Ignite Creation Date:
2024-05-06 @ 2:45 AM
Last Modification Date:
2024-10-26 @ 11:22 AM
Study NCT ID:
NCT02112136
Status:
COMPLETED
Last Update Posted:
2021-03-24
First Post:
2014-04-09
Brief Title:
Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
Sponsor:
University Hospital Brest
Organization:
University Hospital Brest
Study Overview
Official Title:
Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease ADPKD The GeneQuest Study
Status:
COMPLETED
Status Verified Date:
2020-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GeneQuest
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
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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None