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CompletedNCT02112136GeneQuestUpdated Mar 24, 2021

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

An interventional study of Blood Collection in Autosomal Dominant Polycystic Kidney Disease (ADPKD), sponsored by University Hospital, Brest. Completed at 25 sites in France. Open to participants aged 16 Years and older. Per ClinicalTrials.gov, last updated 2021-03-24.

Sponsored by University Hospital, Brest · Not applicable, Interventional, and Diagnostic

Phase
Not applicable
Study type
Interventional
Enrollment
1,450
Allocation
Not applicable
Ages
16 Years and older
Sex
All
01

Study 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.

Read the 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
02

Conditions studied

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Keywords

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Renal cysts
  • Chronic Kidney Diseases
  • Genetic
03

Who can participate

Ages eligible
16 Years and older
Sexes eligible
All
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
04

Study design

Phase
Not applicable
Primary purpose
Diagnostic
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
1,450 participants (actual)

Study arms

  • Other
    GeneQuest

    * No drug will be administrated in this study * Blood collection

    Other: Blood Collection

Interventions

  • OtherBlood Collection

    Phenotype and Genotype Analysis, Biological Analysis

05

What researchers measure

Primary outcomes

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

    Time frame: 3 years

06

Study locations

25 sites
  • CHU Angers
    Angers, 49933, France
  • AUB Brest
    Brest, 29200, France
  • Centre de néphrologie et de dialyse d'Armorique
    Brest, 29200, France
  • CHRU Brest
    Brest, 29609, France
  • CH Laval
    Laval, 53000, France
  • CH du Mans
    Le Mans, 72000, France
  • ECHO dialyse
    Le Mans, 72016, France
  • Centre de dialyse de Lorient
    Lorient, 56100, France
  • CH Bretagne Sud
    Lorient, 56100, France
  • Hôpital Hôtel Dieu - CHU Nantes
    Nantes, 44093, France
  • CH Niort
    Niort, 79021, France
  • ECHO les Sables d'Olonne
    Olonne sur Mer, 85109, France
  • Hôpital Jean Bernard - CHU Poitiers
    Poitiers, 86021, France
  • CHCB site de Noyal Pontivy
    Pontivy, 56306, France
  • CH Laënnec
    Quimper, 29000, France
  • AUB Santé
    Quimper, 2900, France
  • Hôpital Pontchaillou
    Rennes, 35033, France
  • Echo Csmn
    Rezé, 44402, France
  • Centre de Pérharidy
    Roscoff, 29680, France
  • Hôpital Yves Le Foll
    Saint Brieuc, 22000, France
  • ECHO Centre Ambulatoire
    Saint Herblain, 44821, France
  • CH Saint Malo
    Saint Malo, 35403, France
  • CH de Saint Nazaire
    Saint Nazaire, 44606, France
  • Hôpital Bretonneau - CHU Tours
    Tours, MD, France
  • CH Bretagne Atlantique - Site de Vannes
    Vannes, 56017, France
07

References and documents

Publications

  • 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. PubMed 35108395 ↗

Individual participant data

Plan to share: Yes — All collected data that underlie results in a publication

Supporting information: Study protocol

08

Registry details

Key details

Study ID
NCT02112136
Lead sponsor
University Hospital, Brest
Responsible party
Sponsor
First posted
Apr 11, 2014
Start date
Dec 12, 2014
Primary completion
Dec 12, 2020
Completion
Dec 12, 2020
Last update
Mar 24, 2021

Study contacts

Emilie Cornec-Le Gall, MD
principal investigator · CHRU de Brest

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

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