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NCT Number: NCT02225340

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

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.

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Key information

Conditions

Familial Hypercholesterolemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Genetic Diseases, Inborn Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

18 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Institute of Nutrition and Functional Foods (INAF)

Québec, Quebec, G1V 0A6, Canada

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Impact of PCSK9 on LDL-C concentrations

    Time frame: Week 1

Secondary outcomes

  1. Impact of PCSK9 on Lp(a) concentrations

    Time frame: Week 1

Sponsors and collaborators

Lead sponsor

Laval University

Other

Registry information

Important dates

Study start
2014
Primary completion
2014
Study completion
2014
First posted
Aug 26, 2014
Registry last updated
Aug 26, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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