Collects health information from people in Canada living with Fabry disease
Records long-term health outcomes of people with Fabry disease, a rare inherited condition.
Plain-language title generated from the registry record
Registry title: Canadian Fabry Disease Initiative (CFDI) National Registry
Key facts
- Where
- Calgary, Halifax, Montreal, Toronto, and Vancouver, CanadaSee the 5 sites
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 5 and 85 years old?
Source: NCT00455104, who can take part
Where in Canada
- Alberta Children's HospitalCalgary, CanadaTaking people
- Queen Elizabeth II, Health Sciences CentreHalifax, CanadaTaking people
- University of Montreal, Department of MedicineMontreal, CanadaTaking people
- Toronto Western HospitalToronto, CanadaTaking people
- Vancouver General Hospital Adult Metabolic Diseases ClinicVancouver, CanadaTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Canadian Fabry Research Consortium
- Trial code
- NCT00455104
- Record updated
- 15 February 2024
- Original description
CFDI NATIONAL REGISTRYRead full original descriptionShow less
Canadian Fabry Disease Initiative National Registry: Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification
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 to treatment is difficult.
Early ERT studies involving humans had small numbers of subjects and the studies were of short duration. The results of these clinical studies did lead to approval of the therapy in many countries around the world including Canada. To date though, evidence of the usefulness of ERT and its direct impact on the natural course of Fabry disease has been limited, while its cost continues to be very high. As a result of these issues, there will need to be continued and long-term collection of information related to the effectiveness of ERT and other treatments to better document its true clinical outcomes in Canadian people with Fabry disease.
The Canadian Fabry Disease Initiative National Registry (CFDI-NR) is an observational, voluntary registry designed to collect outcomes data on Fabry disease from people living in Canada.
Inclusion: 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: Non-disease causing mutation; Under 5 years of age; 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.