Abstract
Background: Spinal Muscular Atrophy (SMA) is a rare disease that affects 1 in 11 000 live births. Recent developments in SMA treatments have included new disease-modifying therapies that require high quality data to inform decisions around initiation and continuation of therapy. In Canada, there are no nationally agreed upon outcome measures (OM) used in adult SMA. Standardization of OM is essential to obtain high quality data that is comparable among neuromuscular clinics. Objective: To develop a recommended toolkit and timing of OM for assessment of adults with SMA. Methods: A modified delphi method consisting of 2 virtual voting rounds followed by a virtual conference was utilized with a panel of expert clinicians treating adult SMA across Canada. Results: A consensus-derived toolkit of 8 OM was developed across three domains of function, with an additional 3 optional measures. Optimal assessment frequency is 12 months for most patients regardless of therapeutic access, while patients in their first year of receiving disease-modifying therapy should be assessed more frequently. Conclusions: The implementation of the consensus-derived OM toolkit will improve monitoring and assessment of adult SMA patients, and enrich the quality of real-world evidence. Regular updates to the toolkit must be considered as new evidence becomes available.
Original language | English |
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Pages (from-to) | 579-588 |
Number of pages | 10 |
Journal | Journal of Neuromuscular Diseases |
Volume | 8 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2021 |
Bibliographical note
Funding Information:Victoria Hodgkinson reports personal fees from Biogen and Hoffman-La Roche. Bernard Brais contributes to teaching sessions organized by Biogen, and participates in medical consultant meetings with Biogen and Hoffman-La Roche. Kristine Chapman serves on the Expensive Drugs for Rare Diseases Working Group. Angela Genge reports grants from Biogen; and consulting fees from AL-S Pharma, Alexion, Quralis, Cytokinetics, Mitsubishi-Tanabe, and Hoffman-La Roche. Aaron Izenberg reports personal fees Biogen, Mitsubishi-Tanabe, Hoffman-La Roche, Takeda, Akcea, Alnylam, Genzyme. Wendy Johnston reports personal fees from Biogen and Mitsubishi-Tanabe. Erin O’Farrell reports personal fees from Biogen, and grants from Sanofi Genzyme, Acceleron, and Grifols. Xavier Rodrigue reports personal fees from Hoffman-La Roche and Biogen. Christen Shoesmith serves on advisory boards for Mitsubishi-Tanabe and Orion Pharmaceuticals and is also a primary investigator for a clinical trial sponsored by Cytokinetics; a family member is employed by Hoffman-La Roche. Monique Taillon reports serving on Advisory Boards for Biogen, Hoffman-La Roche and Novartis. Lawrence Korngut reports grants and personal fees from Biogen and Hoffman-La Roche; and personal fees from Novartis. Colleen O’Connell reports grants from the New Brunswick Health Research Foundation (NBHRF) and personal fees from Hoffman-La Roche.
Funding Information:
The authors would like to thank the Dalhousie University Faculty of Medicine, and the New Brunswick Health Research Foundation (NBHRF) for funding support. The authors would also like to thank the CNDR for their assistance in facilitating this work.
Publisher Copyright:
© 2021 - The authors. Published by IOS Press.
ASJC Scopus Subject Areas
- Neurology
- Clinical Neurology
PubMed: MeSH publication types
- Journal Article