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

Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT02112136

Acronym

GeneQuest

Enrollment

1450

Registered

2014-04-11

Start date

2014-12-12

Completion date

2020-12-12

Last updated

2021-03-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Keywords

Autosomal Dominant Polycystic Kidney Disease (ADPKD), Renal cysts, Chronic Kidney Diseases, Genetic

Brief summary

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 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

Interventions

OTHERBlood Collection

Phenotype and Genotype Analysis, Biological Analysis

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

DIAGNOSTIC

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

16 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
Number of patients/families with no mutations identified in PKD1 and PKD2 genes	3 years

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026