Clinical Trial: Hereditary Tubulointerstitial Nephritis

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases

Brief Summary: The aim of this study is to identify families with hereditary chronic tubulointerstitial renal diseases , characterize the phenotype and screen for mutations in known genesis (UMOD, REN, TCF2, NPHP1). Genome wide analysis will be performed in families without mutations identified.

Detailed Summary:

  • Inclusion of affected subjects with familial history of chronic renal failure, early gout ,renal cysts in several hospital in France
  • Characterization of the phenotype; dosage of the urinary uromodulin in all subjects
  • Collect DNA samples
  • Screen for UMO mutations first
  • Then for REN or TCF2 depending on the phenotype
  • Validate the use of the dosage of urinary uromodulin for the diagnosis of UMOD associated disease.
  • Identify new genes responsible for hereditary HTIN (Hereditary Tubulointerstitial Nephritis).

Sponsor: Assistance Publique - Hôpitaux de Paris

Current Primary Outcome: Genotype of HTIN [ Time Frame: after 18 months ]

Number of patients/families with mutations in known genes responsible for HTIN


Original Primary Outcome: NTIC phenotype-genotype correlations [ Time Frame: after 18 months ]

Current Secondary Outcome: Uromodulin dosage in urine [ Time Frame: at 18 months ]

Original Secondary Outcome:

Information By: Assistance Publique - Hôpitaux de Paris

Dates:
Date Received: February 22, 2011
Date Started: November 2010
Date Completion:
Last Updated: August 25, 2016
Last Verified: January 2016