NCT02225340

Brief Summary

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
348

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jan 2014

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2014

Completed
3 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2014

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2014

Completed
5 months until next milestone

First Submitted

Initial submission to the registry

August 22, 2014

Completed
4 days until next milestone

First Posted

Study publicly available on registry

August 26, 2014

Completed
Last Updated

August 26, 2014

Status Verified

August 1, 2014

Enrollment Period

3 months

First QC Date

August 22, 2014

Last Update Submit

August 22, 2014

Conditions

Familial Hypercholesterolemia

Outcome Measures

Primary Outcomes (1)

  • Impact of PCSK9 on LDL-C concentrations

    Week 1

Secondary Outcomes (1)

  • Impact of PCSK9 on Lp(a) concentrations

    Week 1

Study Arms (2)

Controls

Familial hypercholesterolemia

Eligibility Criteria

Age18 Years - 65 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

community sample

You may qualify if:

  • 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)

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Institute of Nutrition and Functional Foods (INAF)

Québec, Quebec, G1V 0A6, Canada

Location

Related Publications (1)

  • Drouin-Chartier JP, Hogue JC, Tremblay AJ, Bergeron J, Lamarche B, Couture P. The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels. Lipids Health Dis. 2017 Jun 15;16(1):119. doi: 10.1186/s12944-017-0502-x.

    PMID: 28619117DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHyperlipoproteinemiasHyperlipidemiasDyslipidemiasLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Patrick Couture, MD, FRCP, PhD

    Laval University

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
MD, FRCP, PhD

Study Record Dates

First Submitted

August 22, 2014

First Posted

August 26, 2014

Study Start

January 1, 2014

Primary Completion

April 1, 2014

Study Completion

April 1, 2014

Last Updated

August 26, 2014

Record last verified: 2014-08

Locations

CA(1)