Canadian National Arrhythmogenic Right Ventricular Cardiomyopathy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,500
- 试验地点
- 16
- 主要终点
- Natural History of ARVC
研究概览
简要总结
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
详细描述
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:
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Natural History of ARVC
时间窗: 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.
次要结局
- Risk Factors and Sudden Death(Three Years)
研究者
Andrew Krahn
Professor
University of British Columbia