Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada

NCT02009345 | Recruiting

• 1 other identifier: FH Canada
• Study Type: observational
• Target: 6,000
• Locations: 1 country
• Sites: 1

Brief Summary

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 are also included. Using a "hub and spoke" model, the registry extends in various communities to link primary care physicians with provincial academic centers. The registry includes clinical, biochemical and demographic information. Specimens (plasma/serum and DNA) are collected for biobanking. The "local" portion of the registry is available for clinicians to manage patient care, and identify relatives for screening and treatment (cascade screening). The Canada-wide registry, which is completely anonymized, will be made available 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.

Conditions

Familial Hypercholesterolemia; Lipid Disorder

Keywords

Familial hypercholesterolemia,; High LDL-cholesterol; Registry; Coronary artery disease

Outcome Measures

Primary Outcomes (1)

• Number of Patients with FH

  Absolute Number of patients enrolled in the registry, i.e. number of patients with FH diagnosed in Canada (n = xxx) in 10 years of enrolment.

  From date of start of the study until date of data analysis (expected December 2025) so within the first 10 years of the regisrtry.

Secondary Outcomes (1)

• Prevalence rates of FH in Canada

  From date of start of the study until date of data analysis (expected December 2025) so within the first 10 years of the regisrtry.

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

Patients from primary care clinics

You may qualify if:

• Clinical 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

Sponsors & Collaborators

• McGill University Health Centre/Research Institute of the McGill University Health Centre: lead
• Amgen: collaborator
• Sanofi: collaborator
• Pfizer: collaborator
• Merck Sharp & Dohme LLC: collaborator
• Valeant Canada Limited: collaborator
• Aegerion Pharmaceuticals, Inc.: collaborator

Study Sites (1)

Research Institute of the McGill University Health Centre: Glen site

Montreal, Quebec, H4A3J1, Canada

RECRUITING

Related Publications (1)

• Guerin A, Iatan I, Ruel I, Ngufor LF, Genest J. Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study. CMAJ Open. 2023 Aug 22;11(4):E754-E764. doi: 10.9778/cmajo.20220108. Print 2023 Jul-Aug.

  PMID: 37607748 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Plasma and Buffy coat for DNA extraction DNA stock samples

MeSH Terms

Conditions

Hyperlipoproteinemia Type II; Lipid Metabolism Disorders; Coronary Artery Disease

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Metabolic Diseases; Nutritional and Metabolic Diseases; Coronary Disease; Myocardial Ischemia; Heart Diseases; Cardiovascular Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Vascular Diseases

Study Officials

• Jacques Genest, MD

  Research Institute of the McGill University Health Centre

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Isabelle Ruel, PhD

CONTACT

514-934-1934; isabelle.ruel@mail.mcgill.ca

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: November 21, 2013
• First Posted: December 12, 2013
• Study Start: November 1, 2013
• Primary Completion: November 1, 2025
• Study Completion (Estimated): November 1, 2028
• Last Updated: October 4, 2023

Record last verified: 2023-10

Locations

CA (1)