Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository

NCT05100420 | Enrolling By Invitation

• 1 other identifier: MP-33-2021-2872
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 13

Brief Summary

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:

1. 1.to better understand the natural history of the disease and identify clinical markers and biomarkers for adverse outcomes;
2. 2.to derive and validate risk prediction models for disease expression, complications and response to therapy;
3. 3.to better define the genetic architecture of sarcomeric and non-sarcomeric HCM.

Conditions

Hypertrophic Cardiomyopathy; Hypertrophic Obstructive Cardiomyopathy; Familial Hypertrophic Cardiomyopathy; Cardiomyopathies

Keywords

Genetics; Echocardiography; Cardiac magnetic resonance imaging; Biomarker; Sudden cardiac death; Genome-wide association study; Risk prediction model

Outcome Measures

Primary Outcomes (1)

• 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

  5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The HiRO-HCM registry, biobank and imaging data repository is a multicenter collaboration that will prospectively enroll patients with HCM as well as those carrying genetic variants predisposing to HCM.

You may qualify if:

• 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
• AND/OR
• 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.

You may not qualify if:

• 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
• History of myocardial infarction
• History of moderate or severe aortic stenosis
• History of congenital heart defects requiring percutaneous or surgical correction
• 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

Sponsors & Collaborators

• Montreal Heart Institute: lead
• Canadian Institutes of Health Research (CIHR): collaborator

Study Sites (13)

Mazankowski Alberta Heart Institute

Edmonton, Alberta, Canada

Location

UBC St. Paul's Hospital

Vancouver, British Columbia, Canada

Location

Vancouver Island Health Authority

Victoria, British Columbia, Canada

Location

IWK Health Centre

Halifax, Nova Scotia, Canada

Location

Queen Elizabeth II Health Sciences Centre

Halifax, Nova Scotia, Canada

Location

McMaster University

Hamilton, Ontario, Canada

Location

London Health Sciences Centre

London, Ontario, Canada

Location

University of Ottawa Heart Institute

Ottawa, Ontario, Canada

Location

Centre Hospitalier de l'Université de Montréal (CHUM)

Montreal, Quebec, Canada

Location

Hôpital Ste-Justine

Montreal, Quebec, Canada

Location

McGill University Health Centre

Montreal, Quebec, Canada

Location

Montreal Heart Institute

Montreal, Quebec, Canada

Location

Institut Universitaire de Cardiologie et Pneumologie de Québec

Québec, Quebec, Canada

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA isolated from blood or saliva Plasma Myocardial tissue

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic; Cardiomyopathy, Hypertrophic, Familial; Cardiomyopathies; Death, Sudden, Cardiac

Condition Hierarchy (Ancestors)

Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heart Arrest; Death, Sudden; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Rafik Tadros, Dr.

  Montreal Heart Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Cardiologist, Clinician Scientist

Study Record Dates

• First Submitted: October 18, 2021
• First Posted: October 29, 2021
• Study Start: February 23, 2021
• Primary Completion: February 23, 2026
• Study Completion (Estimated): August 23, 2027
• Last Updated: October 30, 2023

Record last verified: 2023-10

Data Sharing

• IPD Sharing: Will not share

Locations

CA (13)