Mayo AVC Registry and Biobank

Part of paid clinical trials in Rochester, Minnesota.

Sponsor
Mayo Clinic
Study ID
NCT03049254
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Accepted

Study Details

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 Dates

Start date
Feb 9, 2018
Status verified
Apr 2026
Primary completion
Mar 31, 2027
Completion
Mar 31, 2027

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: Proband
    Proband - the person who is the first to present with a diagnosis of AVC
  • Arm: 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 ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Mayo ClinicRochesterMinnesota55905
Nicholas Wozniak
[email protected]
507-255-8794
Shahid Karim, MD
[email protected]
507-422-0766
Anwar A Chahal, MB ChB MRCP (SUB_INVESTIGATOR)
Virend K Somers, MD PhD (PRINCIPAL_INVESTIGATOR)
Grace Lin, MD (PRINCIPAL_INVESTIGATOR)

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