Canadian Fabry Disease Initiative (CFDI) National 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.

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