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

NCT02112136 | Completed DMC

• 1 other identifier: RB14.017 GeneQuest
• Study Type: interventional
• Target: 1,450
• Locations: 1 country
• Sites: 25

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.

Conditions

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Keywords

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

Outcome Measures

Primary Outcomes (1)

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

  3 years

Study Arms (1)

GeneQuest

OTHER

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

Other: Blood Collection

Interventions

Blood Collection OTHER

Phenotype and Genotype Analysis, Biological Analysis

GeneQuest

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients with a diagnosis of ADPKD
• 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

You may not qualify if:

• Subjects unable to provide written informed consent
• 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

Sponsors & Collaborators

• University Hospital, Brest: lead

Study Sites (25)

CHU Angers

Angers, 49933, France

Location

AUB Brest

Brest, 29200, France

Location

Centre de néphrologie et de dialyse d'Armorique

Brest, 29200, France

Location

CHRU Brest

Brest, 29609, France

Location

CH Laval

Laval, 53000, France

Location

CH du Mans

Le Mans, 72000, France

Location

ECHO dialyse

Le Mans, 72016, France

Location

Centre de dialyse de Lorient

Lorient, 56100, France

Location

CH Bretagne Sud

Lorient, 56100, France

Location

Hôpital Hôtel Dieu - CHU Nantes

Nantes, 44093, France

Location

CH Niort

Niort, 79021, France

Location

ECHO les Sables d'Olonne

Olonne-sur-Mer, 85109, France

Location

Hôpital Jean Bernard - CHU Poitiers

Poitiers, 86021, France

Location

CHCB site de Noyal Pontivy

Pontivy, 56306, France

Location

CH Laënnec

Quimper, 29000, France

Location

AUB Santé

Quimper, 2900, France

Location

Hôpital Pontchaillou

Rennes, 35033, France

Location

Echo Csmn

Rezé, 44402, France

Location

Centre de Pérharidy

Roscoff, 29680, France

Location

Hôpital Yves Le Foll

Saint-Brieuc, 22000, France

Location

ECHO Centre Ambulatoire

Saint-Herblain, 44821, France

Location

CH de Saint Nazaire

Saint-Nazaire, 44606, France

Location

CH Saint Malo

St-Malo, 35403, France

Location

Hôpital Bretonneau - CHU Tours

Tours, MD, France

Location

CH Bretagne Atlantique - Site de Vannes

Vannes, 56017, France

Location

Related Publications (1)

• 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.

  PMID: 35108395 DERIVED

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant; Renal Insufficiency, Chronic

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Emilie Cornec-Le Gall, MD

  CHRU de Brest

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 9, 2014
• First Posted: April 11, 2014
• Study Start: December 12, 2014
• Primary Completion: December 12, 2020
• Study Completion: December 12, 2020
• Last Updated: March 24, 2021

Record last verified: 2020-12

Data Sharing

• IPD Sharing: Will share
• Shared Documents: 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

Locations

FR (25)