Mayo AVC Registry and Biobank
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|ClinicalTrials.gov Identifier: NCT03049254|
Recruitment Status : Recruiting
First Posted : February 10, 2017
Last Update Posted : October 3, 2018
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:
- Discover new genes or altered genes (variants) which cause AVC
- Identify biomarkers which predict (2a) disease onset, (2b) disease progression, (2c) and the likelihood of arrhythmia (ventricular, supra-ventricular and atrial fibrillation)
- Correlate genotype with phenotype in confirmed cases of AVC followed longitudinally using clinical, electrocardiographic and imaging data.
- Characterize desmosomal changes in buccal mucosal cells with genotype and validate with gold-standard endomyocardial biopsies
|Condition or disease|
|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|
Show Detailed Description
|Study Type :||Observational|
|Estimated Enrollment :||6000 participants|
|Official Title:||The Mayo Clinic Arrhythmogenic Ventricular Cardiomyopathy Registry and Biobank|
|Study Start Date :||January 2016|
|Estimated Primary Completion Date :||December 2022|
|Estimated Study Completion Date :||December 2031|
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.
- Genotyping [ Time Frame: 3 years ]Using family 'trios' discover novel pathogenic variants and characterize them
- Correlate genotype with phenotype [ Time Frame: 3-6 years ]Correlate genotype with phenotype in confirmed cases of AVC followed longitudinally as per 2010 Task Force Criteria
- Natural history and secular trends of AVC [ Time Frame: 3-6 years ]Test blood-based biomarkers (such high-sensitivity CRP, high-sensitivity troponin, NT-proBNP and miRNA) which predict disease onset, disease progression, and the likelihood of arrhythmia.
- Natural history and secular trends of AVC [ Time Frame: 3-6 years ]Discover ECG-based biomarkers which predict disease onset, disease progression, and the likelihood of arrhythmia.
- Natural history and secular trends of AVC [ Time Frame: 3-6 years ]Discover MRI-based biomarkers which predict disease onset, disease progression, and the likelihood of arrhythmia.
- Cellular and Tissue phenotyping [ Time Frame: 3 years ]Characterize desmosomal changes in buccal mucosal cells with endomyocardial biopsies and/or in vivo tissue characterization by cardiac MRI or cardiac CT
- Risk factors for sudden death or appropriate ICD discharge [ Time Frame: 5-10 years ]Test the performance of biomarkers and risk factors to outcomes of sudden death and/or appropriate ICD therapies by modeling.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03049254
|Contact: Hannah E Frost||+1 507 293 2762||Frost.Hannah@mayo.edu|
|Contact: Anwar A Chahal, MBChB PhD||+1 507 255 email@example.com|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Contact: Anwar A Chahal, MBChB MRCP|
|Sub-Investigator: Peter A Brady, MD FRCP FHRS|
|Sub-Investigator: Anwar A Chahal, MB ChB MRCP|
|Sub-Investigator: Virend K Somers, MD PhD|
|Principal Investigator: Grace Lin, MD|
|Royal Papworth Hospital NHS Foundation Trust||Recruiting|
|Papworth Everard, Cambridge, United Kingdom, CB23 3RE|
|Contact: Greg Mellor, MD CVGenetics@nhs.net|
|Contact: Anwar A Chahal, MBChB PhD CVGenetics@nhs.net|
|Principal Investigator: Andrew A Grace, PhD FRCP FHRS|
|Sub-Investigator: Anwar A Chahal, MBChB MRCP|
|Sub-Investigator: Greg Mellor, MD MRCP|
|Sub-Investigator: Lynne Williams, MBChB MRCP PhD|
|Sub-Investigator: Sharad Agarwal, MD FRCP|
|Sub-Investigator: Bobby Agrawal, BMBS FRCS FRCR|
|Sub-Investigator: Doris M Rassl, MBBS MRCPath|
|Principal Investigator:||Peter A Brady, MD FRCP FHRS||Mayo Clinic|