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

NCT02112136 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 1450

Last updated 2021-03-24

No results posted yet for this 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.

Conditions

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Interventions

OTHER

Blood Collection

Phenotype and Genotype Analysis, Biological Analysis

Sponsors & Collaborators

  • University Hospital, Brest

    lead OTHER

Principal Investigators

  • Emilie Cornec-Le Gall, MD · CHRU de Brest

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
16 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-12-12
Primary Completion
2020-12-12
Completion
2020-12-12

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02112136 on ClinicalTrials.gov