RecruitingNot Applicable

Mayo AVC Registry and Biobank

United States, United Kingdom1,000 participantsStarted 2018-02-09

Plain-language 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

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Genotyping

Timeframe: 3 years

Correlate genotype with phenotype

Timeframe: 3-6 years

Trial details

NCT IDNCT03049254

SponsorMayo Clinic

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2027-03

Contact for this trial

Nicholas Wozniak

+1 507 2558794 wozniak.nicholas@mayo.edu

View on ClinicalTrials.gov More Arrhythmogenic Right Ventricular Cardiomyopathy trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.