Fabry DiseaseCFDI-NRNCT00455104
Canadian Fabry Disease Initiative (CFDI) National Registry
An observational study of Fabry Disease, run by Canadian Fabry Research Consortium at 5 sites in Canada.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 to 85 years
- Conditions the study is for
- Fabry Disease
- How many people
- 600 participants
- Where
- 5 sitesCanada
- Study dates
- Jan 2007to Oct 2029
- How long will I take part?
- 10 Years
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 85 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with Fabry disease living in Canada.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
Canada5 sites, 5 recruiting
- Recruiting
Alberta Children's Hospital
Calgary, Alberta, T2T 5C7
Aneal Khan, MD, 403-955-7211, aneal.khan@albertahealthservices.ca
Colleen McNeil, 403-955-7941, colleen.mcneil@albertahealthservices.ca
- Recruiting
Queen Elizabeth II Health Sciences Centre
Halifax, Nova Scotia, B3H 1V8
Michael L West, MD, 902-473-4023, mlwest@dal.ca
Laurie Kay, RN, 902-473-2082, laurie.kay@cdha.nshealth.ca
- Recruiting
University of Montreal, Department of Medicine
Montreal, Quebec
Daniel Bichet, MD, 514-338-2222 ext. 2173, daniel.bichet@umontreal.ca
Carole Fortier, RN, 514-338-2222 ext. 3110, c-fortier@crhsc.rtss.qc.ca
- Recruiting
Toronto Western Hospital
Toronto, Ontario, M5T 2S8
Mark R. Iwanochko, MD, FRCPC, 416-603-5236, robertmark.iwanochko@uhn.on.ca
Syed Wasim, 416-586-4800 ext. 4231, syed.wasim@sickkids.ca
- Recruiting
Vancouver General Hospital Adult Metabolic Diseases Clinic
Vancouver, British Columbia, V5Z 1M9
Anna Lehman, MD, 604-875-5965, anna.lehman@vch.ca
Caroline Selvage, RN, 604-875-5965, caroline.selvage@vch.ca
About this study
Official title: 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.
Read more
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.
Read the 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:
- 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.
- Conditions
- Fabry Disease
- Being tested
- No intervention
- Keywords
- Fabry Disease, National Registry
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
This is an observational, voluntary registry.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
(1) To maintain an established national database for the identification and monitoring of all patients with Fabry disease in Canada.
Measured: 2019
Secondary outcomes (2)
2) To identify the clinical outcomes of patients with Fabry disease including those on various treatments.
Measured: 2019
3) To determine if urine and Gb3 and lysoGb3 and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes.
Measured: 2019
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Apr 2007 (estimated)
- Study startJan 2007
- Primary completionOct 2029 (estimated)
- Study completionOct 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 600 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Canadian Fabry Research Consortium
- Sponsor type
- Research network
- Collaborators
- Nova Scotia Health Authority
- Responsible party
- Sponsor
- Investigators
- Michael L West, MD, Principal investigator, Queen Elizabeth II Health Sciences Centre (Capital District Health Authority), Halifax, Nova Scotia, Canada
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00455104
- Sponsor's protocol ID
- CFDI 001 - NR
- Acronym
- CFDI-NR
- Status last verified
- Feb 2024
- First submitted
- 30 Mar 2007
- Last updated
- 15 Feb 2024
- Results posted
- No
- Data monitoring committee
- Yes