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FABRY Disease Registry

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The Rare Disease Registry Program (including but not limited to, Gaucher, Fabry, MPS I, and Pompe diseases) is a multi-center, international, longitudinal, observational program that tracks the natural history and outcomes of patients with these rare diseases.

  • Sex at Birth: Any
  • Age: Child (Birth - 17), Adult (18 - 64), Older Adult (65+)
  • Accepting Healthy People: No
  • Type: Registry
  • Trial Phase: NA
  • Conditions Being Studied: Fabry Disease

Study Purpose

Fabry disease is a rare X-linked lysosomal storage disorder that results from mutations in the gene encoding the lysosomal hydrolase, a-galactosidase A (aGAL). This is a research study that collects medical information on people with Fabry disease around the world.

Principal Investigator
Laura Konczal MD
Department/Division
Genetics (General)

Locations

UH Cleveland Medical Center
11100 Euclid Avenue
Cleveland OH, 44106

  • UH IRB: STUDY20200704
  • StudyID: 2021-0538
  • ClinicalTrials.gov: NCT00196742
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