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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Patrick Couture, Laval University
ClinicalTrials.gov Identifier:
NCT02225340
First received: August 22, 2014
Last updated: NA
Last verified: August 2014
History: No changes posted
  Purpose

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.


Condition
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 Laval University:

Primary Outcome Measures:
  • Impact of PCSK9 on LDL-C concentrations [ Time Frame: Week 1 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Impact of PCSK9 on Lp(a) concentrations [ Time Frame: Week 1 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples Without DNA

Plasma


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)
Groups/Cohorts
Controls
Familial hypercholesterolemia

  Eligibility

Ages Eligible for Study:   18 Years to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

community sample

Criteria

Inclusion Criteria:

Subjects with familial hypercholesterolemia:

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

Controls:

  • 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
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT02225340

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

No publications provided

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

Additional relevant MeSH terms:
Hypercholesterolemia
Hyperlipoproteinemia Type II
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias

ClinicalTrials.gov processed this record on September 18, 2014