- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00455104
Canadian Fabry Disease Initiative (CFDI) National Registry (CFDI-NR)
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.
Study Overview
Detailed Description
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.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Michael L. West, MD
- Phone Number: 902-473-4023
- Email: mlwest@dal.ca
Study Contact Backup
- Name: Kaye Le Moine, RN
- Phone Number: 902-473-5770
- Email: kaye.lemoine@cdha.nshealth.ca
Study Locations
-
-
Alberta
-
Calgary, Alberta, Canada, T2T 5C7
- Recruiting
- Alberta Children's Hospital
-
Contact:
- Aneal Khan, MD
- Phone Number: 403-955-7211
- Email: aneal.khan@albertahealthservices.ca
-
Contact:
- Colleen McNeil
- Phone Number: 403-955-7941
- Email: colleen.mcneil@albertahealthservices.ca
-
Principal Investigator:
- Aneal Khan, MD
-
-
British Columbia
-
Vancouver, British Columbia, Canada, V5Z 1M9
- Recruiting
- Vancouver General Hospital Adult Metabolic Diseases Clinic
-
Contact:
- Anna Lehman, MD
- Phone Number: 604-875-5965
- Email: anna.lehman@vch.ca
-
Contact:
- Caroline Selvage, RN
- Phone Number: 604-875-5965
- Email: caroline.selvage@vch.ca
-
Principal Investigator:
- Anna Lehman, MD, FRCPC
-
-
Nova Scotia
-
Halifax, Nova Scotia, Canada, B3H 1V8
- Recruiting
- Queen Elizabeth II Health Sciences Centre
-
Contact:
- Michael L West, MD
- Phone Number: 902-473-4023
- Email: mlwest@dal.ca
-
Contact:
- Laurie Kay, RN
- Phone Number: 902-473-2082
- Email: laurie.kay@cdha.nshealth.ca
-
Principal Investigator:
- Michael L West, MD
-
-
Ontario
-
Toronto, Ontario, Canada, M5T 2S8
- Recruiting
- Toronto Western Hospital
-
Contact:
- Mark R. Iwanochko, MD, FRCPC
- Phone Number: 416-603-5236
- Email: robertmark.iwanochko@uhn.on.ca
-
Contact:
- Syed Wasim
- Phone Number: 4231 416-586-4800
- Email: syed.wasim@sickkids.ca
-
Principal Investigator:
- Mark R Iwanochko, MD, FRCPC
-
-
Quebec
-
Montreal, Quebec, Canada
- Recruiting
- University of Montreal, Department of Medicine
-
Contact:
- Daniel Bichet, MD
- Phone Number: 2173 514-338-2222
- Email: daniel.bichet@umontreal.ca
-
Contact:
- Carole Fortier, RN
- Phone Number: 3110 514-338-2222
- Email: c-fortier@crhsc.rtss.qc.ca
-
Principal Investigator:
- Daniel Bichet, MD
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Other
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
National Registry
To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada.
|
This is an observational, voluntary registry.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
(1) To maintain an established national database for the identification and monitoring of all patients with Fabry disease in Canada.
Time Frame: 2019
|
2019
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
2) To identify the clinical outcomes of patients with Fabry disease including those on various treatments.
Time Frame: 2019
|
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
|
2019
|
Collaborators and Investigators
Collaborators
Investigators
- Principal Investigator: Michael L West, MD, Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada
Publications and helpful links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Cerebral Small Vessel Diseases
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Fabry Disease
Other Study ID Numbers
- CFDI 001 - NR
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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