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Completed

NCT Number: NCT02112136

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

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.

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Key information

Conditions

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Abnormalities, Multiple Chronic Disease Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Diseases Kidney Diseases, Cystic Male Urogenital Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Renal Insufficiency Renal Insufficiency, Chronic Urogenital Diseases Urologic Diseases

Age range

16 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU Angers, Angers, France

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About this study

  • 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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood collection

Other

Phenotype and Genotype Analysis, Biological Analysis

Primary outcomes

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

    Time frame: 3 years

Sponsors and collaborators

Lead sponsor

University Hospital, Brest

Other

Registry information

Official study title

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

Acronym: GeneQuest

Important dates

Study start
2014
Primary completion
2020
Study completion
2020
First posted
Apr 11, 2014
Registry last updated
Mar 24, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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