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

  • STATUS
    Recruiting
  • End date
    Oct 24, 2029
  • participants needed
    600
  • sponsor
    Canadian Fabry Research Consortium
Updated on 23 January 2022
deficiency
deficit
genetic disorder
neuropathic pain
alpha-galactosidase

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.

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.

Details
Condition Fabry Disease
Treatment No intervention
Clinical Study IdentifierNCT00455104
SponsorCanadian Fabry Research Consortium
Last Modified on23 January 2022

Eligibility

Yes No Not Sure

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
Clear my responses

How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar

Primary Contact

site

0/250

Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

Learn more

Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

Learn more

Similar trials to consider

Loading...

Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 

 • 

Private

Reply by • Private
Loading...

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.
Loading...

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note