelphia Adult Test of Neuromuscular Disorders (CHOP-ATEND), six-minute walk test, Hammersmith Functional Motor Scale-Expanded, and forced vital capacity. Assessments were performed at baseline, 6, 12, and 24 months. Self-reported adverse effects were recorded. Linear mixed models were used for analysis. Results: Eighteen patients (mean age 41.11 years) met inclusion criteria. CHOP-ATEND scores increased at 12 (+1.99, p=.030) and 24 months (+2.12; p=0.042), while all other outcomes showed stability. The most common self-reported adverse effects were gastrointestinal issues. Serious adverse events included pneumonia, appendicitis, and femur and tibia/fibula fractures. The latter two were considered unlikely related to treatment. Discussion: Risdiplam is overall safe and well-tolerated up to 24 months in adults with SMA. The treatment resulted in improvement or stabilization of motor and respiratory function in non-ambulatory and ambulatory patients. Improvement on the CHOP-ATEND suggests it may be a sensitive marker of change. Longer-term follow-up is needed to understand the impact of risdiplam in adults with SMA.
Keywords: Risdiplam, SMA, adults, outcomes, Safety, effect
Received: 27 Aug 2025; Accepted: 16 Dec 2025.
Copyright: © 2025 Jaworek, Jira, Allen, Zhao, Kelly, Moravec, Tellez, Heintzman, Reynolds, Sterling, Kolb, Arnold and Elsheikh. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Andrea Jana Jaworek
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