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

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Clinical Trial

— GeneQuest  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02112136
• Other study ID #: RB14.017 GeneQuest
• Status: Completed
• Phase: N/A
• Start date: December 12, 2014
• Est. completion date: December 12, 2020

Study information

• Verified date: December 2020
• Source: University Hospital, Brest
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1450
• Est. completion date: December 12, 2020
• Est. primary completion date: December 12, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Arthrogryposis
• Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Kidney Diseases
• Polycystic Kidney Diseases
• Polycystic Kidney, Autosomal Dominant

Intervention

Other:
• Blood Collection
Phenotype and Genotype Analysis, Biological Analysis

Locations

Country	Name	City	State
France	CHU Angers	Angers
France	AUB Brest	Brest
France	Centre de néphrologie et de dialyse d'Armorique	Brest
France	CHRU Brest	Brest
France	CH Laval	Laval
France	CH du Mans	Le Mans
France	ECHO dialyse	Le Mans
France	Centre de dialyse de Lorient	Lorient
France	CH Bretagne Sud	Lorient
France	Hôpital Hôtel Dieu - CHU Nantes	Nantes
France	CH Niort	Niort
France	ECHO les Sables d'Olonne	Olonne sur Mer
France	Hôpital Jean Bernard - CHU Poitiers	Poitiers
France	CHCB site de Noyal Pontivy	Pontivy
France	AUB Santé	Quimper
France	CH Laënnec	Quimper
France	Hôpital Pontchaillou	Rennes
France	Echo Csmn	Rezé
France	Centre de Pérharidy	Roscoff
France	Hôpital Yves Le Foll	Saint Brieuc
France	ECHO Centre Ambulatoire	Saint Herblain
France	CH Saint Malo	Saint Malo
France	CH de Saint Nazaire	Saint Nazaire
France	Hôpital Bretonneau - CHU Tours	Tours
France	CH Bretagne Atlantique - Site de Vannes	Vannes

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Brest

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of patients/families with no mutations identified in PKD1 and PKD2 genes		3 years