CARELeuko Mission

CARELeuko’s overarching goal is to foster collaboration and accelerate breakthroughs in understanding, diagnosis, treatment, and care for leukodystrophy patients and families across Canada and worldwide. To achieve this, we are committed to advancing both research and clinical initiatives—enhancing scientific discovery while also strengthening patient care.

Research Aims

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Identifying and validating new leukodystrophy causing genes

We aim to leverage existing partnerships to offer rapid and accurate research-based diagnoses for paediatric and adult patients across Canada.

Advancing our understanding and developing therapeutics through cutting-edge research

We aim to investigate LD pathogenesis and develop novel therapeutics through animal and cellular models (e.g., iPSCs, organoids).

Improving patient care, limiting disease burden, and enhancing clinical trial readiness

We aim to characterize the natural history, identify suitable endpoints for clinical trials and examine disease burden to improve supportive therapeutic interventions in real-time.

Clinical Aims

CARELeuko aims to address the clinical barriers unique within Canada, including the need for additional LD clinical care centers, newborn screening programs, access to disease-modifying treatments, nationwide patient registries, and finally, increased educational emphasis on LDs in the training of medical personnel in both adult and pediatric spheres.

Specialized LD clinics are currently siloed to Montreal, Quebec (The Montreal Neurological Hospital and Montreal Children’s Hospital), and London, Ontario (Children’s Hospital), limiting access for millions of Canadians distant from these regions.

CARELeuko aims to facilitate the establishment of nationally recognized centers of excellence for LDs with dedicated funding and integrated multidisciplinary teams to improve access for all Canadians, better address patients' needs and reduce caregiver burden.

Newborn screening (NBS) is a highly effective strategy for improving early diagnosis, access to treatment, and quality of life for many progressive disorders where effective therapies are available.

CARELeuko aims to advocate for the expansion of newborn screening programs in Canada to include LDs. As novel therapies for conditions such as Pelizaeus-Merzbacher disease (PMD; MIM: 312080), Vanishing White Matter (VWM; MIM: 603896, 620312, 620313, 620314, 620315), Canavan disease (MIM: 271900), and Alexander’s disease (AxD; MIM: 203450) are advancing through clinical trials, this is increasingly warranted.

Canadian leukodystrophy patients face significant barriers in accessing newly approved therapies due to regulatory delays, market limitations, and a lack of treatment infrastructure. Compared to other high-income countries, Canada experiences longer approval times and fewer orphan drugs being submitted for review, limiting treatment options for patients. Even when approved, many therapies struggle to secure public reimbursement, further restricting access.

CARELeuko aims to address these challenges by advocating for streamlined regulatory pathways, fostering collaborations with pharmaceutical companies, and supporting investigator-initiated trials. Additionally, CARELeuko is committed to improving clinic readiness by facilitating training programs and ensuring the necessary infrastructure is in place to deliver advanced therapies across Canada.

Canada is home to diverse and unique founder populations, many of which have distinct clinical presentations. Furthermore, a unified understanding of the national landscape of leukodsytrophy patients remains lacking.

CARELeuko aims to bridge this gap by developing a national patient registry to better understand and characterize the prevalence of leukodystrophies across Canada, a clinical site registry to connect patients with clinicians, research groups, and care centers, and a registry for undiagnosed patients to support diagnoses by linking them to specialized research and clinical expertise.

Canada currently lacks a standardized framework for leukodystrophy education and specialized clinical training. As a result, many healthcare professionals may be unfamiliar with these rare diseases, leading to delays in diagnosis and gaps in patient care.

CARELeuko aims to promote and expand leukodystrophy education for healthcare practitioners and facilitate the specialized training of Canadian pediatric and adult neurologists to serve leukodystrophy patients nationwide.