Fabry Disease Registry & Pregnancy Sub-registry

I'm interested

Not specified
This study is NOT accepting healthy volunteers
Inclusion Criteria
• 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. Exclusion Criteria Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria.

Fabry Disease

alpha Galactosidase A, aGAL (alpha-galactosidase), Fabry, GL3 (globotriaosylceramide), Anderson-Fabry Disease, angiokeratomas, GLA deficiency (gene deficiency), errors in metabolism
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