Hearts in Rhythm Organization Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository (HiRO-HCM)
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 2,000
- 试验地点
- 13
- 主要终点
- Create a Canadian Research Database, a biobank and an imaging data repository for those affected by hypertrophic cardiomyopathy (HCM) or carrying a sarcomeric gene variant associated with HCM
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). The HiRO Hypertrophic Cardiomyopathy registry, biobank and imaging data repository (HiRO-HCM) is a multicenter study that will prospectively enroll patients with HCM as well as those carrying sarcomeric gene variants predisposing to HCM.
The objectives of HiRO-HCM are:
- to better understand the natural history of the disease and identify clinical markers and biomarkers for adverse outcomes;
- to derive and validate risk prediction models for disease expression, complications and response to therapy;
- to better define the genetic architecture of sarcomeric and non-sarcomeric HCM.
详细描述
PATIENT ENROLLMENT:
Eligible patients will be included from HiRO sites or collaborating centres. Patients will be contacted by the local investigator or a research coordinator. Willing individuals will be interviewed by the research coordinator and given information about HiRO-HCM. The consent form will be reviewed and discussed with the coordinator. The investigators will also be available for any questions that the coordinator is unable to answer. Potential participants will have sufficient time to consider participating in HiRO-HCM. Written informed consent will be obtained from eligible patients or legal guardians. Participants will be able to withdraw their participation at any time.
BASELINE DATA COLLECTION:
Clinical data will be collected from willing/consented registry participants. All demographic and medical information pertaining to the cardiac history and comorbidities of eligible patients will be collected at baseline, including clinical information, diagnostic test results, genetic testing results, family history and ethnicity, as well as current and previous treatments. Healthcare information will be coded in compliance with Canada's Tri-Council Policy Statement criteria: direct identifiers will be removed and replaced with a unique study code that does not use personal information such as the participant's health number, social insurance number or name. The coded data will be transferred into the clinical research database using a web-based electronic case report form (eCRF), using REDcap. The clinical research database will be managed by the Montreal Health Innovations Coordinating Center (MHICC; mhicc.org). Study participants will be identified by subject number only (research HiRO-HCM ID). The research ID uniquely identifying each subject eCRF within the database will be attributed in REDcap but the master list of registry participants with their study identifiers will be kept separately from the clinical research database. This master list will be stored in an encrypted file within the research office of each site investigators under their supervision. Only the site investigators and their local research staff will have access to this list.
BIOSPECIMEN COLLECTION:
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
- •Patients with (1) AND/OR (2)
- •Clinical diagnosis of HCM, defined as
- •maximal LVWT ≥15mm, or
- •maximal LVWT ≥13mm, in presence of a diagnosis of first degree relative with HCM, or
- •septal wall thickness with z-score >2 in a child
- •Carrier of a pathogenic or likely pathogenic genetic variant in a sarcomeric gene (ACTC1, FHOD3, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1). Variant classification should be performed by a certified diagnostic laboratory according to the American College of Medical Genetics and Genomics (ACMG) guidelines.
排除标准
- •Clinical or molecular diagnosis of Noonan syndrome or other Rasopathies
- •Clinical or molecular diagnosis of metabolic disease associated with cardiomyopathy, such as Pompe (GAA), Fabry (GLA), Danon (LAMP2), AMP-kinase (PRKAG2), and carnitine disorders
- •Clinical diagnosis of a neuromuscular disease associated with cardiomyopathy, such as Friedrich's ataxia
- •Clinical diagnosis of cardiac amyloidosis with or without the presence of genetic variants in TTR
- •Clinical or molecular diagnosis of mitochondrial cardiomyopathy
- •Diagnosis of HCM >65 years old AND absence of pathogenic or likely pathogenic variant in a sarcomeric gene (as defined in inclusion criterion 1B above)
- •History of myocardial infarction
- •History of moderate or severe aortic stenosis
- •History of congenital heart defects requiring percutaneous or surgical correction
- •History of severe hypertension defined as a systolic blood pressure >180 mmHg and/or diastolic blood pressure >110 mmHg AND absence of pathogenic or likely pathogenic variant in a sarcomeric gene (as defined in inclusion criterion 1B above)
- •Refusal to provide informed consent or to provide a biospecimen for DNA analysis
- •No possibility to upload transthoracic echocardiogram or cardiac magnetic resonance imaging for core lab interpretation
结局指标
主要结局
Create a Canadian Research Database, a biobank and an imaging data repository for those affected by hypertrophic cardiomyopathy (HCM) or carrying a sarcomeric gene variant associated with HCM
时间窗: 5 years
次要结局
未报告次要终点
研究者
Rafik Tadros
Cardiologist, Clinician Scientist
Montreal Heart Institute