Actively Recruiting
Identification of Novel Genetic Variants and Biomarkers of Disease Progression in Arrhythmogenic Cardiomyopathy
Led by Mayo Clinic · Updated on 2026-04-27
1000
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
Sponsors
M
Mayo Clinic
Lead Sponsor
C
Cambridge University Hospitals NHS Foundation Trust
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying arrhythmogenic ventricular cardiomyopathy (AVC), a genetic heart condition that can cause heart failure and serious rhythm problems, including sudden cardiac arrest or death. This observational study aims to discover new genetic variants and biomarkers linked to AVC, improve diagnosis and screening methods especially for blood relatives, and understand how genetic differences relate to disease symptoms and progression. The Mayo Clinic and Papworth Hospital collaborate on this registry to collect detailed clinical and genetic data from patients with AVC and their family members. Participants include people diagnosed with AVC or with sudden cardiac arrest or death suspected to be caused by AVC, as well as their blood relatives who may or may not have the condition. The study gathers a wide range of data including medical history, ECGs, imaging tests like echocardiograms and cardiac MRIs, exercise tests, biopsies, and blood, saliva, and buccal samples for genetic and biomarker analysis. Follow-up includes annual clinical assessments and screening every three years for relatives to monitor disease development and progression. Throughout the study, participants will undergo various tests such as ECG monitoring, imaging, exercise stress tests, and sample collections to track heart function and disease markers. Data will be securely managed to protect privacy. Researchers will evaluate genetic information alongside clinical data to identify risk factors for sudden cardiac death and to better understand AVC's natural history. The study plans to continue indefinitely to gather long-term information on disease progression and outcomes.
CONDITIONS
Brief Title
Mayo AVC Registry and Biobank
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients who survived sudden cardiac arrest not caused by a heart attack
- Patients with sudden cardiac death not caused by a heart attack
- Patients with sudden cardiac arrest associated with seizures, epilepsy, syncope, drowning, or near-drowning where cardiomyopathy is suspected
- Family members of patients diagnosed with primary cardiomyopathy including hypertrophic cardiomyopathy, idiopathic dilated cardiomyopathy, or arrhythmogenic ventricular cardiomyopathy
You will not qualify if you...
- Patients with a clear known cause of sudden cardiac arrest or death such as myocardial infarction or heart failure due to ischemic heart disease
- Patients with significant coronary artery disease (over 50% stenosis) explaining left ventricular dysfunction
- Individuals unwilling to provide written consent or assent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Baseline visit
Participants undergo baseline assessments including clinical history, examination, ECG, imaging, exercise testing, and collection of blood and other samples for genetic and biomarker analysis to identify and characterize arrhythmogenic ventricular cardiomyopathy (AVC).
1 baseline visit (in-person)
Duration - Indefinite, with annual assessments and 3-year interval follow-ups
Participants are followed longitudinally with annual clinical assessments including ECG or Holter monitoring, and follow-up visits approximately every 3 years for in-depth re-assessment of disease progression using clinical evaluation, ECG, Holter monitoring, imaging, and exercise testing.
Annual visits and follow-up visits every 3 years
Trial Site Locations
Total: 2 locations
1
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
2
Royal Papworth Hospital NHS Foundation Trust
Papworth Everard, Cambridge, United Kingdom, CB23 3RE
Actively Recruiting
Research Team
N
Nicholas Wozniak
A
Anwar A Chahal, Ph.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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