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Trial record 1 of 3 for:    "Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease"
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Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD (GeneQuest)

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ClinicalTrials.gov Identifier: NCT02112136
Recruitment Status : Recruiting
First Posted : April 11, 2014
Last Update Posted : April 17, 2019
Sponsor:
Information provided by (Responsible Party):
University Hospital, Brest

Tracking Information
First Submitted Date  ICMJE April 9, 2014
First Posted Date  ICMJE April 11, 2014
Last Update Posted Date April 17, 2019
Actual Study Start Date  ICMJE December 12, 2014
Estimated Primary Completion Date December 12, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: April 9, 2014)
Number of patients/families with no mutations identified in PKD1 and PKD2 genes [ Time Frame: 3 years ]
Original Primary Outcome Measures  ICMJE Same as current
Change History Complete list of historical versions of study NCT02112136 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
Official Title  ICMJE Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study
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
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Condition  ICMJE Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Intervention  ICMJE Other: Blood Collection
Phenotype and Genotype Analysis, Biological Analysis
Study Arms  ICMJE GeneQuest
  • No drug will be administrated in this study
  • Blood collection
Intervention: Other: Blood Collection
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: April 9, 2014)
1450
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE December 12, 2019
Estimated Primary Completion Date December 12, 2019   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 16 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE
Contact: Emilie CORNEC - LE GALL, MD 298347061 ext +33 emilie.cornec-legall@chu-brest.fr
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT02112136
Other Study ID Numbers  ICMJE RB14.017 GeneQuest
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE
Plan to Share IPD: Yes
Plan Description: All collected data that underlie results in a publication
Supporting Materials: Study Protocol
Time Frame: Data will be available beginning one year and ending fifteen years following the final study report completion
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
Responsible Party University Hospital, Brest
Study Sponsor  ICMJE University Hospital, Brest
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Emilie Cornec-Le Gall, MD CHRU de Brest
PRS Account University Hospital, Brest
Verification Date April 2019

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP