National registry for Fabry disease in Canada

Canadian Fabry Disease Initiative National Registry: Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification

Observational Canadian Fabry Research Consortium · NCT00455104

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 typeObservational
Enrollment600 (estimated)
Ages5 Years to 85 Years
SexAll
SponsorCanadian Fabry Research Consortium Research network
Locations5 sites (Calgary, Alberta and 4 other locations)
Trial IDNCT00455104 on ClinicalTrials.gov

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.

Who should consider this trial

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.

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.

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 performed: Other studies have successfully utilized national registries to improve understanding and management of rare diseases, making this approach promising.

Eligibility criteria

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 this trial is running

Calgary, Alberta and 4 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Fabry DiseaseNational Registry
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.