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

Familial Hypercholesterolemia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02225340
• Other study ID #: FH-PCSK9
• Status: Completed
• Phase: N/A
• First received: August 22, 2014
• Last updated: August 22, 2014
• Start date: January 2014
• Est. completion date: April 2014

Study information

• Verified date: August 2014
• Source: Laval University
• Contact: n/a
• Is FDA regulated: No
• Health authority: Canada: Health Canada
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 348
• Est. completion date: April 2014
• Est. primary completion date: April 2014
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years to 65 Years

Eligibility

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 Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Locations

Country	Name	City	State
Canada	Institute of Nutrition and Functional Foods (INAF)	Quebec

Sponsors (1)

Lead Sponsor	Collaborator
Laval University

Country where clinical trial is conducted

Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Impact of PCSK9 on LDL-C concentrations		Week 1	No
Secondary	Impact of PCSK9 on Lp(a) concentrations		Week 1	No