Brief Title
DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Official Title
Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Brief Summary
The main objective of this study is to assess if it is possible, at the end of endocardial
voltage mapping, to accurately collect intact cardiomyocytes and to isolate high quality DNA
allowing molecular testing of selected genes involved in arrhythmogenic right ventricular
cardiomyopathy/dysplasia.
Detailed Description
Arrhythmogenic right ventricular cardiomyopathy/dysplasia is associated with mutations in
genes encoding proteins from desmosomes and is characterized by a large expression
variability. The classical molecular diagnosis from blood cells fails to identify mutations
in around 30% of patients. Probes used for endocardial voltage mapping allow to collect some
cardiomyocytes which could be used for DNA analysis.
The aim of this project is to investigate if cardiomyocytes can efficiently be collected
during endocardial voltage mapping in patients with arrhythmogenic right ventricular
cardiomyopathy/dysplasia. Thirty patients suffering from arrhythmogenic right ventricular
cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease
diagnosis and/or prognosis assessment will be included. The main outcome will be the
percentage of patients in whom mapping will allow to collect intact cardiomyocytes from which
high quality DNA extraction will be achieved. Other outcomes include the identification of
new mutational mechanisms as somatic mosaicism in selected genes (PKP2, DSCG2 DSP) and the
feasibility of epigenetic analysis of these genes.
Study Type
Interventional
Primary Outcome
percentage of patients
Secondary Outcome
Mutation percentage
Condition
Arrhythmogenic Right Ventricular Dysplasia
Intervention
Cardiomyocytes collection
Study Arms / Comparison Groups
Patients with Cardiomyocytes collection
Description: Patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Diagnostic Test
Estimated Enrollment
50
Start Date
September 13, 2016
Completion Date
November 2021
Primary Completion Date
November 2020
Eligibility Criteria
Inclusion Criteria:
- patients needing endocardial voltage mapping in the context of arrhythmogenic right
ventricular cardiomyopathy/dysplasia diagnosed using current criteria
Exclusion Criteria:
- Patient under 18 years, pregnant women and patients under legal protection
Gender
All
Ages
18 Years - 65 Years
Accepts Healthy Volunteers
No
Contacts
Philippe MAURY, MD, +33(0)561323054, [email protected]
Location Countries
France
Location Countries
France
Administrative Informations
NCT ID
NCT03177018
Organization ID
RC31/15/7731
Responsible Party
Sponsor
Study Sponsor
University Hospital, Toulouse
Study Sponsor
Philippe MAURY, MD, Principal Investigator, University Hospital, Toulouse
Verification Date
November 2020