Back to resultsDNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (FA2CM-DVDA)
Primary Purpose
Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Cardiomyocytes collection
Sponsored by
About this trial
This is an interventional diagnostic trial for Arrhythmogenic Right Ventricular Dysplasia
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
Sites / Locations
- Cardiology-rytmology service
- University Hospital Toulouse - Cardiology Department
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Patients with Cardiomyocytes collection
Arm Description
Patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment
Outcomes
Primary Outcome Measures
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.
Secondary Outcome Measures
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
DNA results
Concordance of results of DNA analysis between blood cells and cardiomyocytes
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.
Cardiomyocytes number Description:
Number of intact cardiomyocytes collected in each patient
Percentage of cardiomyocytes
Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved
Full Information
NCT ID
NCT03177018
First Posted
June 2, 2017
Last Updated
July 21, 2023
Sponsor
University Hospital, Toulouse
1. Study Identification
Unique Protocol Identification Number
NCT03177018
Brief Title
DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Acronym
FA2CM-DVDA
Official Title
Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Study Type
Interventional
2. Study Status
Record Verification Date
July 2023
Overall Recruitment Status
Completed
Study Start Date
September 13, 2016 (Actual)
Primary Completion Date
February 23, 2018 (Actual)
Study Completion Date
December 31, 2018 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Toulouse
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. 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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Model Description
Exploratory, monocentric and prospective study
Masking
None (Open Label)
Allocation
N/A
Enrollment
34 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Patients with Cardiomyocytes collection
Arm Type
Experimental
Arm Description
Patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment
Intervention Type
Diagnostic Test
Intervention Name(s)
Cardiomyocytes collection
Intervention Description
collect intact cardiomyocytes from which high quality DNA extraction will be achieved
Primary Outcome Measure Information:
Title
percentage of patients
Description
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.
Time Frame
inclusion
Secondary Outcome Measure Information:
Title
Mutation percentage
Description
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
Time Frame
Inclusion
Title
DNA results
Description
Concordance of results of DNA analysis between blood cells and cardiomyocytes
Time Frame
Inclusion
Title
Epigenetic analysis
Description
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.
Time Frame
Inclusion
Title
Cardiomyocytes number Description:
Description
Number of intact cardiomyocytes collected in each patient
Time Frame
Inclusion
Title
Percentage of cardiomyocytes
Description
Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved
Time Frame
Inclusion
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
65 Years
Accepts Healthy Volunteers
No
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Philippe MAURY, MD
Organizational Affiliation
University Hospital, Toulouse
Official's Role
Principal Investigator
Facility Information:
Facility Name
Cardiology-rytmology service
City
Paris
Country
France
Facility Name
University Hospital Toulouse - Cardiology Department
City
Toulouse
ZIP/Postal Code
31000
Country
France
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
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