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Canadian Fabry Disease Initiative (CFDI) National Registry (CFDI-NR)

This study is currently recruiting participants.
See Contacts and Locations
Verified July 2017 by Canadian Fabry Research Consortium
Sponsor:
Collaborator:
Nova Scotia Health Authority
Information provided by (Responsible Party):
Canadian Fabry Research Consortium
ClinicalTrials.gov Identifier:
NCT00455104
First received: March 30, 2007
Last updated: July 31, 2017
Last verified: July 2017
  Purpose

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.


Condition Intervention
Fabry Disease Other: No intervention

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

Resource links provided by NLM:


Further study details as provided by Canadian Fabry Research Consortium:

Primary Outcome Measures:
  • (1) To maintain an established national database for the identification and monitoring of all patients with Fabry disease in Canada. [ Time Frame: 2019 ]

Secondary Outcome Measures:
  • 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
Biomarker samples

Estimated Enrollment: 600
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)
Groups/Cohorts Assigned Interventions
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.
Other: No intervention
This is an observational, voluntary registry.

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:

  1. To maintain an established national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada;
  2. To determine clinical outcomes of patients with Fabry disease including those on treatment;
  3. 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.

  Eligibility

Ages Eligible for Study:   5 Years to 85 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with Fabry disease living in Canada.
Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00455104

Contacts
Contact: Michael L. West, MD 902-473-4023 mlwest@dal.ca
Contact: Kaye Le Moine, RN 902-473-5770 kaye.lemoine@cdha.nshealth.ca

Locations
Canada, Alberta
Alberta Children's Hospital Recruiting
Calgary, Alberta, Canada, T2T 5C7
Contact: Aneal Khan, MD    403-955-7211    aneal.khan@albertahealthservices.ca   
Contact: Colleen McNeil    403-955-7941    colleen.mcneil@albertahealthservices.ca   
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    sandra.sirrs@vch.ca   
Contact: Wendy Paquin, RN    604-875-5965    wendy.paquin@vch.ca   
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    mlwest@dal.ca   
Contact: Laurie Kay, RN    902-473-2082    laurie.kay@cdha.nshealth.ca   
Principal Investigator: Michael L West, MD         
Canada, Ontario
Toronto Western Hospital Recruiting
Toronto, Ontario, Canada, M5T 2S8
Contact: Mark R. Iwanochko, MD, FRCPC    416-603-5236    robertmark.iwanochko@uhn.on.ca   
Contact: Syed Wasim    416-586-4800 ext 4231    syed.wasim@sickkids.ca   
Principal Investigator: Mark R Iwanochko, MD, FRCPC         
Canada, Quebec
University of Montreal, Department of Medicine Recruiting
Montreal, Quebec, Canada
Contact: Daniel Bichet, MD    514-338-2222 ext 2173    daniel.bichet@umontreal.ca   
Contact: Carole Fortier, RN    514-338-2222 ext 3110    c-fortier@crhsc.rtss.qc.ca   
Principal Investigator: Daniel Bichet, MD         
Sponsors and Collaborators
Canadian Fabry Research Consortium
Nova Scotia Health Authority
Investigators
Principal Investigator: Michael L West, MD Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada
  More Information

Additional Information:
Responsible Party: Canadian Fabry Research Consortium
ClinicalTrials.gov Identifier: NCT00455104     History of Changes
Other Study ID Numbers: CFDI 001 - NR
Study First Received: March 30, 2007
Last Updated: July 31, 2017

Keywords provided by Canadian Fabry Research Consortium:
Fabry Disease
National Registry

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Fabry Disease
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on September 21, 2017