Treatment options in spinal muscular atrophy: a pragmatic approach for clinicians

Journal article : Review

Spinal muscular atrophy (SMA) is a rare neurodegenerative neuromuscular disorder with a wide phenotypic spectrum of severity. SMA was previously life limiting for patients with the most severe phenotype and resulted in progressive disability for those with less severe phenotypes. This has changed dramatically in the past few years with the approvals of three disease-modifying treatments. We review the evidence supporting the use of currently approved SMA treatments (nusinersen, onasemnogene abeparvovec, and risdiplam), focusing on mechanisms of action, side effect profiles, published clinical trial data, health economics, and pending questions. Whilst there is robust data from clinical trials of efficacy and side effect profile for individual drugs in select SMA populations, there are no comparative head-to-head clinical trials. This presents a challenge for clinicians who need to make recommendations on the best treatment option for an individual patient and we hope to provide a pragmatic approach for clinicians across each SMA profile based on current evidence.

Authors: Ramdas, S; Oskoui, M; Servais, L

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer
• Journal: Drugs
• Volume: 84
• Issue: 7
• Pages: 747-762
• Publication date: 2024-06-15
• Acceptance date: 2024-05-19
• DOI: 10.1007/s40265-024-02051-2
• EISSN: 1179-1950
• ISSN: 0012-6667
• Pmid: 38878146
• Language: English
• Keywords: azo compounds; recombinant fusion proteins; clinical research; neurodegenerative; pyrimidines; neurosciences; pediatric; neurological; spinal muscular atrophy; clinical trials and supportive activities; oligonucleotides; biological products; rare diseases; musculoskeletal
• Subtype: Review