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Recruiting No phase listed Observational Accepts healthy volunteers

Mayo AVC Registry and Biobank

ClinicalTrials.gov ID: NCT03049254

Public ClinicalTrials.gov record NCT03049254. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

ClinicalTrials.gov public records Last synced Sep 2, 2026, 12:22 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Official title

Identification of Novel Genetic Variants and Biomarkers of Disease Progression in Arrhythmogenic Cardiomyopathy

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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

Study identification

NCT ID
NCT03049254
Recruitment status
Recruiting
Study type
Observational
Phase
Not listed
Lead sponsor
Mayo Clinic
Other
Enrollment
1,000 participants

Conditions and interventions

Eligibility (public fields only)

Age range
Not listed
Sex
All
Healthy volunteers
Accepts healthy volunteers

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date
Feb 8, 2018
Primary completion
Feb 28, 2027
Completion
Feb 28, 2027
Last update posted
Apr 26, 2026

2018 – 2027

United States locations

U.S. sites
1
U.S. states
1
U.S. cities
1
Facility City State ZIP Site status
Mayo Clinic Rochester Minnesota 55905 Recruiting

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

Non-U.S. locations

This page focuses on the U.S. directory. The official record also lists 1 non-U.S. site.

About this trial record page

What this page shows
Public field values for ClinicalTrials.gov record NCT03049254, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do
No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from
Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh
Last update posted Apr 26, 2026 · Synced Sep 2, 2026

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Open the official record

The complete protocol, eligibility criteria, and contact information for NCT03049254 live on ClinicalTrials.gov.

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