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

This study is not yet open for participant recruitment. (see Contacts and Locations)
Verified April 2014 by University Hospital, Brest
Information provided by (Responsible Party):
University Hospital, Brest Identifier:
First received: April 9, 2014
Last updated: NA
Last verified: April 2014
History: No changes posted

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: June 2014
Estimated Study Completion Date: June 2017
Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
No Intervention: GeneQuest
  • This is an observational study, no drug will be administrated
  • 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
Angers, France, 49933
Centre de néphrologie et de dialyse d'Armorique
Brest, France, 29200
AUB Brest
Brest, France, 29200
CH du Mans
Le Mans, France, 72000
CH Bretagne Sud
Lorient, France, 56100
Centre de dialyse de Lorient
Lorient, France, 56100
Hôpital Hôtel Dieu - CHU Nantes
Nantes, France, 44093
Hôpital Jean Bernard - CHU Poitiers
Poitiers, France, 86021
CHCB site de Noyal Pontivy
Pontivy, France, 56306
CH Laënnec
Quimper, France, 29000
AUB Santé
Quimper, France, 2900
Hôpital Pontchaillou
Rennes, France, 35033
Echo Csmn
Rezé, France, 44402
Centre de Pérharidy
Roscoff, France, 29680
Hôpital Yves Le Foll
Saint Brieuc, France, 22000
ECHO Centre Ambulatoire
Saint Herblain, France, 44821
CH Saint Malo
Saint Malo, France, 35403
CH de Saint Nazaire
Saint Nazaire, France, 44606
Hôpital Bretonneau - CHU Tours
Tours, France, MD
CH Bretagne Atlantique - Site de Vannes
Vannes, France, 56017
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: April 9, 2014
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 October 23, 2014