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

NCT ID: NCT02881671

Last Updated: 2021-09-09

Study Results

Results pending

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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Recruitment Status

UNKNOWN

Total Enrollment

2600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-01-31

Study Completion Date

2021-12-31

Brief Summary

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

Detailed Description

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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.

Conditions

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Congenital Complete Heart Block Cardiac Conduction Defect Progressive

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with congenital atrioventricular block

Patient with congenital atrioventricular block

genetic blood analysis

Intervention Type GENETIC

patients will undergo a blood sample (15 ml) to analyse their genetic profile

relatives with congenital atrioventricular block

Normal relatives of patients with congenital atrioventricular block

genetic blood analysis

Intervention Type GENETIC

patients will undergo a blood sample (15 ml) to analyse their genetic profile

Patients with progressive Cardiac Conduction Disease

Patients with progressive Cardiac Conduction Disease,

genetic blood analysis

Intervention Type GENETIC

patients will undergo a blood sample (15 ml) to analyse their genetic profile

relatives with progressive Cardiac Conduction disesae

Normal relatives of patients with progressive Cardiac Conduction Disease

genetic blood analysis

Intervention Type GENETIC

patients will undergo a blood sample (15 ml) to analyse their genetic profile

Interventions

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genetic blood analysis

patients will undergo a blood sample (15 ml) to analyse their genetic profile

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Patients with idiopathic congenital atrioventricular block diagnosed before the age of 15 years.
* Non-immune congenital atrioventricular block documented by a maternal serology (negative for anti-nuclear antibodies or anti Ro-SSA antibodies and anti La-SSB antibodies)
* Written consent to participate to the study and written consent of both parents.
* Parents of children with idiopathic congenital atrioventricular block.


* Patients with isolated cardiac conduction disorder with a normal morphology of the heart confirmed by echocardiography.
* Relatives of patients with isolated cardiac conduction disorder
* Written consent to participate to the study

Exclusion Criteria

* Positive maternal serology
* Patients or parents who are unable to sign or who refuse to sign an informed consent


* Patients with cardiac conduction disorder associated with a structural cardiopathy or due to an identified cause
* Patients who are unable to sign or who refuse to sign an informed consent
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Nantes University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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vincent PROBST, MD-PHD

Role: PRINCIPAL_INVESTIGATOR

Nantes University Hospital

Locations

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Chu Nantes

Nantes, , France

Site Status RECRUITING

Chu Rennes

Rennes, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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vincent PROBST, MD-PHD

Role: CONTACT

Facility Contacts

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VINCENT PROBST, MD-PHD

Role: primary

PHILIPPE MABO, MD-PHD

Role: primary

Other Identifiers

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PROG/11/33

Identifier Type: -

Identifier Source: org_study_id

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