Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
NCT ID: NCT02112136
Last Updated: 2021-03-24
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
NA
1450 participants
INTERVENTIONAL
2014-12-12
2020-12-12
Brief Summary
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Genome wide analysis will be performed in families without mutations identified.
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Detailed Description
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* 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
Conditions
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Study Design
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NA
SINGLE_GROUP
DIAGNOSTIC
NONE
Study Groups
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GeneQuest
* No drug will be administrated in this study
* Blood collection
Blood Collection
Phenotype and Genotype Analysis, Biological Analysis
Interventions
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Blood Collection
Phenotype and Genotype Analysis, Biological Analysis
Eligibility Criteria
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Inclusion Criteria
* Written Informed Consent
* Affiliated or benefiting from a national insurance
* 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
* Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation
* Subjects unable to provide written informed consent
* Age under 30 for the "non-affected" relatives
16 Years
ALL
No
Sponsors
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University Hospital, Brest
OTHER
Responsible Party
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Principal Investigators
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Emilie Cornec-Le Gall, MD
Role: PRINCIPAL_INVESTIGATOR
CHRU de Brest
Locations
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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
CH Niort
Niort, , France
ECHO les Sables d'Olonne
Olonne-sur-Mer, , France
Hôpital Jean Bernard - CHU Poitiers
Poitiers, , France
CHCB site de Noyal Pontivy
Pontivy, , France
CH Laënnec
Quimper, , France
AUB Santé
Quimper, , France
Hôpital Pontchaillou
Rennes, , France
Echo Csmn
Rezé, , France
Centre de Pérharidy
Roscoff, , France
Hôpital Yves Le Foll
Saint-Brieuc, , France
ECHO Centre Ambulatoire
Saint-Herblain, , France
CH de Saint Nazaire
Saint-Nazaire, , France
CH Saint Malo
St-Malo, , France
Hôpital Bretonneau - CHU Tours
Tours, , France
CH Bretagne Atlantique - Site de Vannes
Vannes, , France
Countries
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References
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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.
Other Identifiers
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RB14.017 GeneQuest
Identifier Type: -
Identifier Source: org_study_id
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