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Canadian Fabry Disease Initiative National Registry

This study aims to help us learn more about Fabry disease—how it develops over time and how different treatments affect it.

The goal of this research is to create a national registry where we can collect key health information about Fabry disease. Fabry disease is a rare genetic condition passed down from parents. It affects about one in 40,000 males in Canada, and up to twice as many females. One of the biggest challenges in studying rare diseases is finding enough patients to understand the condition better. By gathering their medical information in a registry, researchers can get a clearer picture of how the disease progresses and how people respond to treatment.

Participants will have their medical records reviewed, and they will also be asked to undergo certain tests and procedures, including blood tests and imaging scans.

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Participation Requirements

  • Sex:

    Male, Female, Intersex

  • Eligible Ages:

    5 and up

Participation Criteria

Inclusion Criteria:
You may be eligible to participate if you:
1. Have a diagnosis of Fabry disease or a female with family history of the disease AND
2. Are able to give informed consent AND
3. Are willing to comply with recommended schedule of assessments
AND
4. Hold a Canadian citizenship or are a landed immigrant
Exclusion Criteria:
You're not eligible to participate if you:
1. Have an estimated life expectancy less than 1 year
2. Have a non-disease causing mutation
3. Are under 5 years of age

Study Location

University of Calgary
University of Calgary
Calgary, Alberta
Canada

Contact Study Team

Study Sponsored By
University of Calgary
Participants Required
More Information
Study ID: REB25-0558