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

Status: Recruiting
Location: See all (2) locations...
Study Type: Observational
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

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: t
View:

• 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)

Locations
United States
Minnesota
Mayo Clinic
RECRUITING
Rochester
Other Locations
United Kingdom
Royal Papworth Hospital NHS Foundation Trust
RECRUITING
Papworth Everard
Contact Information
Primary
Nicholas Wozniak
wozniak.nicholas@mayo.edu
+1 507 2558794
Backup
Anwar A Chahal, Ph.D.
chahal.anwar@mayo.edu
Time Frame
Start Date: 2018-02-09
Estimated Completion Date: 2026-03
Participants
Target number of participants: 1000
Treatments
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.
Sponsors
Leads: Mayo Clinic
Collaborators: Cambridge University Hospitals NHS Foundation Trust

This content was sourced from clinicaltrials.gov