FA2CM-DVDA: DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Sponsor

University Hospital, Toulouse (Other)

Overall Status

Recruiting

CT.gov ID

NCT03177018

Collaborator

(none)

Enrollment

Locations

Arm

61.6

Anticipated Duration (Months)

Patients Per Site

0.4

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic Right Ventricular Cardiomyopathy	Diagnostic Test: Cardiomyocytes collection	N/A

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 Design

Study Type:

Interventional

Anticipated Enrollment :

50 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Intervention Model Description:

Exploratory, monocentric and prospective studyExploratory, monocentric and prospective study

Masking:

None (Open Label)

Primary Purpose:

Diagnostic

Official Title:

Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Actual Study Start Date :

Sep 13, 2016

Anticipated Primary Completion Date :

Nov 1, 2020

Anticipated Study Completion Date :

Nov 1, 2021

Arms and Interventions

Arm	Intervention/Treatment
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

Arm

Intervention/Treatment

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

Outcome Measures

Primary Outcome Measures

percentage of patients [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.

Secondary Outcome Measures

Mutation percentage [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 [Inclusion]
Concordance of results of DNA analysis between blood cells and cardiomyocytes
Epigenetic analysis [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: [Inclusion]
Number of intact cardiomyocytes collected in each patient
Percentage of cardiomyocytes [Inclusion]
Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 65 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Cardiology-rytmology service	Paris		France
2	University Hospital Toulouse - Cardiology Department	Toulouse		France	31000

Sponsors and Collaborators

University Hospital, Toulouse

Investigators

Principal Investigator: Philippe MAURY, MD, University Hospital, Toulouse

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

University Hospital, Toulouse

ClinicalTrials.gov Identifier:

NCT03177018

Other Study ID Numbers:

RC31/15/7731

First Posted:

Jun 6, 2017

Last Update Posted:

Nov 20, 2020

Last Verified:

Nov 1, 2020

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Cardiomyopathies

Arrhythmogenic Right Ventricular Dysplasia

Study Results

No Results Posted as of Nov 20, 2020