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

Brief Title

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

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

Interventional


Primary Outcome

percentage of patients

Secondary Outcome

 Mutation percentage

Condition

Arrhythmogenic Right Ventricular Dysplasia

Intervention

Cardiomyocytes collection

Study Arms / Comparison Groups

 Patients with Cardiomyocytes collection
Description:  Patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Diagnostic Test

Estimated Enrollment

50

Start Date

September 13, 2016

Completion Date

November 2021

Primary Completion Date

November 2020

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
      

Gender

All

Ages

18 Years - 65 Years

Accepts Healthy Volunteers

No

Contacts

Philippe MAURY, MD, +33(0)561323054, [email protected]

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT03177018

Organization ID

RC31/15/7731


Responsible Party

Sponsor

Study Sponsor

University Hospital, Toulouse


Study Sponsor

Philippe MAURY, MD, Principal Investigator, University Hospital, Toulouse


Verification Date

November 2020