• (1) To determine the degree to which existing complications of Fabry disease respond or fail to respond to ERT; [ Time Frame: 2017 ] [ Designated as safety issue: Yes ]
  

• (2) To establish a national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada; [ Time Frame: 2017 ] [ Designated as safety issue: No ]
  
• 3) To determine the impact of ERT on the development of complications of Fabry disease in men and women who are on ERT or whose ERT was interrupted; [ Time Frame: 2017 ] [ Designated as safety issue: Yes ]
  
• 4) To identify which of these clinical problems can best predict the outcome of ERT on Fabry disease. [ Time Frame: 2017 ] [ Designated as safety issue: Yes ]
  
• 5) To identify possible side effects of ERT [ Time Frame: 2017 ] [ Designated as safety issue: Yes ]
  

CFDI STUDY with ENZYME REPLACE THERAPY (ERT): Canada-Wide Patient Recruitment

There are approximately 250 people in Canada known to have Fabry Disease For more details about Fabry Disease, please refer to the "Brief Summary." The Canadian Fabry Disease Initiative will collect information from 3 different study groups of Fabry subjects recruited from across Canada over a 10-year period.

The 5 goals of this nation-wide study are as follows:

1. To establish a national registry which will collect information related to the identification and monitoring of all persons with Fabry disease in Canada;
2. To determine the degree to which existing complications of Fabry disease respond or fail to respond to ERT;
3. To determine the impact of ERT on the development of complications of Fabry disease in men and women who are on ERT or whose ERT was interrupted;
4. To identify which of these clinical problems can best predict the outcome of ERT on Fabry disease.
5. To identify possible side effects of ERT.

This 3-armed study will consist of 3 study populations. The first group will be referred to as Cohort 1A.

This group includes males and females with Fabry Disease, who are currently on ERT or have had ERT treatment interrupted. We are expecting approximately 50 persons in Cohort 1A in total. The second group, Cohort 1B, will consist of people who have never had ERT, but who now meet the current Canadian guidelines for starting ERT therapy. Approximately 100 subjects will be recruited in Canada.

The third group will be called the Natural History Cohort with approximately 100 Canadian subjects with mild Fabry Disease who currently do not need ERT. For BC, we anticipate recruiting 15 subjects for the Natural History Cohort group. All these numbers are estimates because the exact number of people in Canada with Fabry Disease is unknown at this time.

Data will be collected at baseline and every 6 months for 3 years, as follows:

• Medical History
• Physical examination
• Neurological exam
• Eye exam
• Electrocardiogram (ECG) - an electrical tracing of one's heart rhythm
• Echocardiogram (ultrasound of the heart)
• Holter monitor
• Audiogram
• Magnetic Resonance Imaging (MRI) or CT Scan of the head
• Pain Questionnaire and a Quality of Life Questionnaire
• Lab tests (including alpha-galactosidase levels)
• Review of current medications
• 24-hour urine collection or a random spot urine test

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.