Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
- Conditions
- Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Registration Number
- NCT02112136
- Lead Sponsor
- University Hospital, Brest
- 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
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 1450
Not provided
Not provided
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Primary Outcome Measures
Name Time Method Number of patients/families with no mutations identified in PKD1 and PKD2 genes 3 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (25)
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
Scroll for more (15 remaining)CHU Angers🇫🇷Angers, France