<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/NCT04419090</url>
  </required_header>
  <id_info>
    <org_study_id>2020-01271</org_study_id>
    <nct_id>NCT04419090</nct_id>
  </id_info>
  <brief_title>Cascade Genetic Testing of Familial Hypercholesterolemia</brief_title>
  <acronym>CATCH</acronym>
  <official_title>Cascade Genetic Testing of Familial Hypercholesterolemia: the CATCH Multicenter Randomized Controlled Trial</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Swiss Heart Foundation</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Familial hypercholesterolemia (FH) is a frequent genetic disorder (1/200) associated with an&#xD;
      increased risk of early-onset myocardial infarction. To improve detection and treatment of&#xD;
      patient with FH, cascade genetic testing in families is recommended by many cardiovascular&#xD;
      prevention guidelines. However, the implementation of national genetic cascade screening is&#xD;
      challenging, because legal protection to guarantee privacy of data do not authorize&#xD;
      physicians to directly contact at-risk relatives. Using current mobile information&#xD;
      technologies and a centralized web-based platform, we designed an ethical genetic cascade&#xD;
      screening program for FH to be tested in Switzerland.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">November 10, 2020</start_date>
  <completion_date type="Anticipated">December 2024</completion_date>
  <primary_completion_date type="Anticipated">December 2023</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Randomized</allocation>
    <intervention_model>Factorial Assignment</intervention_model>
    <primary_purpose>Screening</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>the yield of detection of familial hypercholesterolemia (FH)</measure>
    <time_frame>2 years</time_frame>
    <description>The yield of detection is the number of test performed/number of contactable relatives.</description>
  </primary_outcome>
  <number_of_arms>4</number_of_arms>
  <enrollment type="Anticipated">400</enrollment>
  <condition>Familial Hypercholesterolemia</condition>
  <arm_group>
    <arm_group_label>Monogenic positive FH, direct contact</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
  </arm_group>
  <arm_group>
    <arm_group_label>Monogenic positive FH, usual care</arm_group_label>
    <arm_group_type>No Intervention</arm_group_type>
  </arm_group>
  <arm_group>
    <arm_group_label>Monogenic negative FH, direct contact</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
  </arm_group>
  <arm_group>
    <arm_group_label>Monogenic negative FH, usual care</arm_group_label>
    <arm_group_type>No Intervention</arm_group_type>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>web-based centralized service and message</intervention_name>
    <description>Perform three cycles of cascade screening through several generation of family members of an index case. The contact of relatives will be initiated by the index case and supported by a web-based centralized service. The index case will be provided with a prepared email or Whatsapp message that the index case can further forward to his first-degree relatives. The email/message will contain a link to a secured web application with a code for the connection. By clicking on the link, the relative will connect to a specifically designed app. The app will provide information about the transmission mode of FH, the cardiovascular risk associated with FH and the way how to reduce this risk. The relative can then fill out information and provide agreement to be contacted for the study. The nearest specialized clinic will then contact the relative to organize further screening with similar processes.</description>
    <arm_group_label>Monogenic negative FH, direct contact</arm_group_label>
    <arm_group_label>Monogenic positive FH, direct contact</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  patients with severe hypercholesterolemia and familial or personal history of&#xD;
             early-onset cardiovascular disease = Dutch Lipid Clinic Network score (DLNC) &gt;= 6&#xD;
             points.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients without at least one contactable first-degree family members&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>5 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>David Nanchen, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>David Nanchen, MD</last_name>
    <phone>+41213146107</phone>
    <email>david.nanchen@unisante.ch</email>
  </overall_contact>
  <location>
    <facility>
      <name>Center for primary care and public health (Unisanté), University of Lausanne</name>
      <address>
        <city>Lausanne</city>
        <zip>1011</zip>
        <country>Switzerland</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>David Nanchen, MD</last_name>
      <email>david.nanchen@unisante.ch</email>
    </contact>
  </location>
  <location_countries>
    <country>Switzerland</country>
  </location_countries>
  <verification_date>May 2022</verification_date>
  <study_first_submitted>June 3, 2020</study_first_submitted>
  <study_first_submitted_qc>June 3, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">June 5, 2020</study_first_posted>
  <last_update_submitted>May 18, 2022</last_update_submitted>
  <last_update_submitted_qc>May 18, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">May 25, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </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>
  <patient_data>
    <sharing_ipd>Undecided</sharing_ipd>
  </patient_data>
  <!-- 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/NCT04419090
org study id: 2020-01271
nct id: NCT04419090
lead sponsor: 
collaborator: 
has dmc: Yes
is fda regulated drug: No
is fda regulated device: No
Familial hypercholesterolemia (FH) is a frequent genetic disorder (1/200) associated with an
      increased risk of early-onset myocardial infarction. To improve detection and treatment of
      patient with FH, cascade genetic testing in families is recommended by many cardiovascular
      prevention guidelines. However, the implementation of national genetic cascade screening is
      challenging, because legal protection to guarantee privacy of data do not authorize
      physicians to directly contact at-risk relatives. Using current mobile information
      technologies and a centralized web-based platform, we designed an ethical genetic cascade
      screening program for FH to be tested in Switzerland.
allocation: Randomized
intervention model: Factorial Assignment
primary purpose: Screening
masking: None (Open Label)
measure: the yield of detection of familial hypercholesterolemia (FH)
time frame: 2 years
description: The yield of detection is the number of test performed/number of contactable relatives.
arm group label: Monogenic positive FH, direct contact
arm group type: Experimental
arm group label: Monogenic positive FH, usual care
arm group type: No Intervention
arm group label: Monogenic negative FH, direct contact
arm group type: Experimental
arm group label: Monogenic negative FH, usual care
arm group type: No Intervention
intervention type: Other
intervention name: web-based centralized service and message
description: Perform three cycles of cascade screening through several generation of family members of an index case. The contact of relatives will be initiated by the index case and supported by a web-based centralized service. The index case will be provided with a prepared email or Whatsapp message that the index case can further forward to his first-degree relatives. The email/message will contain a link to a secured web application with a code for the connection. By clicking on the link, the relative will connect to a specifically designed app. The app will provide information about the transmission mode of FH, the cardiovascular risk associated with FH and the way how to reduce this risk. The relative can then fill out information and provide agreement to be contacted for the study. The nearest specialized clinic will then contact the relative to organize further screening with similar processes.
arm group label: Monogenic negative FH, direct contact
arm group label: Monogenic positive FH, direct contact
criteria: 
gender: All
minimum age: 5 Years
maximum age: N/A
healthy volunteers: No
last name: David Nanchen, MD
role: Principal Investigator
affiliation: Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
last name: David Nanchen, MD
phone: +41213146107
email: david.nanchen@unisante.ch
facility: 
status: Recruiting
contact: 
country: Switzerland
responsible party type: Sponsor
mesh term: Hyperlipoproteinemia Type II
mesh term: Hypercholesterolemia
sharing ipd: Undecided