Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms

• Conditions: Cardiac Conduction Defect Progressive; Congenital Complete Heart Block
• Interventions: Genetic: genetic blood analysis

• Registration Number: NCT02881671
• Lead Sponsor: Nantes University Hospital

Brief Summary

Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.

Detailed Description

Atrioventricular blocks are a heterogenous group of diseases involving children with congenital atrioventricular block (CAB) and more frequently elderly patients affected by progressive Cardiac Conduction Disease (PCCD).

The aim of the study is to uncover the genetic model, likely more complex than previously appreciated, and characterize the gene expression remodelling leading to high degree of conduction defect.

The recent technological developments in genomics coupled to the availability of large and highly characterized biobanks of patients have now set the stage:

1. To identify rare genetic variants/new genes contributing to CAB and PCCD by exome sequencing on familial form suspected to impact strongly the phenotype

2. To identify common genetic variants modulating the risk of developing (severe) PCCD by GWAS

3. To estimate the prevalence and relevance of genes uncovered by TASK#1, #2 in large patient sets (PCCD and CAB) by NGS.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2011-01
• Study First Submitted: 2016-08-24
• Study First Submitted QC: 2016-08-24
• Study First Posted: 2016-08-29
• Status Verified: 2021-09
• Last Update Submitted: 2021-09-08
• Last Update Posted: 2021-09-09
• Primary Completion: 2021-12
• Study Completion: 2021-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 2600

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
relatives with progressive Cardiac Conduction disesae	genetic blood analysis	Normal relatives of patients with progressive Cardiac Conduction Disease
Patients with congenital atrioventricular block	genetic blood analysis	Patient with congenital atrioventricular block
Patients with progressive Cardiac Conduction Disease	genetic blood analysis	Patients with progressive Cardiac Conduction Disease,
relatives with congenital atrioventricular block	genetic blood analysis	Normal relatives of patients with congenital atrioventricular block

Primary Outcome Measures

Name	Time	Method
Identification of genetic variations responsible of Atrioventricular Conduction Defects	inclusion

Trial Locations

Locations (2)

Chu Nantes; 🇫🇷 Nantes, France

Chu Rennes; 🇫🇷 Rennes, France