Canadian Fabry Disease Initiative (CFDI) National Registry

NCT00455104 | Recruiting DMC

• 1 other identifier: CFDI 001 - NR
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 5

Brief 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 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.

Conditions

Fabry Disease

Keywords

Fabry Disease; National Registry

Outcome Measures

Primary Outcomes (1)

• (1) To maintain an established national database for the identification and monitoring of all patients with Fabry disease in Canada.

  2019

Secondary Outcomes (2)

• 2) To identify the clinical outcomes of patients with Fabry disease including those on various treatments.

  2019

• 3) To determine if urine and Gb3 and lysoGb3 and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes.

  2019

Study Arms (1)

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

Interventions

No intervention OTHER

This is an observational, voluntary registry.

National Registry

Eligibility Criteria

• Age: 5 Years - 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with Fabry disease living in Canada.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Canadian Fabry Research Consortium: lead
• Nova Scotia Health Authority: collaborator

Study Sites (5)

Alberta Children's Hospital

Calgary, Alberta, T2T 5C7, Canada

RECRUITING

Vancouver General Hospital Adult Metabolic Diseases Clinic

Vancouver, British Columbia, V5Z 1M9, Canada

RECRUITING

Queen Elizabeth II Health Sciences Centre

Halifax, Nova Scotia, B3H 1V8, Canada

RECRUITING

Toronto Western Hospital

Toronto, Ontario, M5T 2S8, Canada

RECRUITING

University of Montreal, Department of Medicine

Montreal, Quebec, Canada

RECRUITING

Related Links

• Fabry Disease: recommendations for diagnosis, management, and enzyme replacement therapy in Canada Nov 2005

Biospecimen

Retention: SAMPLES WITHOUT DNA

Biomarker samples

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Michael L West, MD

  Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Michael L. West, MD

CONTACT

902-473-4023; mlwest@dal.ca

Kaye Le Moine, RN

CONTACT

902-473-5770; kaye.lemoine@cdha.nshealth.ca

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 10 Years
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 30, 2007
• First Posted: April 3, 2007
• Study Start: January 1, 2007
• Primary Completion (Estimated): October 1, 2029
• Study Completion (Estimated): October 1, 2029
• Last Updated: February 15, 2024

Record last verified: 2024-02

Locations

CA (5)