Clinical trial NCT02112136: Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
Official title: Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Keywords: Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Renal cysts
Chronic Kidney Diseases
Genetic
Lead sponsor: University Hospital, Brest
Sponsor class: OTHER
First posted: 2014-04-11
Enrollment: 1450
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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

Eligibility criteria: 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

Primary outcomes:
measure: Number of patients/families with no mutations identified in PKD1 and PKD2 genes
timeFrame: 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU Angers
city: Brest
country: France
facility: AUB Brest
city: Brest
country: France
facility: Centre de néphrologie et de dialyse d'Armorique
city: Brest
country: France
facility: CHRU Brest
city: Laval
country: France
facility: CH Laval
city: Le Mans
country: France
facility: CH du Mans
city: Le Mans
country: France
facility: ECHO dialyse
city: Lorient
country: France
facility: Centre de dialyse de Lorient
city: Lorient
country: France
facility: CH Bretagne Sud
city: Nantes
country: France
facility: Hôpital Hôtel Dieu - CHU Nantes
city: Niort
country: France
facility: CH Niort
city: Olonne sur Mer
country: France
facility: ECHO les Sables d'Olonne
city: Poitiers
country: France
facility: Hôpital Jean Bernard - CHU Poitiers
city: Pontivy
country: France
facility: CHCB site de Noyal Pontivy
city: Quimper
country: France
facility: CH Laënnec
city: Quimper
country: France
facility: AUB Santé
city: Rennes
country: France
facility: Hôpital Pontchaillou
city: Rezé
country: France
facility: Echo Csmn
city: Roscoff
country: France
facility: Centre de Pérharidy
city: Saint Brieuc
country: France
facility: Hôpital Yves Le Foll
city: Saint Herblain
country: France
facility: ECHO Centre Ambulatoire
city: Saint Malo
country: France
facility: CH Saint Malo
city: Saint Nazaire
country: France
facility: CH de Saint Nazaire
city: Tours
country: France
facility: Hôpital Bretonneau - CHU Tours
city: Vannes
country: France
facility: CH Bretagne Atlantique - Site de Vannes
Study officials:
affiliation: CHRU de Brest
name: Emilie Cornec-Le Gall, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Lefevre S, Audrezet MP, Halimi JM, Longuet H, Bridoux F, Ecotiere L, Augusto JF, Duveau A, Renaudineau E, Vigneau C, Frouget T, Charasse C, Gueguen L, Perrichot R, Couvrat G, Seret G, Le Meur Y, Cornec-Le Gall E; Genkyst Study Group. Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort. Nephrol Dial Transplant. 2022 Oct 19;37(11):2223-2233. doi: 10.1093/ndt/gfac027.