Developing a National Network for Leukodystrophy Research and Care in Canada
Leukodystrophies (LDs) are a group of rare, genetic disorders unified by their hallmark involvement of the cerebral white matter. They are typically characterized as progressive disorders, resulting in severe neurologic decline and premature death within months to years after onset. Managing LDs therefore requires lifelong, multidisciplinary care, a challenge compounded by their rarity and phenotypic heterogeneity, for which detailed clinical and scientific information is sometimes lacking. Research networks have proven useful in the rare disease community to unite efforts, increase awareness, and accelerate progress toward understanding and treating these often understudied conditions. Therefore, we established the Canadian Association for Research Excellence in Leukodystrophy (CARELeuko), a national network dedicated to improving LD care, research, and treatment within Canada. To better understand and address the most pressing needs for LDs in Canada, we engaged a diverse group of stakeholders including researchers, clinicians, and patient advocates to highlight and prioritize gaps in LD care and research. In this review, we discuss the key gaps identified in the Canadian LD landscape and outline strategies to address these challenges. This effort will inform the development of targeted initiatives aimed at improving outcomes for Canadian families affected by these debilitating disorders.
Authors
- L McIntyre
- Roberta La Piana (ORCID: https://orcid.org/0000-0002-4207-5065)
- Geneviève Bernard (ORCID: https://orcid.org/0000-0002-9634-2966)
- Thomas M. Durcan (ORCID: https://orcid.org/0000-0003-3942-1956)
- Ghalib Bardai (ORCID: https://orcid.org/0000-0002-1319-4639)
- Adam Le (ORCID: https://orcid.org/0009-0003-8403-4143)
- Timothy E. Kennedy (ORCID: https://orcid.org/0000-0003-4454-5080)
- Valerio E. C. Piscopo (ORCID: https://orcid.org/0000-0002-0602-2839)
- Sabrina Alam (ORCID: https://orcid.org/0000-0001-8547-8422)
- Bethanie R. Smith
- Bernard Brais (ORCID: https://orcid.org/0000-0003-1394-3561)
- Thierry Lacaze‐Masmonteil
- Émilie Lapointe
- Justin Simo
- Samuel Gauthier
- Carl Ernst (ORCID: https://orcid.org/0000-0002-2959-221X)
- Valerie Greger (ORCID: https://orcid.org/0000-0001-7716-3973)
- S. Venkateswaran (ORCID: https://orcid.org/0000-0002-7000-6710)
- John J. Mitchell (ORCID: https://orcid.org/0000-0002-6055-6858)
- Naomi Goloff (ORCID: https://orcid.org/0000-0001-7604-5684)
- Donald C. Vinh (ORCID: https://orcid.org/0000-0003-1347-7767)
- Alexandra Chapleau (ORCID: https://orcid.org/0000-0002-4741-1355)
- Laura Lentini (ORCID: https://orcid.org/0009-0000-5449-1229)
- J. J. Barnett
- Yixiong Zhou
- Badawy Riham
- Ron Chapleau (ORCID: https://orcid.org/0009-0002-3231-4197)
- Josée Della Rocca
- Lynda-Marie Louis
- Ashley Dike
- David F. McIntyre
- Jérome Tardif
- Valérie Loignon
- Sophie Contant
- Felipe Villa Tobón (ORCID: https://orcid.org/0000-0002-3092-0399)
Institutions
- Wesleyan University (US)
- Western University (CA)
- Montreal Neurological Institute and Hospital (CA)
- Muscular Dystrophy Association (US)
- St Louis Community College (US)
- Montreal Children's Hospital (CA)
- Oakville-Trafalgar Memorial Hospital (CA)
- London Health Sciences Centre (CA)
- McGill University Health Centre (CA)
- Département sciences pour l'action, les transitions, les territoires (FR)
- Children's Hospital of Western Ontario (CA)
- Fondation pour la Recherche Médicale (FR)
- Child and Family Research Institute (CA)
- Hope Foundation (US)
- McGill University (CA)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1212/nxg.0000000000200313
- Primary Topic
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00