Last updated on August 2020

Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD

Brief description of study

The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers).

Genome wide analysis will be performed in families without mutations identified.

Detailed Study Description

  • Inclusion of ADPKD patients in 20 different centers of Nephrology in the Western part of France
    • Characterization of the Phenotype
    • Collect DNA sample
    • Analysis of PKD1 and PKD2 genes first
    • Analysis of HNFIb and UMOD for PKD1 and PKD2 negative patients
    • Recruitment of affected and non-affected relatives of PKD1 and PKD2 negative ADPKD patients
    • Identify new genes involved in ADPKD using exome sequencing in PKD1 and PKD2 negative pedigrees

Clinical Study Identifier: NCT02112136

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Recruitment Status: Open

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