Canadian Fabry Disease Initiative (CFDI) National Registry
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 Fabr
| Condition(s) | Fabry Disease |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | 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 |
| Who can participate | 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 |
| Ages | 5 Years to 85 Years |
| Sex | All |
| Lead sponsor | Canadian Fabry Research Consortium |
| Locations | Calgary, Alberta, Canada; Vancouver, British Columbia, Canada; Halifax, Nova Scotia, Canada; Toronto, Ontario, Canada; Montreal, Quebec, Canada |
| Start date | 2007-01 |
| NCT ID | NCT00455104 |
| Official listing | https://clinicaltrials.gov/study/NCT00455104 |