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Study Description

Fabry disease is a rare genetic disease with deficient activity of an enzyme, which leads to accumulation of inclusions in different organs including kidney, heart and vessels. The purpose of the study is to conduct a cross-sectional investigation of the natural history of Fabry renal disease and measure renal function and renal structure in male and female Fabry's patients. The study will utilize the resultant cross-sectional information to determine the renal structural parameters or composite of parameters that most closely relates to the onset and progression of clinical renal disease in Fabry patients.

This is an observational, cross-sectional study of 60 individuals with Fabry disease. Those participating in the study will be evaluated during a one day visit and on a PRN basis. The primary study objectives are as follows:

  1. To study the natural history of Fabry renal disease and measure renal function and renal structure in male and female Fabry's patients. These patients would encompass the broad age range from childhood to adulthood and from normal renal function to moderate renal insufficiency [serum creatinine (SCr) ≤ 2.5mg/dl (chronic kidney disease or CKD3)].
  2. To utilize the resultant cross-sectional information to determine the renal structural parameters or composite of parameters that most closely relates to the onset and progression of clinical renal disease in Fabry patients.

  • Study Weblink: Lysosomal Disease Network
  • Study Types: Longitudinal, Observational, Cross-Sectional
  • Number of study subjects that have individual level data available through Authorized Access: 15

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Inclusion criteria:

  • Subjects with a diagnosis of Fabry who have consented to having a GFR and may have a kidney biopsy in the future as part of their clinical work up. Patients with GFR estimates (e.g. serum creatinine) would also be included.

Exclusion Criteria:

  • Individuals are excluded from the Fabry study if any of the following Exclusion criteria exist, or unless otherwise determined by one of the study PI's:
    • Unwilling/unable to give informed consent, or sign the assent (if applicable) and parental consent
    • Presence of other kidney diseases

Study History

  • Study Activated January 25,2011
  • First Accrual April 26, 2011

Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution