[en] 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.
Disciplines :
Pediatrics
Author, co-author :
Ramdas, Sithara; Department of Paediatrics, MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK ; Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK
Oskoui, Maryam; Departments of Pediatrics and Neurology and Neurosurgery, McGill University, Montreal, Canada ; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montreal, Canada
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; Department of Paediatrics, MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK. Laurent.servais@paediatrics.ox.ac.uk ; Academic Paediatric Department, Level 2 Children Hospital-John Radcliffe Hospital, Headley Way, Headington, Oxford, OX3 9DU, UK. Laurent.servais@paediatrics.ox.ac.uk
Language :
English
Title :
Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians.
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