Arrhythmogenic Right Ventricular DysplasiaFA2CM-DVDANCT03177018
DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
A study testing Cardiomyocytes collection in people with Arrhythmogenic Right Ventricular Dysplasia and Arrhythmogenic Right Ventricular Cardiomyopathy, run by University Hospital, Toulouse at 2 sites in France.
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. Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy
- What is being tested?
- Cardiomyocytes collection
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 34 participants
- Where
- 2 sitesFrance
- Study dates
- 13 Sep 2016to 31 Dec 2018
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- patients needing endocardial voltage mapping in the context of arrhythmogenic right ventricular cardiomyopathy/dysplasia diagnosed using current criteria
Who cannot join
- Patient under 18 years, pregnant women and patients under legal protection
Trial locations and contacts
2 sites in 1 country.
France2 sites
Cardiology-rytmology service
Paris
University Hospital Toulouse - Cardiology Department
Toulouse, 31000
About this study
Official title: Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
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.
Read the 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.
- Conditions
- Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy
- Being tested
- Cardiomyocytes collection
- Medical subject headings
- Arrhythmogenic Right Ventricular Dysplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cardiomyocytes collectionDiagnostic test
collect intact cardiomyocytes from which high quality DNA extraction will be achieved
| Study group | Role | What they receive |
|---|---|---|
| Patients with Cardiomyocytes collection | Experimental | Patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment Receives: Diagnostic Test: Cardiomyocytes collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: inclusion
Secondary outcomes (5)
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
Measured: Inclusion
DNA results
Concordance of results of DNA analysis between blood cells and cardiomyocytes
Measured: Inclusion
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.
Measured: Inclusion
Cardiomyocytes number Description:
Number of intact cardiomyocytes collected in each patient
Measured: Inclusion
Percentage of cardiomyocytes
Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved
Measured: Inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jun 2017
- Study start13 Sep 2016
- Primary completion23 Feb 2018
- Study completion31 Dec 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Arrhythmogenic Right Ventricular DysplasiaStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Exploratory, monocentric and prospective study
- Masking
- None (open label)
- Enrolment
- 34 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Philippe MAURY, MD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03177018
- Sponsor's protocol ID
- RC31/15/7731
- Acronym
- FA2CM-DVDA
- Status last verified
- May 2026
- First submitted
- 2 Jun 2017
- Last updated
- 1 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Maury P, Ader F, Lhuillier E, Martins F, Beneyto M, Gales C, Villard E, Duboscq-Bidot L, Gandjbakhch E, Guilbeau-Frugier C. Human DNA Extraction and Sequencing From Cardiomyocytes Collected by Catheter-Based Aspiration. J Am Coll Cardiol. 2024 Jul 30;84(5):490-492. doi: 10.1016/j.jacc.2024.05.037. No abstract available.
PubMed 39048282
Study at a glance
From the registry record, last updated by the sponsor on 1 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
- ClinicalTrials.gov ID
- NCT03177018
- Acronym / sponsor ID
- FA2CM-DVDA / RC31/15/7731
- Conditions
- Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Cardiomyopathy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 34 participants (actual)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- 13 Sep 2016 (actual)
- Primary completion
- 23 Feb 2018 (actual)
- Study completion
- 31 Dec 2018 (actual)
- First posted
- 6 Jun 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Exploratory, monocentric and prospective study
| Arm | Type | Receives |
|---|---|---|
| Patients with Cardiomyocytes collection | Experimental | Diagnostic Test: Cardiomyocytes collectionPatients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- patients needing endocardial voltage mapping in the context of arrhythmogenic right ventricular cardiomyopathy/dysplasia diagnosed using current criteria
Key exclusion criteria (1 listed)
- Patient under 18 years, pregnant women and patients under legal protection
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Cardiomyocytes collectioncollect intact cardiomyocytes from which high quality DNA extraction will be achieved | Diagnostic test | Patients with Cardiomyocytes collection |
Primary outcome
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.
5 secondary outcomes
Mutation percentage
Time frame: Inclusion
DNA results
Time frame: Inclusion
Epigenetic analysis
Time frame: Inclusion
Cardiomyocytes number Description:
Time frame: Inclusion
Percentage of cardiomyocytes
Time frame: Inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Jun 2026.
- Results publication: PubMed 39048282Maury P, Ader F, Lhuillier E, Martins F, Beneyto M, Gales C, Villard E, Duboscq-Bidot L, Gandjbakhch E, Guilbeau-Frugier C. Human DNA Extraction and Sequencing From Cardiomyocytes Collected by Catheter-Based Aspiration. J Am Coll Cardiol. 2024 Jul 30;84(5):490-492. doi: 10.1016/j.jacc.2024.05.037. No abstract available.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Philippe MAURY, MD principal investigator
University Hospital, Toulouse
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Cardiomyocytes collection in people with Arrhythmogenic Right Ventricular Dysplasia and Arrhythmogenic Right Ventricular Cardiomyopathy, run by University Hospital, Toulouse at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
percentage of patients (time frame: inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03177018, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Jun 2026.