This study investigates the natural history and progression of Fabry disease, a rare genetic disorder that affects the body's ability to break down a specific type of fat. People with this condition often experience pain, kidney issues, and heart problems. The study is observational, meaning it collects data from participants as they receive their usual care, without altering their treatment. This includes both men and women, with a specific focus on understanding how the disease progresses in heterozygous females, who have one normal and one mutated gene.
Participants in the study will undergo routine clinical assessments as part of their standard care. The study does not involve any experimental treatments. For those in the Fabry Pregnancy Sub-registry, additional data will be collected about pregnancy and birth outcomes. This includes information on medical and obstetric history, and for consenting participants, data on infant growth up to 36 months postpartum will also be collected.
- Who can participate: Adults with a confirmed diagnosis of Fabry disease who have signed the informed consent forms can participate. Pregnant women enrolled in the Fabry Registry and who provide consent are eligible for the Pregnancy Sub-registry.
- Study details: The study involves collecting data on medical history and, for the Pregnancy Sub-registry, additional information on pregnancy and infant growth.