Mayo AVC Registry and Biobank
Key facts
- Who runs it
- Mayo Clinic
- Where
- Papworth Everard, United KingdomSee the siteAlso in 1 other country, 1 site
- Trial code
- Status
- Recruiting
- People taking part
- 1,000 people, planned
- Started
- 9 Feb 2018
- Expected to end
- Mar 2027
- Type of study
- Observational, 2 groups
- Record updated
- 27 April 2026
Who can take part
- Sex
- Women and men
- Healthy volunteers
- Can take part
The registry criteria, word for word
Show all 7 criteriaShow less
Who can take part
- 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)
Who cannot take part
- 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 in United Kingdom
Also in 1 other country, 1 site
- Royal Papworth Hospital NHS Foundation TrustPapworth Everard, United KingdomContact: Greg Mellor, MDTaking people
About the trial
What the trial wants to find out
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.
Read full original descriptionShow less
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
The 2 groups in the trial
- 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.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Identification of Novel Genetic Variants and Biomarkers of Disease Progression in Arrhythmogenic Cardiomyopathy
- Record updated
- 27 April 2026