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

February 14, 2024 updated by: Canadian Fabry Research Consortium

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

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

600

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Michael L. West, MD
  • Phone Number: 902-473-4023
  • Email: mlwest@dal.ca

Study Contact Backup

Study Locations

    • Alberta
    • British Columbia
      • Vancouver, British Columbia, Canada, V5Z 1M9
        • Recruiting
        • Vancouver General Hospital Adult Metabolic Diseases Clinic
        • Contact:
        • Contact:
        • 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:
        • Principal Investigator:
          • Michael L West, MD
    • Ontario
      • Toronto, Ontario, Canada, M5T 2S8
        • Recruiting
        • Toronto Western Hospital
        • Contact:
        • Contact:
        • Principal Investigator:
          • Mark R Iwanochko, MD, FRCPC
    • Quebec
      • Montreal, Quebec, Canada
        • Recruiting
        • University of Montreal, Department of Medicine
        • Contact:
        • Contact:
        • Principal Investigator:
          • Daniel Bichet, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 years to 85 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals with Fabry disease living in Canada.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

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

This is where you will find people and organizations involved with this study.

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

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2007

Primary Completion (Estimated)

October 1, 2029

Study Completion (Estimated)

October 1, 2029

Study Registration Dates

First Submitted

March 30, 2007

First Submitted That Met QC Criteria

March 30, 2007

First Posted (Estimated)

April 3, 2007

Study Record Updates

Last Update Posted (Estimated)

February 15, 2024

Last Update Submitted That Met QC Criteria

February 14, 2024

Last Verified

February 1, 2024

More Information

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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