Recruiting

Genetic Testing

Sponsor:

Mayo Clinic

Code:

NCT03049254

Conditions

Arrhythmogenic Right Ventricular Cardiomyopathy

Cardiomyopathies

Heart Diseases

Cardiovascular Diseases

Sudden Cardiac Arrest

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief summary:

Arrhythmogenic ventricular cardiomyopathy (AVC) is a genetic condition which affects the heart and can lead to heart failure and rhythm problems, of which, sudden cardiac arrest or death is the most tragic and dangerous. Diagnosis and screening of blood-relatives is very difficult as the disease process can be subtle, but sufficient enough, so that the first event is sudden death.

The Mayo Clinic AVC Registry is a collaboration between Mayo Clinic, Rochester, USA and Papworth Hospital, Cambridge University Hospitals, Cambridge, UK. The investigators aim to enroll patients with a history of AVC or sudden cardiac death which may be due to AVC, from the US and UK. Family members who are blood-relatives will also be invited, including those who do not have the condition. Data collected include symptoms, ECG, echocardiographic, MRI, Holter, loop recorder, biopsies, exercise stress testing, blood, buccal and saliva samples.

Objectives of the study:

1. Discover new genes or altered genes (variants) which cause AVC
2. Identify biomarkers which predict (2a) disease onset, (2b) disease progression, (2c) and the likelihood of arrhythmia (ventricular, supra-ventricular and atrial fibrillation)
3. Correlate genotype with phenotype in confirmed cases of AVC followed longitudinally using clinical, electrocardiographic and imaging data.
4. Characterize desmosomal changes in buccal mucosal cells with genotype and validate with gold-standard endomyocardial biopsies

Conditions

Arrhythmogenic Right Ventricular Cardiomyopathy

Cardiomyopathies

Heart Diseases

Cardiovascular Diseases

Sudden Cardiac Arrest

Study ID

NCT03049254

Start date

Feb 9, 2018

Status verified date

Apr, 2026

Completion date

Mar, 2027

Anticipated

Primary completion date

Mar, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Inclusion Criteria:

  • Patients with a diagnosis of a non-MI SCA who survived
  • Patients with a non-MI SCD
  • Patient with a SCA associated with seizures, epilepsy, syncope, drowning and near-drowning, where a cardiomyopathy is suspected
  • Family member of a patient diagnosed with primary cardiomyopathy (including HCM, idiopathic DCM, AVC)

Exclusion Criteria:

  • Patients with a clear, unambiguous known cause of SCA or SCD such as myocardial infarction or heart failure secondary to ischemic heart disease
  • Significant coronary artery disease (Epicardial coronary artery stenosis >50%) which can explain degree of LV dysfunction
  • Those unwilling to provide written consent or assent

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

Proband

Proband - the person who is the first to present with a diagnosis of AVC

Family members (consultands)

First-degree relatives of probands with AVC (who may be living or deceased) In some circumstances where multiple family members are or may be affected, they may be eligible.

Primary outcome measure

  • Genotyping [ Time Frame: 3 years ]
  • Correlate genotype with phenotype [ Time Frame: 3-6 years ]

Central Contacts and Locations

Central contacts

Nicholas Wozniak

+1 507 2558794wozniak.nicholas@mayo.edu

Anwar A Chahal, Ph.D.

chahal.anwar@mayo.edu

Locations

Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

Nicholas Wozniak

507-255-8794wozniak.nicholas@mayo.edu

Shahid Karim, MD

507-422-0766karim.shahid@mayo.edu

Principal Investigator:

Virend K Somers, MD PhD

More Information

Sponsor

Mayo Clinic

Last update posted

Apr 27, 2026

Last verified

Apr, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Mayo Clinic on 2026-04-27.