Canadian Fabry Disease Initiative (CFDI) National Registry (CFDI-NR)
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.
|Study Type:||Observational [Patient Registry]|
|Study Design:||Observational Model: Other
Time Perspective: Other
|Target Follow-Up Duration:||10 Years|
|Official Title:||Canadian Fabry Disease Initiative National Registry: Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification|
- (1) To maintain an established national database for the identification and monitoring of all patients with Fabry disease in Canada. [ Time Frame: 2019 ]
- 2) To identify the clinical outcomes of patients with Fabry disease including those on various treatments. [ Time Frame: 2019 ]
- 3) To determine if urine and Gb3 and lysoGb3 and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes. [ Time Frame: 2019 ]
Biospecimen Retention: Samples Without DNA
|Actual Study Start Date:||January 2007|
|Estimated Study Completion Date:||October 2019|
|Estimated Primary Completion Date:||October 2019 (Final data collection date for primary outcome measure)|
To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada.
Other: No intervention
This is an observational, voluntary registry.
CFDI NATIONAL REGISTRY: Canada-Wide Patient Recruitment
There are over 600 people in Canada known to have Fabry Disease. For more details about Fabry Disease, please refer to the "Brief Summary."
The goals of this nation-wide study are as follows:
- To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada;
- To determine clinical outcomes of patients with Fabry disease including those on treatment;
- To determine if urine and plasma Gb3 and globotriasylsphingosine (LysoGb3) and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes.
Data will be collected at baseline and every 12 months, as follows:
- Medical History
- Physical examination
- Neurological exam
- Electrocardiogram (ECG) - an electrical tracing of one's heart rhythm
- Echocardiogram (ultrasound of the heart)
- Holter monitor
- Magnetic Resonance Imaging (MRI) or CT Scan of the head
- Lab tests (including alpha-galactosidase levels)
- Review of current medications
- 24-hour urine collection or a random spot urine test
- Biomarker samples
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 (approximately $300,000 CDN per year per patient). 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00455104
|Contact: Michael L. West, MDfirstname.lastname@example.org|
|Contact: Kaye Le Moine, RNemail@example.com|
|Alberta Children's Hospital||Recruiting|
|Calgary, Alberta, Canada, T2T 5C7|
|Contact: Aneal Khan, MD 403-955-7211 firstname.lastname@example.org|
|Contact: Colleen McNeil 403-955-7941 email@example.com|
|Principal Investigator: Aneal Khan, MD|
|Canada, British Columbia|
|Vancouver General Hospital Adult Metabolic Diseases Clinic||Recruiting|
|Vancouver, British Columbia, Canada, V5Z 1M9|
|Contact: Sandra Sirrs, MD 604-875-5965 firstname.lastname@example.org|
|Contact: Wendy Paquin, RN 604-875-5965 email@example.com|
|Principal Investigator: Sandra Sirrs, MD, FRCPC|
|Canada, Nova Scotia|
|Queen Elizabeth II Health Sciences Centre||Recruiting|
|Halifax, Nova Scotia, Canada, B3H 1V8|
|Contact: Michael L West, MD 902-473-4023 firstname.lastname@example.org|
|Contact: Laurie Kay, RN 902-473-2082 email@example.com|
|Principal Investigator: Michael L West, MD|
|Toronto Western Hospital||Recruiting|
|Toronto, Ontario, Canada, M5T 2S8|
|Contact: Mark R. Iwanochko, MD, FRCPC 416-603-5236 firstname.lastname@example.org|
|Contact: Syed Wasim 416-586-4800 ext 4231 email@example.com|
|Principal Investigator: Mark R Iwanochko, MD, FRCPC|
|University of Montreal, Department of Medicine||Recruiting|
|Montreal, Quebec, Canada|
|Contact: Daniel Bichet, MD 514-338-2222 ext 2173 firstname.lastname@example.org|
|Contact: Carole Fortier, RN 514-338-2222 ext 3110 email@example.com|
|Principal Investigator: Daniel Bichet, MD|
|Principal Investigator:||Michael L West, MD||Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada|