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Observational Study of Kidney Disease in Fabry Disease

This study is looking at how Fabry disease affects the kidneys over time, specifically focusing on changes in kidney structure. Researchers want to understand how these structural changes relate to kidney function, like how well your kidneys filter waste (glomerular filtration rate or GFR) and how much protein is in your urine. They are also interested in how enzyme replacement therapy (ERT) might impact these changes. You could be eligible if you have Fabry disease and a doctor has decided you need a kidney biopsy, GFR, and urine tests, or if you've been in past studies that included these tests and biopsies. The study aims to identify early microscopic changes in the kidneys that lead to kidney problems. The current recruitment status is unclear.

Study design
This is an observational study, meaning researchers will watch and collect information without providing any specific intervention. It plans to enroll 50 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Kidney structural changes will be measured at baseline (before ERT), and then at 5, 11, and 60 months for those receiving ERT.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01581424

Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study

Recruiting
Not specifiedAges 1–75Observational
University of Minnesota
~50 participants
Updated 2026-08-14 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Natural History and Determinants of Renal Structural Responses (Changes) to Enzyme Replacement Therapy in Fabry Disease
Measured over Natural history component, cross sectional; ERT component, 5, 11, and 60 months

Conditions

Fabry Disease

Explore related trials

Fabry Disease

Where it's being run

2 sites across 1 states
Minnesota2

Study leadership

  • Chet Whitley, MD · PRINCIPAL_INVESTIGATOR · University of Minnesota
  • Michael Mauer, MD · PRINCIPAL_INVESTIGATOR · University of Minnesota

Who to contact

Michael Mauer, MD
[email protected]
612-626-2720
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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Patients diagnosed with Fabry disease who have/have not received enzyme replacement therapy where a clinical decision has been made to obtain a kidney biopsy, a GFR, and urinary albumin studies or where patients have previously completed clinical trials which included measures of renal function and renal biopsies.

Exclusion

Patients with serum creatinine more than 2.5 mg/dL or known to have a renal disease other than Fabry.

What this trial measures

  • Natural History and Determinants of Renal Structural Responses (Changes) to Enzyme Replacement Therapy in Fabry DiseaseNatural history component, cross sectional; ERT component, 5, 11, and 60 months

    Renal function measurements for the cross sectional natural history component will be urine protein excretion and measured/estimated GFR. Renal biopsies will provide estimates of the amount of GL-3 in various kidney structures. We will determine which structural parameter or composite of structural parameters is most closely associated with kidney function. For renal structural responses (changes) with ERT the primary outcome will the magnitude of reduction in podocyte GL-3 per glomerulus after (a)5 months, (b) 11 months, and (c) 60 months of ERT.