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

University Hospital, Brest1,450 enrolled

Overview

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.

* 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

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

1,450

Conditions

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Interventions

Blood CollectionOTHER

Phenotype and Genotype Analysis, Biological Analysis

Eligibility

Sex: ALLMin age: 16 Years

Medical Language ↔ Plain English

Inclusion Criteria for the proband : * Patients with a diagnosis of ADPKD * Written Informed Consent * Affiliated or benefiting from a national insurance Inclusion Criteria of the relatives (affected or non affected) : * Relatives with a diagnosis of ADPKD (ADPKD relatives) * And Relatives over age 30 for whom the diagnosis of ADPKD has been discarded (non ADPKD relatives) with renal ultrasonography performed after age 30. * Written Informed consent * Affiliated or benefiting from a national insurance Exclusion Criteria for the Probands: * Subjects unable to provide written informed consent * Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation Exclusion criteria for the Relatives: * Subjects unable to provide written informed consent * Age under 30 for the "non-affected" relatives

Locations (25)

CHU Angers

Angers, France

AUB Brest

Brest, France

Outcomes

Primary Outcomes

Number of patients/families with no mutations identified in PKD1 and PKD2 genes

Time frame: 3 years

Data from ClinicalTrials.gov

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