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

Study Results

Results pending

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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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

34 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-09-13

Study Completion Date

2018-12-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic Right Ventricular Cardiomyopathy

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Exploratory, monocentric and prospective study

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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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

Group Type EXPERIMENTAL

Cardiomyocytes collection

Intervention Type DIAGNOSTIC_TEST

collect intact cardiomyocytes from which high quality DNA extraction will be achieved

Interventions

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Cardiomyocytes collection

collect intact cardiomyocytes from which high quality DNA extraction will be achieved

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* patients needing endocardial voltage mapping in the context of arrhythmogenic right ventricular cardiomyopathy/dysplasia diagnosed using current criteria