About

The Canadian Fabry Disease Initiative:

ClinicalTrials.gov Identifier: NCT00455104
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, 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 years old.Fabry Disease is estimated to affect approximately one out of every 40,000 males and up to twice as many females in Canada. We know there are approximately 469 people living in Canada with Fabry disease, with the largest number living in Nova Scotia. However, 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.

Until recently, treating symptoms was all that was available for people with Fabry Disease. In 2001, enzyme replacement therapy (ERT) was developed as a treatment for this rare condition. ERT provides the deficient enzyme and may be beneficial in Fabry Disease. 

Another purpose of this study is to establish a national registry which will collect information on all persons with Fabry Disease in Canada.

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 to better document its true clinical outcomes in Canadian people with Fabry disease.

The 3 goals of this nation-wide study are as follows:

  1. To maintain an established national database for the identification and monitoring of all subjects with Fabry disease in Canada;
  2. To determine the clinical outcome of patients under various treatments of Fabry disease;
  3. To determine of urine and plasma Gb3 and globotriaosylsphingosine (lysoGb3) and their analogues can be biomarkers for Fabry disease and can predict clinical outcomes in this condition.


The Canadian Fabry Disease Initiative National Registry (CFDI-NR) is an observational, voluntary registry designed to collect outcomes data on Fabry disease from individuals living in Canada.  This registry was initially established as part of the Canadian Fabry Disease Initiative (CFDI).  This data will be used to study the natural progression of Fabry disease, to determine the outcomes associated with therapeutic products, both established and in development and to correlate biomarkers in blood and unine with these outcomes

Data will be collected at baseline and every 6 months as follows:

  • Medical History
  • Physical examination
  • Neurological exam
  • Blood tests including alpha galactosidase levels and Biomarker samples
  • Electrocardiogram
  • Echocardiogram or Cardiac MRI
  • Holter monitor
  • MRI or CT Scan
  • Health Questionnaires
  • Review of current medications
  • Urine tests


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 to better document its true clinical outcomes in Canadian people with Fabry disease.

Eligibility
Ages Eligible for Study: ≥ 5 Years
Genders Eligible for Study: Both
Accepts Healthy Volunteers: No

Criteria

INCLUSION CRITERIA:

  • Clinical diagnosis of Fabry disease
  • Age ≥ 5 years
  • Able to give informed consent AND
  • Willing to comply with recommended schedule of assessments AND
  • Holding Canadian citizenship or being a  landed immigrant

EXCLUSION CRITERIA:

  • Inability to give informed consent
  • Inability or unwillingness to comply with recommended assessments
  • Estimated life expectancy < 1 year
  • Non-disease causing mutation
  • Under 5 years of age