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

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ClinicalTrials.gov Identifier: NCT02881671
Recruitment Status : Recruiting
First Posted : August 29, 2016
Last Update Posted : September 9, 2021
Sponsor:
Information provided by (Responsible Party):
Nantes University Hospital

Study Description
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Brief Summary:
Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.

Condition or disease Intervention/treatment
Congenital Complete Heart Block Cardiac Conduction Defect Progressive Genetic: genetic blood analysis

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.
Study Design
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Study Type : Observational
Estimated Enrollment : 2600 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms
Actual Study Start Date : January 2011
Estimated Primary Completion Date : December 2021
Estimated Study Completion Date : December 2021

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
Patients with congenital atrioventricular block
Patient with congenital atrioventricular block
 Genetic: genetic blood analysis
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: genetic blood analysis
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: genetic blood analysis
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: genetic blood analysis
patients will undergo a blood sample (15 ml) to analyse their genetic profile


Outcome Measures
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Primary Outcome Measures :
  1. Identification of genetic variations responsible of Atrioventricular Conduction Defects [ Time Frame: inclusion ]

Biospecimen Retention:   Samples With DNA
whole blood

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients of both sex with Atrioventricular Conduction Defects and relatives examined during familial screening
Criteria

Congenital atrioventricular block 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.

Congenital atrioventricular block exclusion criteria

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

Progressive Cardiac Conduction Disease inclusion criteria

  • 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

Progressive Cardiac Conduction Disease exclusion criteria

  • 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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02881671


Contacts
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Contact: vincent PROBST, MD-PHD vincent.probst@chu-nantes.fr

Locations
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France
Chu Nantes Recruiting
Nantes, France
Contact: VINCENT PROBST, MD-PHD         
Chu Rennes Recruiting
Rennes, France
Contact: PHILIPPE MABO, MD-PHD         
Sponsors and Collaborators
Nantes University Hospital
Investigators
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Principal Investigator: vincent PROBST, MD-PHD CHU de Nantes
More Information
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Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT02881671    
Other Study ID Numbers: PROG/11/33
First Posted: August 29, 2016    Key Record Dates
Last Update Posted: September 9, 2021
Last Verified: September 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Nantes University Hospital:
genetic
congenital atrioventricular block
progressive Cardiac Conduction Disease
Additional relevant MeSH terms:
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Heart Block
Cardiac Conduction System Disease
Arrhythmias, Cardiac
 Heart Diseases
Cardiovascular Diseases
Pathologic Processes