ClinicalTrials.gov record NCT00455104

Canadian Fabry Disease Initiative (CFDI) National Registry

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Canadian Fabry Disease Initiative National Registry: Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Feb 15, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age5 years old and older
SexAll
LocationCanada
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A voluntary, observational national registry collecting health and lab information from people with Fabry disease living in Canada. Data are gathered at enrollment and yearly to track clinical outcomes and treatments and to collect biomarker samples. The registry will also study whether urine and plasma Gb3 and lysoGb3 relate to disease outcomes.

What it is studying. The study aims to build and maintain a national database of people with Fabry disease in Canada, describe clinical outcomes including in people on treatment, and evaluate whether urine and plasma Gb3 and lysoGb3 (and related molecules) can serve as biomarkers that predict clinical outcomes.

What the researchers hope to learn. Maintain a national registry of people with Fabry disease; determine clinical outcomes across treated and untreated patients; assess whether Gb3, lysoGb3, and related molecules can serve as biomarkers predicting outcomes.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • No intervention

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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 description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give medical history and undergo exams at enrollment and then every 12 months (target follow-up up to 10 years). Visits include physical and neurological exams, heart tests (ECG, echocardiogram), continuous rhythm monitoring (Holter), brain imaging (MRI or CT), lab tests and blood and urine samples for biomarker testing (including alpha‑galactosidase levels); a 24‑hour urine or a random spot urine may be collected. This is an observational registry and no study treatment is assigned. Expect annual clinic visits, tests, and sample collection.

How the study is structured. This is an observational, voluntary national registry with no assigned treatment. Participants have a baseline visit and annual follow-up visits (target duration up to 10 years). Information collected includes medical history, physical and neurological exams, heart tests (ECG, echocardiogram, Holter), possible brain imaging (MRI or CT), laboratory tests including enzyme levels, urine collections, and biomarker samples.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Canada. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
January 2007
Primary completion
October 2029 (estimated)
Study completion
October 2029 (estimated)
Target enrollment
600 participants (estimated)
Last updated on registry
Feb 15, 2024
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Canadian Fabry Research Consortium
Collaborators
  • Nova Scotia Health Authority

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (5)

Terms used on this page · explanations by MedicalUpdates.ai

REGISTRY
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
life expectancy
Some studies require that, in the investigator's judgement, a participant is likely to live long enough to complete the study period. It is a study requirement, not a prediction about any individual.
INCLUSION CRITERIA
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
EXCLUSION CRITERIA
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
baseline
Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
Electrocardiogram
A recording of the heart's electrical activity. QTc is one measurement from it; some drugs are avoided if it is prolonged.
Echocardiogram
An ultrasound scan of the heart. A transesophageal echocardiogram is done through a probe passed into the food pipe for a closer view.
Magnetic Resonance Imaging
A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
CT Scan
An X-ray scan that builds detailed cross-section images of the body. 'High-resolution' CT (HRCT) is used to look closely at the lungs.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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