Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada (FHCanada)

This study is currently recruiting participants.
Verified December 2013 by McGill University Health Center
Information provided by (Responsible Party):
Jacques Genest, McGill University Health Center
ClinicalTrials.gov Identifier:
First received: November 21, 2013
Last updated: December 8, 2013
Last verified: December 2013

Familial hypercholesterolemia (FH) is the most frequent genetic lipoprotein disorder associated with premature CAD. In Canada, the burden of disease is estimated to be approximately 83,500 patients. The goal of this initiative is to create a registry of subjects with FH across Canada. Rare diseases of lipoprotein metabolism will also be included. Using a "hub and spoke" model, the registry will be extended in various communities to link primary care physicians with provincial academic centers. The registry will include clinical, biochemical and demographic information. Specimens (plasma/serum and DNA) will be collected for biobanking. We propose a three-tier registry: local, provincial and Canada-wide, which will be completely anonymized. The registry will be made available for clinicians to manage patient care, identify relatives for screening and treatment (cascade screening), to provide advice to general practitioners and to support collaborative studies in biomedical, clinical, health outcomes and health economics research. The data extracted for the provincial portion of the database will allow administrative database research that will provide important information to key stakeholders and permit allocation of resources. It will also allow a sound and uniform rationale for the use of novel therapeutic agents and provide expert advice to regulatory agencies. At the Canadian level, the database will allow clinicians and researchers to determine the burden of disease and the long-term effects of treatment. Through the creation of a Canada-wide network of academic clinics, integrating lipid specialists, endocrinologists and cardiologists, the Canadian FH registry will lead to significant benefits for FH patients, clinicians and researchers, biopharmaceutical industry and government.

Familial Hypercholesterolemia
Lipid Disorder

Study Type: Observational [Patient Registry]
Target Follow-Up Duration: 15 Years
Official Title: Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada

Resource links provided by NLM:

Further study details as provided by McGill University Health Center:

Primary Outcome Measures:
  • Number of Patients with FH [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Prevalence rates of FH in Canada [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Plasma and Buffy coat for DNA extraction DNA stock samples

Estimated Enrollment: 6000
Study Start Date: November 2013
Estimated Study Completion Date: November 2020
Estimated Primary Completion Date: November 2016 (Final data collection date for primary outcome measure)
  Show Detailed Description


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients from primary care clinics


Inclusion Criteria:

Diagnostic criteria for FH, which are:

  • Family and/or personal history of high cholesterol
  • Family and/or personal history of heart disease
  • Abnormal growth on tendons, accumulation of fatty material in the eye Family history of FH Severe disorder of cholesterol and other lipids in the blood

Exclusion Criteria:

No exclusion criterion

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT02009345

Contact: Isabelle Ruel, PhD 514-934-1934 ext 34852 isabelle.ruel@mcgill.ca

Canada, Quebec
Research Institute of the McGill University Health Centre: Royal Victoria Hospital Recruiting
Montreal, Quebec, Canada, H3A1A1
Contact: Isabelle Ruel, PhD    514-934-1934 ext 34258    isabelle.ruel@mcgill.ca   
Principal Investigator: Jacques Genest, MD         
Sponsors and Collaborators
McGill University Health Center
Principal Investigator: Jacques Genest, MD Research Institute of the McGill University Health Centre
  More Information

No publications provided

Responsible Party: Jacques Genest, Principal Investigator, McGill University Health Center
ClinicalTrials.gov Identifier: NCT02009345     History of Changes
Other Study ID Numbers: FH Canada
Study First Received: November 21, 2013
Last Updated: December 8, 2013
Health Authority: Canada: Ethics Review Committee

Keywords provided by McGill University Health Center:
Familial hypercholesterolemia,
High LDL-cholesterol
Coronary artery disease

Additional relevant MeSH terms:
Hyperlipoproteinemia Type II
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Lysosomal Storage Diseases

ClinicalTrials.gov processed this record on April 16, 2014