Determinants of Renal Structural Responses to Enzyme Replacement Therapy (ERT) in Fabry Disease Study


The effect of enzyme replacement therapy on how well your kidneys are responding to enzyme replacement therapy (ERT) is not clear from blood and urine tests alone, but may be more clear in comparisons of kidney biopsies performed before and some time after ERT has been initiated, and this is what we are focusing our study efforts on. The purpose of this study is to obtain your permission to allow us to study the kidney biopsy tissues (collected for medical reasons) after the regular routine studies have been completed. Through our special research measurements and additional study, we hope to be able to see and measure very specific changes in the kidney tissues from Fabry patients taking ERT. We also hope that through these studies of what happens within the kidney before and after starting ERT, we are able to reveal valuable information about the importance of factors like your age that you started ERT, the amount or dosage of ERT, and any differences seen between males and females.

I'm interested

1 Year to 75 Years old
This study is NOT accepting healthy volunteers
Inclusion Criteria:

• 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 Criteria:

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

Fabry Disease

Fabry disease, kidney function, kidney structure morphometry, Fabry kidney disease, Podocytes

Michael Mauer -
Michael Mauer
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