<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT02225340</url>
  </required_header>
  <id_info>
    <org_study_id>FH-PCSK9</org_study_id>
    <nct_id>NCT02225340</nct_id>
  </id_info>
  <brief_title>Relationships Between Plasma PCSK9 Levels, LDL-cholesterol Concentrations and Lipoprotein (a) Levels in Familial Hypercholesterolemia</brief_title>
  <official_title>Relationships Between Plasma PCSK9 Levels, LDL-cholesterol Concentrations and Lipoprotein (a) Levels in Familial Hypercholesterolemia</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Laval University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Laval University</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Familial hypercholesterolemia (FH) is an autosomal codominant single gene disorder caused by&#xD;
      mutations in the LDL receptor gene (LDLR) that disrupt the normal clearance of LDL particles&#xD;
      from the plasma. Heterozygous patients (HeFH) present a two- to three-fold raise in plasma&#xD;
      LDL-cholesterol (LDL-C) concentrations and coronary artery disease occurs earlier among HeFH&#xD;
      carrying negative-receptor (NR) mutations as compared with HeFH subjects carrying&#xD;
      defective-receptor (DR) variants. Proprotein convertase subtilisin/kexin type 9 (PCSK9)&#xD;
      regulates LDL-C levels by binding to LDLR and by enhancing its intracellular degradation.&#xD;
&#xD;
      The objective of this study is to examine to what extent variations in LDL-C and Lipoprotein&#xD;
      (Lp) (a) concentrations are related to PCSK9 levels in a large French-Canadian cohort of HeFH&#xD;
      subjects.&#xD;
&#xD;
      The primary hypothesis is that that PCSK9 levels have a significant impact on LDL-C&#xD;
      concentration variability and are associated with Lp(a) levels.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>January 2014</start_date>
  <completion_date type="Actual">April 2014</completion_date>
  <primary_completion_date type="Actual">April 2014</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Control</observational_model>
    <time_perspective>Cross-Sectional</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Impact of PCSK9 on LDL-C concentrations</measure>
    <time_frame>Week 1</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Impact of PCSK9 on Lp(a) concentrations</measure>
    <time_frame>Week 1</time_frame>
  </secondary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">348</enrollment>
  <condition>Familial Hypercholesterolemia</condition>
  <arm_group>
    <arm_group_label>Controls</arm_group_label>
  </arm_group>
  <arm_group>
    <arm_group_label>Familial hypercholesterolemia</arm_group_label>
  </arm_group>
  <biospec_retention>Samples Without DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Plasma&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        community sample&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        Subjects with familial hypercholesterolemia:&#xD;
&#xD;
          -  Aged between 18-65 years&#xD;
&#xD;
          -  Carrier of a mutation in the LDL receptor gene&#xD;
&#xD;
        Controls:&#xD;
&#xD;
          -  Aged between 18-60 years&#xD;
&#xD;
          -  HDL-cholesterol &gt; 1.1 mmol/L&#xD;
&#xD;
          -  Triglycerides &lt; 1.7 mmol/L&#xD;
&#xD;
          -  Fasting blood glucose &lt;6.1 mmol/L&#xD;
&#xD;
          -  Normal blood pressure (&lt;130/85)&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Subjects with a previous history of cardiovascular disease&#xD;
&#xD;
          -  Subjects with Type 2 diabetes&#xD;
&#xD;
          -  Were pregnant or nursing;&#xD;
&#xD;
          -  Subjects with a history of cancer&#xD;
&#xD;
          -  Subjects with acute liver disease, hepatic dysfunction, or persistent elevations of&#xD;
             serum transaminases&#xD;
&#xD;
          -  Subjects with a secondary hyperlipidemia due to any cause&#xD;
&#xD;
          -  History of alcohol or drug abuse within the past 2 years&#xD;
&#xD;
          -  hormonal treatment&#xD;
&#xD;
          -  Subjects who are in a situation or have any condition that, in the opinion of the&#xD;
             investigator, may interfere with optimal participation in the study&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>65 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Patrick Couture, MD, FRCP, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Laval University</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Institute of Nutrition and Functional Foods (INAF)</name>
      <address>
        <city>Quebec</city>
        <zip>G1V 0A6</zip>
        <country>Canada</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Canada</country>
  </location_countries>
  <verification_date>August 2014</verification_date>
  <study_first_submitted>August 22, 2014</study_first_submitted>
  <study_first_submitted_qc>August 22, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 26, 2014</study_first_posted>
  <last_update_submitted>August 22, 2014</last_update_submitted>
  <last_update_submitted_qc>August 22, 2014</last_update_submitted_qc>
  <last_update_posted type="Estimate">August 26, 2014</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Laval University</investigator_affiliation>
    <investigator_full_name>Patrick Couture</investigator_full_name>
    <investigator_title>MD, FRCP, PhD</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Hyperlipoproteinemia Type II</mesh_term>
    <mesh_term>Hypercholesterolemia</mesh_term>
  </condition_browse>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT02225340
org study id: FH-PCSK9
nct id: NCT02225340
lead sponsor: 
has dmc: No
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.
observational model: Case-Control
time perspective: Cross-Sectional
measure: Impact of PCSK9 on LDL-C concentrations
time frame: Week 1
measure: Impact of PCSK9 on Lp(a) concentrations
time frame: Week 1
arm group label: Controls
arm group label: Familial hypercholesterolemia
Plasma
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: 65 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Patrick Couture, MD, FRCP, PhD
role: Principal Investigator
affiliation: Laval University
facility: 
country: Canada
responsible party type: Principal Investigator
investigator affiliation: Laval University
investigator full name: Patrick Couture
investigator title: MD, FRCP, PhD
mesh term: Hyperlipoproteinemia Type II
mesh term: Hypercholesterolemia