Registry Following People With Hypertrophic Cardiomyopathy and Heart Gene Variants
Collects health data and samples from people with thickened heart muscle or related gene changes.
Plain-language title generated from the registry record
Registry title: Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository
Key facts
- Where
- Edmonton, Halifax, Hamilton, Kingston, London, Montreal, Ottawa, Québec, Saskatoon, Vancouver, Victoria, and Winnipeg, CanadaSee the 17 sites
AI summary: who the study is looking for
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with hypertrophic cardiomyopathy (HCM), a thickening of the heart muscle, and for people who carry a disease-causing change in an HCM-related gene.
- Sex
- All sexes can join.
- Disease stage
- A clinical diagnosis of HCM: heart wall thickness of 15mm or more, or 13mm or more if a close relative has HCM. In a child, a septal wall thickness z-score above 2.
- Biomarker or test result
- Or being a carrier of a pathogenic or likely pathogenic variant in a sarcomeric gene (ACTC1, FHOD3, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1).
Main reasons for not taking part
- Noonan syndrome or other Rasopathies
- Metabolic, neuromuscular, mitochondrial or amyloid heart disease (for example Pompe, Fabry, Danon, cardiac amyloidosis)
- Past heart attack, moderate or severe aortic stenosis, or congenital heart defect needing repair
- HCM diagnosed after age 65 without a sarcomeric gene variant
- Refusing consent or a sample for DNA analysis, or heart images that cannot be uploaded
Read by machine on 12 November 2026.
Where in Canada
- Mazankowski Alberta Heart InstituteEdmonton, CanadaContact: Gavin Oudit (principal investigator)Taking people
- IWK Health CentreHalifax, CanadaContact: Santokh Dhillon (principal investigator)Taking people
- Queen Elizabeth II, Health Sciences CentreHalifax, CanadaContact: David Lee (principal investigator)Taking people
- McMaster UniversityHamilton, CanadaContact: Jason D Roberts (principal investigator)Taking people
- Kingston Health Sciences CentreKingston, CanadaContact: Amer Johri, MD (principal investigator)Not yet recruiting
- London Health Sciences CentreLondon, CanadaContact: Habib Khan (principal investigator)Taking people
- Centre Hospitalier de l'Universite de Montreal (CHUM)Montreal, CanadaContact: François Tournoux (principal investigator)Taking people
- Hôpital du Sacré-Cœur de MontréalMontreal, CanadaContact: Ann LangloisTaking people
- Hôpital Ste-JustineMontreal, CanadaContact: Anne Fournier (principal investigator)Taking people
- McGill University Health CentreMontreal, CanadaContact: Jacqueline Joza (principal investigator)Taking people
- Montreal Heart InstituteMontreal, CanadaContact: Rafik Tadros (principal investigator)Taking people
- University of Ottawa Heart InstituteOttawa, CanadaContact: Thi Kim Hanh Nguyen (principal investigator)Taking people
- Institut Universitaire de Cardiologie et Pneumologie de QuebecQuébec, CanadaContact: Christian Steinberg (principal investigator)Taking people
- Jim Pattison Children's Hospital and Royal University HospitalSaskatoon, CanadaContact: Brandon Chalazan, MD PhD (principal investigator)Not yet recruiting
- UBC St. Paul's HospitalVancouver, CanadaContact: Zachary Laksman (sub-investigator)Taking people
- Vancouver Island Health AuthorityVictoria, CanadaContact: Martin van Zyl (principal investigator)Taking people
- St. Boniface HospitalWinnipeg, CanadaContact: Colette Seifer, MD (principal investigator)Taking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorTrial details
- Who runs it
- Montreal Heart Institute
- Trial code
- NCT05100420
- Record updated
- 9 October 2026
- Original description
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.Read full original descriptionShow less
Hearts in Rhythm Organization Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository (HiRO-HCM)
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. to better understand the natural history of the disease and identify clinical markers and biomarkers for adverse outcomes; 2. to derive and validate risk prediction models for disease expression, complications and response to therapy; 3. to better define the genetic architecture of sarcomeric and non-sarcomeric HCM.
Inclusion: 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.
Exclusion: 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; 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); No possibility to upload transthoracic echocardiogram or cardiac magnetic resonance imaging for core lab interpretation; 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); Clinical or molecular diagnosis of mitochondrial cardiomyopathy; Refusal to provide informed consent or to provide a biospecimen for DNA analysis.