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Canadian Fabry Disease Initiative (CFDI) National Registry

Recruitingn/aAges 5 Years - 85 YearsAllCanadian Fabry Research Consortium
NCT00455104 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

CFDI NATIONAL REGISTRY Fabry disease is a rare, inherited, genetic condition due to a deficiency of an enzyme called alpha-galactosidase A. This enzyme deficiency causes the small blood vessels to accumulate a substance called glycolipid. Without sufficient levels of the enzyme, alpha-galactosidase A, persons with Fabry Disease develop severe neuropathic pain, kidney disease, heart disease, stroke and/or premature death; often before the age of 60. Fabry Disease is estimated to affect approximately one out of every 40,000 males and up to twice as many females in Canada. We do not have the exact number of persons in Canada who have this disease. A common problem in studying rare conditions is the difficulty in identifying the majority of people suffering from such a disease. Gathering their health information in order to better understand the natural disease progression and its response

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📋 Eligibility rules (as published)
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
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What it tests

  • No intervention
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Where

5 sites
Alberta Children's Hospital
Calgary, Canada
Vancouver General Hospital Adult Metabolic Diseases Clinic
Vancouver, Canada
Queen Elizabeth II Health Sciences Centre
Halifax, Canada
Toronto Western Hospital
Toronto, Canada
University of Montreal, Department of Medicine
Montreal, Canada
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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