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

August 22, 2014 updated by: Patrick Couture, Laval University

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

348

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
      • Quebec, Canada, G1V 0A6
        • Institute of Nutrition and Functional Foods (INAF)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 65 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

community sample

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Controls
Familial hypercholesterolemia

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Impact of PCSK9 on LDL-C concentrations
Time Frame: Week 1
Week 1

Secondary Outcome Measures

Outcome Measure
Time Frame
Impact of PCSK9 on Lp(a) concentrations
Time Frame: Week 1
Week 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Laval University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2014

Primary Completion (Actual)

April 1, 2014

Study Completion (Actual)

April 1, 2014

Study Registration Dates

First Submitted

August 22, 2014

First Submitted That Met QC Criteria

August 22, 2014

First Posted (Estimate)

August 26, 2014

Study Record Updates

Last Update Posted (Estimate)

August 26, 2014

Last Update Submitted That Met QC Criteria

August 22, 2014

Last Verified

August 1, 2014

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • FH-PCSK9

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Familial Hypercholesterolemia

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Gabon

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe