Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms
- Conditions
- Cardiac Conduction Defect ProgressiveCongenital Complete Heart Block
- 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.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 2600
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Identification of genetic variations responsible of Atrioventricular Conduction Defects inclusion
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (2)
Chu Nantes
🇫🇷Nantes, France
Chu Rennes
🇫🇷Rennes, France
Chu Nantes🇫🇷Nantes, FranceVINCENT PROBST, MD-PHDContact