Fabry Disease Registry & Pregnancy Sub-registry

The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician. The primary objectives of the Registry are: * To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease; * To assist the Fabry medical community with the development of recommendations for monitoring…

• * Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the informed consent and patient authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as a documented deficiency in plasma or leukocyte αGAL (alpha-galactosidase) enzyme activity and/or mutation(s) in the gene coding for αGAL. * Fabry Pregnancy Sub-registry: * Eligible women must: * be enrolled in the Fabry Registry. * be pregnant, or have been pregnant with appropriate medical documentation available. * provide a signed informed consent and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed.

Use the source registry for the full inclusion and exclusion criteria before discussing referral or enrolment.