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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

Tracking Information
First Submitted Date  ICMJE June 2, 2017
First Posted Date  ICMJE June 6, 2017
Last Update Posted Date August 21, 2019
Actual Study Start Date  ICMJE September 13, 2016
Estimated Primary Completion Date November 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: June 2, 2017)
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.
Original Primary Outcome Measures  ICMJE Same as current
Change History Complete list of historical versions of study NCT03177018 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures  ICMJE
 (submitted: June 2, 2017)
  • 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
  • DNA results [ Time Frame: Inclusion ]
    Concordance of results of DNA analysis between blood cells and cardiomyocytes
  • 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.
  • Cardiomyocytes number Description: [ Time Frame: Inclusion ]
    Number of intact cardiomyocytes collected in each patient
  • Percentage of cardiomyocytes [ Time Frame: Inclusion ]
    Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Official Title  ICMJE Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
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.

Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Intervention Model: Single Group Assignment
Intervention Model Description:
Exploratory, monocentric and prospective study
Masking: None (Open Label)
Primary Purpose: Diagnostic
Condition  ICMJE
  • Arrhythmogenic Right Ventricular Dysplasia
  • Arrhythmogenic Right Ventricular Cardiomyopathy
Intervention  ICMJE Diagnostic Test: Cardiomyocytes collection
collect intact cardiomyocytes from which high quality DNA extraction will be achieved
Study Arms  ICMJE 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
Intervention: Diagnostic Test: Cardiomyocytes collection
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: May 30, 2018)
50
Original Estimated Enrollment  ICMJE
 (submitted: June 2, 2017)
30
Estimated Study Completion Date  ICMJE November 2021
Estimated Primary Completion Date November 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 18 Years to 65 Years   (Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE
Contact: Philippe MAURY, MD +33(0)561323054 maury.p@chu-toulouse.fr
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03177018
Other Study ID Numbers  ICMJE RC31/15/7731
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE
Plan to Share IPD: No
Responsible Party University Hospital, Toulouse
Study Sponsor  ICMJE University Hospital, Toulouse
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Philippe MAURY, MD University Hospital, Toulouse
PRS Account University Hospital, Toulouse
Verification Date August 2019

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP