Mayo AVC Registry and Biobank

Recruiting now

Conditions studied: Arrhythmogenic Right Ventricular Cardiomyopathy, Cardiomyopathies, Heart Diseases, Cardiovascular Diseases, Sudden Cardiac Arrest, Sudden Cardiac Death, Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Ventricular Cardiomyopathy, Familial Dilated Cardiomyopathy, Cardiovascular Abnormalities, Sarcoidosis, Cardiac Arrhythmia, Cardiac Sarcoidosis, Myocarditis, Inflammatory Cardiomyopathy, Ventricular Tachycardia, Right Ventricular Outflow Tract Ventricular Tachycardia

In brief

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

Key facts

Study ID

NCT03049254

Run by

Mayo Clinic

People needed

1000

Starts

2018-02-09

Expected to finish

2027-03-01

Last updated by the study team

2026-04-27

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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)

You may not qualify if…

• 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

Where it is running

• Mayo Clinic — Rochester, Minnesota, United States (enrolling)
• Royal Papworth Hospital NHS Foundation Trust — Papworth Everard, Cambridge, United Kingdom (enrolling)

Full record on ClinicalTrials.gov

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