DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (FA2CM-DVDA)
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|ClinicalTrials.gov Identifier: NCT03177018|
Recruitment Status : Recruiting
First Posted : June 6, 2017
Last Update Posted : August 21, 2019
|Condition or disease||Intervention/treatment||Phase|
|Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic Right Ventricular Cardiomyopathy||Diagnostic Test: Cardiomyocytes collection||Not Applicable|
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 (Clinical Trial)|
|Estimated Enrollment :||50 participants|
|Intervention Model:||Single Group Assignment|
|Intervention Model Description:||Exploratory, monocentric and prospective study|
|Masking:||None (Open Label)|
|Official Title:||Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia|
|Actual Study Start Date :||September 13, 2016|
|Estimated Primary Completion Date :||November 2020|
|Estimated Study Completion Date :||November 2021|
Experimental: Patients with Cardiomyocytes collection
Patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment
Diagnostic Test: Cardiomyocytes collection
collect intact cardiomyocytes from which high quality DNA extraction will be achieved
- percentage of patients [ Time Frame: inclusion ]Percentage of patients undergoing endocardial voltage mapping for arrhythmogenic right ventricular cardiomyopathy/dysplasia in whom at least one intact cardiomyocyte allowing extraction of high quality DNA will be collected.
- Mutation percentage [ Time Frame: Inclusion ]Percentage of cases in which a mutation of at least one of three selected genes involved in arrhythmogenic right ventricular cardiomyopathy/dysplasia will be identified
- DNA results [ Time Frame: Inclusion ]Concordance of results of DNA analysis between blood cells and cardiomyocytes
- Epigenetic analysis [ Time Frame: Inclusion ]Number of cases where epigenetic analysis of the three selected genes PKP2, DSP, DSG2 from cardiomyocyte DNA could be performed and comparison with DNA methylation observed from blood cells DNA.
- Cardiomyocytes number Description: [ Time Frame: Inclusion ]Number of intact cardiomyocytes collected in each patient
- Percentage of cardiomyocytes [ Time Frame: Inclusion ]Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved
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): NCT03177018
|Contact: Philippe MAURY, MD||+33(0)firstname.lastname@example.org|
|University Hospital Toulouse - Cardiology Department||Recruiting|
|Toulouse, France, 31000|
|Principal Investigator: Philippe Maury, MD|
|Sub-Investigator: Anne Rollin, MD|
|Principal Investigator:||Philippe MAURY, MD||University Hospital, Toulouse|