Mayo AVC Registry and Biobank

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
• 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

Sponsors & Collaborators

• Cambridge University Hospitals NHS Foundation Trust

  collaborator OTHER

• Mayo Clinic

  lead OTHER

Principal Investigators

• Virend Somers, PhD, MD · Mayo Clinic

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2018-02-09

Primary Completion

2027-03-31

Completion

2027-03-31

Countries

• United States
• United Kingdom

Study Locations