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

Primary Purpose

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Blood Collection
Sponsored by
University Hospital, Brest
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Autosomal Dominant Polycystic Kidney Disease (ADPKD) focused on measuring Autosomal Dominant Polycystic Kidney Disease (ADPKD), Renal cysts, Chronic Kidney Diseases, Genetic

Eligibility Criteria

16 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • CHU Angers
  • AUB Brest
  • Centre de néphrologie et de dialyse d'Armorique
  • CHRU Brest
  • CH Laval
  • CH du Mans
  • ECHO dialyse
  • Centre de dialyse de Lorient
  • CH Bretagne Sud
  • Hôpital Hôtel Dieu - CHU Nantes
  • CH Niort
  • ECHO les Sables d'Olonne
  • Hôpital Jean Bernard - CHU Poitiers
  • CHCB site de Noyal Pontivy
  • CH Laënnec
  • AUB Santé
  • Hôpital Pontchaillou
  • Echo Csmn
  • Centre de Pérharidy
  • Hôpital Yves Le Foll
  • ECHO Centre Ambulatoire
  • CH Saint Malo
  • CH de Saint Nazaire
  • Hôpital Bretonneau - CHU Tours
  • CH Bretagne Atlantique - Site de Vannes

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

GeneQuest

Arm Description

No drug will be administrated in this study Blood collection

Outcomes

Primary Outcome Measures

Number of patients/families with no mutations identified in PKD1 and PKD2 genes

Secondary Outcome Measures

Full Information

First Posted
April 9, 2014
Last Updated
March 23, 2021
Sponsor
University Hospital, Brest
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1. Study Identification

Unique Protocol Identification Number
NCT02112136
Brief Title
Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
Acronym
GeneQuest
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

2. Study Status

Record Verification Date
December 2020
Overall Recruitment Status
Completed
Study Start Date
December 12, 2014 (Actual)
Primary Completion Date
December 12, 2020 (Actual)
Study Completion Date
December 12, 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Brest

4. Oversight

Data Monitoring Committee
Yes

5. Study Description

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

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Keywords
Autosomal Dominant Polycystic Kidney Disease (ADPKD), Renal cysts, Chronic Kidney Diseases, Genetic

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
1450 (Actual)

8. Arms, Groups, and Interventions

Arm Title
GeneQuest
Arm Type
Other
Arm Description
No drug will be administrated in this study Blood collection
Intervention Type
Other
Intervention Name(s)
Blood Collection
Intervention Description
Phenotype and Genotype Analysis, Biological Analysis
Primary Outcome Measure Information:
Title
Number of patients/families with no mutations identified in PKD1 and PKD2 genes
Time Frame
3 years

10. Eligibility

Sex
All
Minimum Age & Unit of Time
16 Years
Accepts Healthy Volunteers
No
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Emilie Cornec-Le Gall, MD
Organizational Affiliation
CHRU de Brest
Official's Role
Principal Investigator
Facility Information:
Facility Name
CHU Angers
City
Angers
ZIP/Postal Code
49933
Country
France
Facility Name
AUB Brest
City
Brest
ZIP/Postal Code
29200
Country
France
Facility Name
Centre de néphrologie et de dialyse d'Armorique
City
Brest
ZIP/Postal Code
29200
Country
France
Facility Name
CHRU Brest
City
Brest
ZIP/Postal Code
29609
Country
France
Facility Name
CH Laval
City
Laval
ZIP/Postal Code
53000
Country
France
Facility Name
CH du Mans
City
Le Mans
ZIP/Postal Code
72000
Country
France
Facility Name
ECHO dialyse
City
Le Mans
ZIP/Postal Code
72016
Country
France
Facility Name
Centre de dialyse de Lorient
City
Lorient
ZIP/Postal Code
56100
Country
France
Facility Name
CH Bretagne Sud
City
Lorient
ZIP/Postal Code
56100
Country
France
Facility Name
Hôpital Hôtel Dieu - CHU Nantes
City
Nantes
ZIP/Postal Code
44093
Country
France
Facility Name
CH Niort
City
Niort
ZIP/Postal Code
79021
Country
France
Facility Name
ECHO les Sables d'Olonne
City
Olonne sur Mer
ZIP/Postal Code
85109
Country
France
Facility Name
Hôpital Jean Bernard - CHU Poitiers
City
Poitiers
ZIP/Postal Code
86021
Country
France
Facility Name
CHCB site de Noyal Pontivy
City
Pontivy
ZIP/Postal Code
56306
Country
France
Facility Name
CH Laënnec
City
Quimper
ZIP/Postal Code
29000
Country
France
Facility Name
AUB Santé
City
Quimper
ZIP/Postal Code
2900
Country
France
Facility Name
Hôpital Pontchaillou
City
Rennes
ZIP/Postal Code
35033
Country
France
Facility Name
Echo Csmn
City
Rezé
ZIP/Postal Code
44402
Country
France
Facility Name
Centre de Pérharidy
City
Roscoff
ZIP/Postal Code
29680
Country
France
Facility Name
Hôpital Yves Le Foll
City
Saint Brieuc
ZIP/Postal Code
22000
Country
France
Facility Name
ECHO Centre Ambulatoire
City
Saint Herblain
ZIP/Postal Code
44821
Country
France
Facility Name
CH Saint Malo
City
Saint Malo
ZIP/Postal Code
35403
Country
France
Facility Name
CH de Saint Nazaire
City
Saint Nazaire
ZIP/Postal Code
44606
Country
France
Facility Name
Hôpital Bretonneau - CHU Tours
City
Tours
ZIP/Postal Code
MD
Country
France
Facility Name
CH Bretagne Atlantique - Site de Vannes
City
Vannes
ZIP/Postal Code
56017
Country
France

12. IPD Sharing Statement

Plan to Share IPD
Yes
IPD Sharing Plan Description
All collected data that underlie results in a publication
IPD Sharing Time Frame
Data will be available beginning one year and ending fifteen years following the final study report completion
IPD Sharing Access Criteria
Data access will be reviewed by the internal committee of Brest UH. Requestors will be required to sign and complete a data access agreement
Citations:
PubMed Identifier
35108395
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.
Results Reference
derived

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

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