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

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ClinicalTrials.gov Identifier: NCT03177018
Recruitment Status : Recruiting
First Posted : June 6, 2017
Last Update Posted : August 21, 2019
Sponsor:
Information provided by (Responsible Party):
University Hospital, Toulouse

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 Not Applicable

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.


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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 50 participants
Intervention Model: Single Group Assignment
Intervention Model Description: Exploratory, 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 : September 13, 2016
Estimated Primary Completion Date : November 2020
Estimated Study Completion Date : November 2021


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




Primary Outcome Measures :
  1. percentage of patients [ Time Frame: 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 :
  1. Mutation percentage [ Time Frame: 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

  2. DNA results [ Time Frame: Inclusion ]
    Concordance of results of DNA analysis between blood cells and cardiomyocytes

  3. Epigenetic analysis [ Time Frame: 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.

  4. Cardiomyocytes number Description: [ Time Frame: Inclusion ]
    Number of intact cardiomyocytes collected in each patient

  5. Percentage of cardiomyocytes [ Time Frame: Inclusion ]
    Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved



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Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03177018


Contacts
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Contact: Philippe MAURY, MD +33(0)561323054 maury.p@chu-toulouse.fr

Locations
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France
University Hospital Toulouse - Cardiology Department Recruiting
Toulouse, France, 31000
Principal Investigator: Philippe Maury, MD         
Sub-Investigator: Anne Rollin, MD         
Sponsors and Collaborators
University Hospital, Toulouse
Investigators
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Principal Investigator: Philippe MAURY, MD University Hospital, Toulouse

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Responsible Party: University Hospital, Toulouse
ClinicalTrials.gov Identifier: NCT03177018     History of Changes
Other Study ID Numbers: RC31/15/7731
First Posted: June 6, 2017    Key Record Dates
Last Update Posted: August 21, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Cardiomyopathies
Arrhythmogenic Right Ventricular Dysplasia
Heart Diseases
Cardiovascular Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities