Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms
NCT ID: NCT02881671
Last Updated: 2021-09-09
Study Results
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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UNKNOWN
2600 participants
OBSERVATIONAL
2011-01-31
2021-12-31
Brief Summary
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Detailed Description
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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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Study Design
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FAMILY_BASED
PROSPECTIVE
Study Groups
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Patients with congenital atrioventricular block
Patient with congenital atrioventricular block
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 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 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 blood analysis
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
Eligibility Criteria
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Inclusion Criteria
* 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
* 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
ALL
Yes
Sponsors
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Nantes University Hospital
OTHER
Responsible Party
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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
Chu Rennes
Rennes, , France
Countries
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Central Contacts
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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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