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

Arrhythmogenic Right Ventricular Cardiomyopathy Clinical Trial

— FA2CM-DVDA  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03177018
• Other study ID #: RC31/15/7731
• Status: Completed
• Phase: N/A
• Start date: September 13, 2016
• Est. completion date: December 31, 2018

Study information

• Verified date: July 2023
• Source: University Hospital, Toulouse
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 34
• Est. completion date: December 31, 2018
• Est. primary completion date: February 23, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 65 Years

Eligibility

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

Related Conditions & MeSH terms

• Arrhythmogenic Right Ventricular Cardiomyopathy
• Arrhythmogenic Right Ventricular Dysplasia
• Cardiomyopathies

Intervention

Diagnostic Test:
• Cardiomyocytes collection
collect intact cardiomyocytes from which high quality DNA extraction will be achieved

Locations

Country	Name	City	State
France	Cardiology-rytmology service	Paris
France	University Hospital Toulouse - Cardiology Department	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Toulouse

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	percentage of patients	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.	inclusion
Secondary	Mutation percentage	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	Inclusion
Secondary	DNA results	Concordance of results of DNA analysis between blood cells and cardiomyocytes	Inclusion
Secondary	Epigenetic analysis	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.	Inclusion
Secondary	Cardiomyocytes number Description:	Number of intact cardiomyocytes collected in each patient	Inclusion
Secondary	Percentage of cardiomyocytes	Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved	Inclusion