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

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2015 by University Hospital, Brest
Information provided by (Responsible Party):
University Hospital, Brest Identifier:
First received: April 9, 2014
Last updated: December 15, 2015
Last verified: December 2015

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.

Condition Intervention
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Other: Blood Collection

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study

Resource links provided by NLM:

Further study details as provided by University Hospital, Brest:

Primary Outcome Measures:
  • Number of patients/families with no mutations identified in PKD1 and PKD2 genes [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Estimated Enrollment: 1450
Study Start Date: December 2014
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
  • No drug will be administrated in this study
  • Blood collection
Other: Blood Collection
Phenotype and Genotype Analysis, Biological Analysis

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

Ages Eligible for Study:   16 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02112136

Contact: Emilie CORNEC - LE GALL, MD 298347061 ext +33

CHU Angers Recruiting
Angers, France, 49933
Contact: Jean-François Augusto, MD         
CHRU Brest Recruiting
Brest, France, 29609
Contact: Emilie CORNEC-LE GALL, MD         
AUB Brest Not yet recruiting
Brest, France, 29200
Contact: Marie-Paule GUILLODO-HAMELET         
Centre de néphrologie et de dialyse d'Armorique Not yet recruiting
Brest, France, 29200
Contact: Nassim TERKI-HASSAINE, MD         
CH du Mans Recruiting
Le Mans, France, 72000
ECHO dialyse Recruiting
Le Mans, France, 72016
Contact: Guillaume Seret, MD         
Centre de dialyse de Lorient Recruiting
Lorient, France, 56100
Contact: Didier Legrand, MD         
CH Bretagne Sud Recruiting
Lorient, France, 56100
Contact: Boblawinde Théophile Sawadogo, MD         
Hôpital Hôtel Dieu - CHU Nantes Not yet recruiting
Nantes, France, 44093
Contact: Maryvonne HOURMANT, MD         
CH Niort Not yet recruiting
Niort, France, 79021
Contact: Delphine LABATUT, PH         
ECHO les Sables d'Olonne Recruiting
Olonne sur Mer, France, 85109
Contact: Héléna BRIAND         
Hôpital Jean Bernard - CHU Poitiers Recruiting
Poitiers, France, 86021
Contact: Franck Bridoux, MD         
CHCB site de Noyal Pontivy Recruiting
Pontivy, France, 56306
Contact: Philippe Jousset, MD         
CH Laënnec Recruiting
Quimper, France, 29000
Contact: Bassem Wehbe, MD         
AUB Santé Not yet recruiting
Quimper, France, 2900
Contact: Seddick Benarbia, MD         
Hôpital Pontchaillou Recruiting
Rennes, France, 35033
Contact: Marie-Pascale Morin, MD         
Echo Csmn Not yet recruiting
Rezé, France, 44402
Contact: Gaëlle Lefrançois, MD         
Centre de Pérharidy Not yet recruiting
Roscoff, France, 29680
Contact: Sonia Mzoughi, MD         
Hôpital Yves Le Foll Recruiting
Saint Brieuc, France, 22000
Contact: Christophe Charasse, MD         
ECHO Centre Ambulatoire Not yet recruiting
Saint Herblain, France, 44821
Contact: Corneliu Malin Savoiu, MD         
CH Saint Malo Recruiting
Saint Malo, France, 35403
Contact: Eric Renaudineau, MD         
CH de Saint Nazaire Not yet recruiting
Saint Nazaire, France, 44606
Contact: Dominique Besnier, MD         
Hôpital Bretonneau - CHU Tours Recruiting
Tours, France, MD
Contact: Jean-Michel HALIMI, MD         
CH Bretagne Atlantique - Site de Vannes Recruiting
Vannes, France, 56017
Contact: Régine Perrichot, MD         
Sponsors and Collaborators
University Hospital, Brest
Principal Investigator: Emilie Cornec-Le Gall, MD CHRU de Brest
  More Information

No publications provided

Responsible Party: University Hospital, Brest Identifier: NCT02112136     History of Changes
Other Study ID Numbers: RB14.017 GeneQuest 
Study First Received: April 9, 2014
Last Updated: December 15, 2015
Health Authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé

Keywords provided by University Hospital, Brest:
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Renal cysts
Chronic Kidney Diseases

Additional relevant MeSH terms:
Kidney Diseases
Multicystic Dysplastic Kidney
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Congenital Abnormalities
Kidney Diseases, Cystic
Urogenital Abnormalities
Urologic Diseases processed this record on February 11, 2016