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Relationships Between Plasma PCSK9 Levels, LDL-cholesterol Concentrations and Lipoprotein (a) Levels in Familial Hypercholesterolemia

This study has been completed.
Information provided by (Responsible Party):
Patrick Couture, Laval University Identifier:
First received: August 22, 2014
Last updated: NA
Last verified: August 2014
History: No changes posted

Familial hypercholesterolemia (FH) is an autosomal codominant single gene disorder caused by mutations in the LDL receptor gene (LDLR) that disrupt the normal clearance of LDL particles from the plasma. Heterozygous patients (HeFH) present a two- to three-fold raise in plasma LDL-cholesterol (LDL-C) concentrations and coronary artery disease occurs earlier among HeFH carrying negative-receptor (NR) mutations as compared with HeFH subjects carrying defective-receptor (DR) variants. Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates LDL-C levels by binding to LDLR and by enhancing its intracellular degradation.

The objective of this study is to examine to what extent variations in LDL-C and Lipoprotein (Lp) (a) concentrations are related to PCSK9 levels in a large French-Canadian cohort of HeFH subjects.

The primary hypothesis is that that PCSK9 levels have a significant impact on LDL-C concentration variability and are associated with Lp(a) levels.

Familial Hypercholesterolemia

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Relationships Between Plasma PCSK9 Levels, LDL-cholesterol Concentrations and Lipoprotein (a) Levels in Familial Hypercholesterolemia

Resource links provided by NLM:

Further study details as provided by Patrick Couture, Laval University:

Primary Outcome Measures:
  • Impact of PCSK9 on LDL-C concentrations [ Time Frame: Week 1 ]

Secondary Outcome Measures:
  • Impact of PCSK9 on Lp(a) concentrations [ Time Frame: Week 1 ]

Biospecimen Retention:   Samples Without DNA

Enrollment: 348
Study Start Date: January 2014
Study Completion Date: April 2014
Primary Completion Date: April 2014 (Final data collection date for primary outcome measure)
Familial hypercholesterolemia


Ages Eligible for Study:   18 Years to 65 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
community sample

Inclusion Criteria:

Subjects with familial hypercholesterolemia:

  • Aged between 18-65 years
  • Carrier of a mutation in the LDL receptor gene


  • Aged between 18-60 years
  • HDL-cholesterol > 1.1 mmol/L
  • Triglycerides < 1.7 mmol/L
  • Fasting blood glucose <6.1 mmol/L
  • Normal blood pressure (<130/85)

Exclusion Criteria:

  • Subjects with a previous history of cardiovascular disease
  • Subjects with Type 2 diabetes
  • Were pregnant or nursing;
  • Subjects with a history of cancer
  • Subjects with acute liver disease, hepatic dysfunction, or persistent elevations of serum transaminases
  • Subjects with a secondary hyperlipidemia due to any cause
  • History of alcohol or drug abuse within the past 2 years
  • hormonal treatment
  • Subjects who are in a situation or have any condition that, in the opinion of the investigator, may interfere with optimal participation in the study
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Please refer to this study by its identifier: NCT02225340

Institute of Nutrition and Functional Foods (INAF)
Quebec, Canada, G1V 0A6
Sponsors and Collaborators
Laval University
Principal Investigator: Patrick Couture, MD, FRCP, PhD Laval University
  More Information

Responsible Party: Patrick Couture, MD, FRCP, PhD, Laval University Identifier: NCT02225340     History of Changes
Other Study ID Numbers: FH-PCSK9
Study First Received: August 22, 2014
Last Updated: August 22, 2014

Additional relevant MeSH terms:
Hyperlipoproteinemia Type II
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias processed this record on September 21, 2017