Evaluation of a Screening Strategy of Fabry Disease in Patient With Renal Biopsy

Launched by UNIVERSITY HOSPITAL, ANGERS · Mar 8, 2019

Keywords

ClinConnect Summary

This clinical trial is investigating a new method to identify Fabry disease in patients who have kidney problems but whose condition remains unclear even after a kidney biopsy. Fabry disease is a rare genetic disorder that can lead to serious kidney damage, and early detection is important for treatment. Researchers believe that by screening patients with certain types of unexplained kidney issues, they may find cases of Fabry disease that would otherwise go unnoticed.

To be eligible for this study, participants need to be adults over 18 years old who agree to take part. They should have kidney problems that have not been clearly diagnosed despite a biopsy, such as chronic tubulointerstitial nephropathy or glomerulosclerosis. Those who have already been screened for Fabry disease or have specific kidney conditions will not be included. Participants can expect to provide a small blood sample for testing and will help improve our understanding of how to better identify Fabry disease in patients with kidney issues.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Adult patient (\> 18 years old)
• • Obtaining consent to participate in the study
• * Patients whose clinical presentation meets at least one of the following criteria:
• • Undetermined nephropathy despite renal biopsy,
• • Nephroangiosclerosis as the predominant lesion
• • Chronic tubulointerstitial nephropathy,
• • Glomerulosclerosis,
• • Segmental and focal hyalinosis.
• • Optically normal kidney or seat of minimal lesions
• Exclusion Criteria:
• • Patient who has already been screened for Fabry Disease
• * At least one of the following criteria:
• • Nephrotic syndrome and/or Glomerular nephropathy
• • Histological diagnosis of certain nephropathies (specific kidney lesions)