National registry for Fabry disease in Canada
Official title: Canadian Fabry Disease Initiative National Registry: Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification
Run by Canadian Fabry Research Consortium · NCT00455104 · Data updated 2026-11-12
This study is setting up a national registry to collect health information from people with Fabry disease in Canada to better understand how the disease progresses and how treatments work.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 5 Years to 85 Years |
| Sex | All |
| Enrollment | 600 (estimated) |
| Sponsor | Canadian Fabry Research Consortium Research network |
| Locations | 5 sites (Calgary, Alberta and 4 other locations) |
| Status | Recruiting |
| Started | January 2007 |
| Main results expected | October 2029 |
| Study ends | October 2029 |
| Registry record updated | February 15, 2024 |
| Trial ID | NCT00455104 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals aged 5 to 85 years with a clinical diagnosis of Fabry disease who can provide informed consent.
✕Probably not a fit
Patients who may not benefit from this study include those with non-disease causing mutations or an estimated life expectancy of less than 12 months.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The Canadian Fabry Disease Initiative (CFDI) National Registry aims to establish a comprehensive registry to collect health information from individuals diagnosed with Fabry disease across Canada. This observational study will gather data on clinical outcomes, treatment responses, and potential biomarkers related to the disease. Participants will undergo regular assessments, including medical history, physical exams, and various diagnostic tests, to better understand the disease's progression and treatment efficacy. The registry will help address the challenges of studying this rare condition by identifying and monitoring affected individuals.
Why it matters
Potential benefit: If successful, this registry could enhance understanding of Fabry disease and improve patient management and treatment outcomes.
How similar studies have gone: Other studies have successfully utilized national registries to improve understanding and management of rare diseases, making this approach promising.
Who can join: the full rules
Show full inclusion / exclusion criteria
INCLUSION CRITERIA: * Age 5 years and older, up to \& including age 85 years; and * Able to give informed consent; and * A clinical diagnosis of Fabry disease; and * Compliance with all the clinic visits, interviews and assessments during the study period; and * A Canadian citizen or a landed immigrant EXCLUSION CRITERIA: * Inability to give informed consent; or * Problem complying with all the clinic visits, interviews and assessments during the study period; or * An estimated life expectancy of less than 12 months * Under 5 years of age * Non-disease causing mutation
Where it's running
-
Alberta Children's Hospital
Calgary, Alberta, Canada Recruiting -
Vancouver General Hospital Adult Metabolic Diseases Clinic
Vancouver, British Columbia, Canada Recruiting -
Queen Elizabeth II Health Sciences Centre
Halifax, Nova Scotia, Canada Recruiting -
Toronto Western Hospital
Toronto, Ontario, Canada Recruiting -
University of Montreal, Department of Medicine
Montreal, Quebec, Canada Recruiting
Study contacts
- Principal investigator: Michael L West, MD — Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada
- Study coordinator: Michael L. West, MD
- Email: mlwest@dal.ca
- Phone: 902-473-4023
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Lucerastat in untreated adult men with Fabry disease shows how well it works and safety
This study tests lucerastat to see if it can reduce Gb3 buildup and be safe in untreated adult men with Fabry disease.
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Periodontal Health in Rare Kidney Conditions and Controls
This study tests how common periodontitis is in people with rare kidney disorders and compares it to CKD patients and people without kidney disease.
-
Anderson-Fabry disease fitness improvement program
This study tests whether a 12-week physiotherapy-led exercise program can improve function, fitness, strength, and quality of life in adults with Fabry disease.
-
Using advanced heart MRI to improve diagnosis and risk prediction for rare cardiomyopathies
This project tests whether advanced cardiac MRI techniques can help diagnose and predict future risk for people with rare heart muscle diseases like Danon, Fabry, cardiac amyloidosis, Noonan syndrome, and cardiac sarcoidosis.
-
Quality of life for people 65+ with Fabry disease, treated or untreated
This project will see if starting or continuing Fabry disease treatment changes quality of life over two and five years in people aged 65 and older.
-
Agalsidase alfa for heart inflammation in Fabry disease measured by PET‑CMR
This study will test whether agalsidase alfa reduces heart inflammation in people with Fabry disease by comparing PET‑CMR scans before and after 12 months of treatment.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.