Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada
Newborn screening (NBS) for spinal muscular atrophy (SMA) and reimbursement of disease-modifying therapies (DMTs) are managed provincially in Canada, creating inequities in diagnosis and treatment. We describe NBS methodology, reporting practices, and DMT reimbursement across Canada and report the first national birth prevalence of SMA.
Authors
- Homira Osman (ORCID: https://orcid.org/0009-0001-4225-9075)
- Kristin D. Kernohan (ORCID: https://orcid.org/0009-0006-8265-2820)
- Kathryn A. Selby (ORCID: https://orcid.org/0000-0001-9239-1704)
- Andrew Muranyi (ORCID: https://orcid.org/0009-0002-1626-4054)
- Nick A. Antonishyn (ORCID: https://orcid.org/0009-0008-6924-355X)
- Graham B. Sinclair (ORCID: https://orcid.org/0000-0002-3815-2005)
- Maryam Oskoui (ORCID: https://orcid.org/0000-0003-1042-0108)
- Yves Giguère (ORCID: https://orcid.org/0000-0002-8655-1609)
- Stacey L. Hume (ORCID: https://orcid.org/0000-0002-3217-3032)
- Paul G. Van Caeseele (ORCID: https://orcid.org/0000-0003-1334-1165)
- Hugh J. McMillan (ORCID: https://orcid.org/0000-0001-8927-2018)
- Melanie Lacaria (ORCID: https://orcid.org/0000-0003-2249-063X)
- Zaiping Liu (ORCID: https://orcid.org/0009-0003-0524-0265)
- Cherie Evans (ORCID: https://orcid.org/0009-0002-3601-2698)
Institutions
- Dalhousie University (CA)
- Children's Hospital of Eastern Ontario (CA)
- Saskatchewan Health (CA)
- Muscular Dystrophy Canada (CA)
- Alberta Hospital Edmonton (CA)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Nova Scotia Health Authority (CA)
- University of Alberta Hospital (CA)
- BC Children's Hospital (CA)
- Université Laval (CA)
- Cadham Provincial Laboratory (CA)
- Université de Montréal (CA)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-10-15
- DOI
- https://doi.org/10.1212/nxg.0000000000200451
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Biogen
- Sarepta Therapeutics