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Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians

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Abstract

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.

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Authors and Affiliations

  1. Department of Paediatrics, MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK

    Sithara Ramdas & Laurent Servais

  2. Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK

    Sithara Ramdas

  3. Departments of Pediatrics and Neurology and Neurosurgery, McGill University, Montreal, Canada

    Maryam Oskoui

  4. Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montreal, Canada

    Maryam Oskoui

  5. Division of Child Neurology, Department of Pediatrics, Centre de Référence des Maladies Neuromusculaires, University Hospital Liège and University of Liège, Liège, Belgium

    Laurent Servais

  6. Academic Paediatric Department, Level 2 Children Hospital–John Radcliffe Hospital, Headley Way, Headington, Oxford, OX3 9DU, UK

    Laurent Servais

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LS gave consultancy/is part of the board/conducts research funded by Biogen, Novartis, Roche, BioHaven, Scholar Rock, Zentech, Illumina. MO has no conflict of interest. SR has served on advisory boards for Roche and Novartis and received speaker fees for educational events from Roche and Novartis.

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LS had the original idea for the review, conducted the literature search and drafted the paper. MO conducted the literature search and drafted the paper. SR conducted the literature search and drafted the paper. All authors have read and approved the final submitted manuscript, and agree to be accountable for the work.

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Ramdas, S., Oskoui, M. & Servais, L. Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians. Drugs 84, 747–762 (2024). https://doi.org/10.1007/s40265-024-02051-2

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