Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank: Improving Detection and Treatment of Inherited Heart Rhythm Disorders to Prevent Sudden Death
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 10,000
- 试验地点
- 1
- 主要终点
- Create a Canadian Research Data base and Bio bank for those affected by inherited heart rhythm conditions.
研究概览
简要总结
The Hearts in Rhythm Organization (HiRO) is a national network of Canadian researchers/clinicians, working towards a better understanding of the rare genetic causes of sudden cardiac death (SCD).
Canadian adult and pediatric electrophysiology centres across Canada work together to gather data and bio sample in a national data registry and bio bank hoping to improve the detection and treatment of inherited heart rhythm disorders to prevent sudden death.
详细描述
Led by clinical researchers, HiRO is focused on identifying phenotype-genotype correlations. HiRO has defined the investigation pathway for patients with possible genetically mediated cardiac arrest, and has had major impact on our understanding of familial sudden death. However, because many of the Canadian clinics lack a system of care or embedded research, it is difficult to translate novel discoveries to improved care. This current protocol provides a system wide mechanism to allow the national investigator group to work together more efficiently to ensure the inclusion of all Canadians affected by the inherited causes of SCD to help ensure standardized quality care for this population in all provinces with embedded opportunity for all individuals to participate in research.
Background:
Inherited Heart rhythm disorders include arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) and Long QT Syndrome (LQTS). They affect one in 200 Canadians and can result in tragic sudden cardiac death (SCD), reduced quality of life and productivity, and high health care expenditure. SCD kills 30,000 Canadians/year. Importantly, clinical screening for at-risk individuals has tremendous potential for timely monitoring and treatment. Treatment typically involves lifestyle modifications, such as avoidance of strenuous exercise, drugs that may worsen the phenotype or medical therapy with beta-blockers or quinidine which can provide substantial protection from SCD. Patients who have cardiac events while on medical therapy, have suffered an unexplained cardiac arrest (UCA), or are deemed sufficiently high risk are offered an implantable cardioverter defibrillator (ICD). ICD therapy provides protection however, it is commonly associated with life-long device related complications.
Patients reviewed in partnering HiRO, Inherited Heart Rhythm Clinics will be invited to participate in the registry.
Optional bio bank participation:
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All Canadian patients referred for cardiac investigations related to inherited heart rhythm (IHR) conditions will be invited to participate if they meet the following criteria:
- •They understand the registry/bio bank purpose, potential risks and willingly sign consent
- •Recognized genetic syndromes; Long QT syndrome (LQT), Short QT Syndrome (SQT), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada (BrS), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Familial Cardiac Conduction Disease (FCCD).
- •Deceased cases of SCD, suspicious for an inherited heart rhythm condition. Included with signed consent from next of kin (NOK).
- •IHR patients referred for risk of SCD enrolled (includes first degree and second degree relatives) SCD syndromes seen in heart rhythm clinics; Unexplained cardiac arrest (UCA), Early Repolarization (ER), Idiopathic Ventricular Fibrillation (IVF), Short Coupled IVF (SCIF), Polymorphic Ventricular Tachycardia Not Otherwise Diagnosed (PMVT, NYD), Sudden Arrhythmic Death Syndromes (SADS) that are SCD cases with negative autopsy results.
- •Mendelian cardiomyopathies (hypertrophic cardiomyopathy (HCM), Mendelian Dilated Cardiomyopathy (DCM) including Lamin and Phosopholambin (LMNA, & PLN), and Left Ventricular Non -Compaction (LVNC).
- •**Must have either a probable or definite clinical diagnosis, first degree relative (FDR) with a known diagnosis, gene carrier (disease causing or likely disease causing by American College of Medical Genetics (ACMG 2015), or may be second degree relative (SDR) with inability to screen intervening relative
- •Carriers of a pathogenic or likely-pathogenic variant for an inherited arrhythmia or cardiomyopathy related gene, not otherwise fitting inherited or cardiomyopathy diagnostic criteria
- •Patients referred for cardiac investigations related to inherited heart rhythm conditions will be excluded from participating if they meet the following criteria:
- •Unwilling or are unable to provide informed consent
- •Known sarcoidosis
- •Mitral valve Prolapse unless unexplained cardiac arrest or syncope with documented PMVT
- •Heart Failure/Non-Familial Dilated Cardiomyopathy DCM without a positive family history of affected FDRs or SDRs
- •Aortopathies including Marfan Syndrome, Ehlers Danlos, Familial Thoracic Aortic Aneurysm and Dissection
- •Neuromuscular disease
- •Familial hypercholesterolemia
排除标准
- 未提供
结局指标
主要结局
Create a Canadian Research Data base and Bio bank for those affected by inherited heart rhythm conditions.
时间窗: November 2019 - June 2025
To build a data registry and bio bank of 10,000.00 inherited heart rhythm cases
次要结局
未报告次要终点
研究者
Andrew Krahn
Professor
University of British Columbia