Clinical Trial: National ARVC DATA Registry and Bio Bank
Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational [Patient Registry]
Official Title: Canadian National Arrhythmogenic Right Ventricular Cardiomyopathy
Brief Summary:
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited condition that may cause life threatening irregular heart rhythms that often manifest as unexpected cardiac arrest or sudden death in early adulthood. The condition is difficult to diagnose and often is not noticed until a family member suffers a cardiac arrest or death.
The Canadian National ARVC registry will collect data from Inherited Heart Rhythm Clinics across Canada.
STUDY OBJECTIVES:
Primary:
- To determine the natural history of ARVC (short/intermediate term), including risk of symptomatic arrhythmias and sudden death, for patients with the phenotype and those gene positive patients without phenotype evidence of disease.
- To understand risk factors for sudden death/appropriate ICD use in ARVC, including test characteristics/performance and their relationship to outcomes (ECG, Holter, signal averaged ECG, loop recorders, imaging, voltage mapping, T wave alternans, cardiac biopsy and biomarkers).
- To establish a phenotype genotype correlation, including comparison of patients with disease causing mutations, variants of unknown significance (VUS) and Task Force Criteria (TFC) positive, gene negative patients
Detailed Summary:
BACKGROUND:
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a familial condition characterized by onset of life threatening ventricular arrhythmias in early adulthood, presenting with ventricular tachycardia, cardiac arrest or sudden death1. The disease is diagnosed with a wide range of tests that focus on imaging the right ventricle and assessing for ambient arrhythmia or abnormal electrical substrate.
These factors are collated into a score that forms the ARVC Task Force Criteria, known to be specific but not sensitive 2, 3. These criteria have been revised in 2010, introducing a broader and more quantitative approach to diagnosis including genetic testing results, intended to enhance sensitivity without reducing specificity 4. An online tool for Task Force Criteria calculation has been developed by the Principal Investigator that enables calculation in real time, with export to PDF and excel format, free for public use (http://qstatistic.com/pdg/public.php?rep=arvc_cri).These criteria take into account electrocardiographic and imaging findings, along with tissue analysis and family history. They account for findings from genetic testing, confounded in part by the unknown significance of a positive genetic test in the absence of a phenotype in a disease with variable penetrance and expressivity 2, 4-12. The disease is predominantly caused by defects in cell-cell adhesion
PROJECT APPROVAL PROCESS: For new projects and further analysis
New projects and proposals for the Canadian National ARVC Registry will be reviewed on a case-by-case basis by the Steering Committee. The following items must be included with each new proposal:
- Projec
Sponsor: University of British Columbia
Current Primary Outcome: Natural History of ARVC [ Time Frame: Three years ]
To determine the natural history of ARVC (short/intermediate term), including risk of symptomatic arrhythmias and sudden death, for patients with the phenotype and those gene positive patients without phenotype evidence of disease.
Original Primary Outcome: Same as current
Current Secondary Outcome: Risk Factors and Sudden Death [ Time Frame: Three Years ]
To understand risk factors for sudden death/appropriate ICD use in ARVC, including test characteristics/performance and their relationship to outcomes (ECG, Holter, signal averaged ECG, loop recorders, imaging, voltage mapping, T wave alternans, cardiac biopsy and biomarkers).
Original Secondary Outcome: Same as current
Information By: University of British Columbia
Dates:
Date Received: March 1, 2013
Date Started: January 2013
Date Completion: August 2020
Last Updated: October 31, 2016
Last Verified: October 2016
