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

March 23, 2021 updated by: University Hospital, Brest

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

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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

Study Type

Interventional

Enrollment (Actual)

1450

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Angers, France, 49933
        • Chu Angers
      • Brest, France, 29609
        • CHRU Brest
      • Brest, France, 29200
        • AUB Brest
      • Brest, France, 29200
        • Centre de néphrologie et de dialyse d'Armorique
      • Laval, France, 53000
        • CH Laval
      • Le Mans, France, 72000
        • CH du Mans
      • Le Mans, France, 72016
        • ECHO dialyse
      • Lorient, France, 56100
        • CH Bretagne Sud
      • Lorient, France, 56100
        • Centre de dialyse de Lorient
      • Nantes, France, 44093
        • Hôpital Hôtel Dieu - CHU Nantes
      • Niort, France, 79021
        • CH Niort
      • Olonne sur Mer, France, 85109
        • ECHO les Sables d'Olonne
      • Poitiers, France, 86021
        • Hôpital Jean Bernard - CHU Poitiers
      • Pontivy, France, 56306
        • CHCB site de Noyal Pontivy
      • Quimper, France, 29000
        • CH Laennec
      • Quimper, France, 2900
        • Aub Sante
      • Rennes, France, 35033
        • Hôpital Pontchaillou
      • Rezé, France, 44402
        • Echo Csmn
      • Roscoff, France, 29680
        • Centre de Perharidy
      • Saint Brieuc, France, 22000
        • Hôpital Yves Le Foll
      • Saint Herblain, France, 44821
        • ECHO Centre Ambulatoire
      • Saint Malo, France, 35403
        • CH Saint Malo
      • Saint Nazaire, France, 44606
        • CH de Saint Nazaire
      • Tours, France, MD
        • Hôpital Bretonneau - CHU Tours
      • Vannes, France, 56017
        • Ch Bretagne Atlantique - site de Vannes

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: DIAGNOSTIC
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
OTHER: GeneQuest
  • No drug will be administrated in this study
  • Blood collection
Other: Blood Collection
Phenotype and Genotype Analysis, Biological Analysis

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Brest

Investigators

  • Principal Investigator: Emilie Cornec-Le Gall, MD, CHRU de Brest

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

December 12, 2014

Primary Completion (ACTUAL)

December 12, 2020

Study Completion (ACTUAL)

December 12, 2020

Study Registration Dates

First Submitted

April 9, 2014

First Submitted That Met QC Criteria

April 9, 2014

First Posted (ESTIMATE)

April 11, 2014

Study Record Updates

Last Update Posted (ACTUAL)

March 24, 2021

Last Update Submitted That Met QC Criteria

March 23, 2021

Last Verified

December 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RB14.017 GeneQuest

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

All collected data that underlie results in a publication

IPD Sharing Time Frame

Data will be available beginning one year and ending fifteen years following the final study report completion

IPD Sharing Access Criteria

Data access will be reviewed by the internal committee of Brest UH. Requestors will be required to sign and complete a data access agreement

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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