Clinical trial NCT03177018: 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
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Cardiomyopathy
Lead sponsor: University Hospital, Toulouse
Sponsor class: OTHER
First posted: 2017-06-06
Enrollment: 34
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Exploratory, monocentric and prospective study
Primary purpose: DIAGNOSTIC

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.

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

Primary outcomes:
measure: percentage of patients
timeFrame: inclusion
Secondary outcomes:
measure: Mutation percentage
timeFrame: Inclusion
measure: DNA results
timeFrame: Inclusion
measure: Epigenetic analysis
timeFrame: Inclusion
measure: Cardiomyocytes number Description:
timeFrame: Inclusion
measure: Percentage of cardiomyocytes
timeFrame: Inclusion
Other outcomes:
Locations:
city: Paris
country: France
facility: Cardiology-rytmology service
city: Toulouse
country: France
facility: University Hospital Toulouse - Cardiology Department
Study officials:
affiliation: University Hospital, Toulouse
name: Philippe MAURY, MD
role: PRINCIPAL_INVESTIGATOR
References: