Canadian Fabry Disease Initiative National Registry: Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification

What this Trial Is About

Fabry disease is a rare inherited genetic condition caused by a lack of an enzyme called alpha-galactosidase A. This deficiency leads to the buildup of glycolipids in small blood vessels, causing severe pain, kidney and heart problems, stroke, and early death, often before age 60. The study aims to better understand Fabry disease progression and treatment effects by collecting long-term health information from people in Canada living with the condition through a national registry. This observational registry collects data without providing any treatment. It includes people aged 5 to 85 years diagnosed with Fabry disease who live in Canada. Participants' health information is gathered at the start and every 12 months, including medical history, physical and neurological exams, heart tests like ECG and echocardiogram, brain imaging, lab tests, medication review, urine tests, and biomarker samples. The registry helps monitor the disease and evaluates biomarkers that may predict clinical outcomes. Participants will take part in scheduled visits for assessments and tests throughout the study period, which began in 2007 and continues until 2029. Researchers will use this data to maintain a national database to track and monitor Fabry disease patients in Canada. They will also study clinical outcomes and the potential role of specific biomarkers in predicting disease progression. This long-term effort is designed to improve understanding of Fabry disease and its response to treatments over time.

Canadian Fabry Disease Initiative (CFDI) National Registry