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

Not Applicable

Completed

• Conditions: Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Interventions: Other: Blood Collection

• Registration Number: NCT02112136
• Lead Sponsor: University Hospital, Brest

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

Study Timeline

• Study First Submitted: 2014-04-09
• Study First Submitted QC: 2014-04-09
• Study First Posted: 2014-04-11
• Study Start: 2014-12-12
• Status Verified: 2020-12
• Primary Completion: 2020-12-12
• Study Completion: 2020-12-12
• Last Update Submitted: 2021-03-23
• Last Update Posted: 2021-03-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1450

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
GeneQuest	Blood Collection	* No drug will be administrated in this study * Blood collection

Primary Outcome Measures

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

Trial Locations

Locations (25)

CH du Mans; 🇫🇷 Le Mans, France

Hôpital Jean Bernard - CHU Poitiers; 🇫🇷 Poitiers, France

CH de Saint Nazaire; 🇫🇷 Saint Nazaire, France

CH Niort; 🇫🇷 Niort, France

ECHO les Sables d'Olonne; 🇫🇷 Olonne sur Mer, France

Hôpital Hôtel Dieu - CHU Nantes; 🇫🇷 Nantes, France

Hôpital Pontchaillou; 🇫🇷 Rennes, France

ECHO Centre Ambulatoire; 🇫🇷 Saint Herblain, France

CHU Angers; 🇫🇷 Angers, France

AUB Brest; 🇫🇷 Brest, France

ECHO dialyse; 🇫🇷 Le Mans, France

CHRU Brest; 🇫🇷 Brest, France

CH Bretagne Sud; 🇫🇷 Lorient, France

Centre de dialyse de Lorient; 🇫🇷 Lorient, France

Echo Csmn; 🇫🇷 Rezé, France

Centre de Pérharidy; 🇫🇷 Roscoff, France

CH Laval; 🇫🇷 Laval, France

Centre de néphrologie et de dialyse d'Armorique; 🇫🇷 Brest, France

CHCB site de Noyal Pontivy; 🇫🇷 Pontivy, France

CH Laënnec; 🇫🇷 Quimper, France

AUB Santé; 🇫🇷 Quimper, France

Hôpital Yves Le Foll; 🇫🇷 Saint Brieuc, France

CH Saint Malo; 🇫🇷 Saint Malo, France

Hôpital Bretonneau - CHU Tours; 🇫🇷 Tours, France

CH Bretagne Atlantique - Site de Vannes; 🇫🇷 Vannes, France