xml: <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/NCT06001957</url>
    </required_header>
    <id_info>
      <org_study_id>1072.6120.49.2022</org_study_id>
      <nct_id>NCT06001957</nct_id>
    </id_info>
    <brief_title>Whole Exome Sequencing in Coronary Artery Ectasia</brief_title>
    <official_title>Genetic Background Assessment With Whole Exome Sequencing in a Giant Coronary Artery Ectasia: a Pilot Study.</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Jagiellonian University</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
      <collaborator>
        <agency>Medical University of Warsaw</agency>
        <agency_class>Other</agency_class>
      </collaborator>
      <collaborator>
        <agency>Poznan University of Medical Sciences</agency>
        <agency_class>Other</agency_class>
      </collaborator>
    </sponsors>
    <source>Jagiellonian University</source>
    <oversight_info>
      <has_dmc>No</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>
        The goal of this observational study is to assess the role of the whole exome sequencing&#xD;
        (WES) application in patients with giant coronary artery ectasia (CAE) with a high-risk of&#xD;
        genetic background.&#xD;
  &#xD;
        The main question it aims to answer are:&#xD;
  &#xD;
          -  the assessment of role of WES in CAE&#xD;
  &#xD;
          -  the detection of novel pathogenic mutations associated with CAE development&#xD;
      </textblock>
    </brief_summary>
    <detailed_description>
      <textblock>
        Coronary artery aneurysm and ectasia (CAAE) is defined as a dilation of the coronary artery&#xD;
        by at least 1.5 times compared to the adjacent segment. The incidence of CAAE is reported in&#xD;
        0.3-5.3% of patients undergoing coronary angiography. Giant CAAE is a rare phenomenon&#xD;
        characterized by a dilation of a coronary artery exceeding 2 to 4 centimeters and it was&#xD;
        found only in 0.02% of patients undergoing coronary angiography.&#xD;
  &#xD;
        The most common etiology of CAAE is atherosclerosis, followed by Kawasaki disease, infectious&#xD;
        septic emboli, connective tissue disease and arteritis. Iatrogenic causes are less common.&#xD;
  &#xD;
        There are few genetic reports on potential loci associated with CAAE. Meta-analysis of genome&#xD;
        wide association studies performed in European and Japanese population of children with&#xD;
        Kawasaki disease has identified ITPKC, FCGR2A, CASP3 and FAM167A genomic regions to be&#xD;
        associated with susceptibility to develop CAAE. Furthermore, 9p21 variant has been linked&#xD;
        with coexistence of coronary artery disease, cerebral artery aneurysms and aortic aneurysms,&#xD;
        mainly due to suspected potential adverse vascular remodeling. Nevertheless, the direct&#xD;
        association of specific genetic variants with CAAE formation, especially with those giants,&#xD;
        has not been proven.&#xD;
  &#xD;
        Therefore, the investigators aim to assess the role of the whole exome sequencing (WES)&#xD;
        application in patients with giant coronary artery ectasia (CAE) with a high-risk of genetic&#xD;
        background.&#xD;
      </textblock>
    </detailed_description>
    <overall_status>Completed</overall_status>
    <start_date type="Actual">March 23, 2022</start_date>
    <completion_date type="Actual">August 15, 2023</completion_date>
    <primary_completion_date type="Actual">June 11, 2023</primary_completion_date>
    <study_type>Observational</study_type>
    <has_expanded_access>No</has_expanded_access>
    <study_design_info>
      <observational_model>Case-Only</observational_model>
      <time_perspective>Prospective</time_perspective>
    </study_design_info>
    <primary_outcome>
      <measure>The novel pathogenic mutations associated with CAE development</measure>
      <time_frame>Until June 11, 2023</time_frame>
      <description>Reads of WES will be aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.</description>
    </primary_outcome>
    <number_of_groups>1</number_of_groups>
    <enrollment type="Actual">1</enrollment>
    <condition>Coronary Ectasia</condition>
    <condition>Coronary Aneurysm</condition>
    <arm_group>
      <arm_group_label>Proband</arm_group_label>
      <description>Patient with extremely giant coronary artery ectasia (CAE) and positive family history</description>
    </arm_group>
    <intervention>
      <intervention_type>Diagnostic Test</intervention_type>
      <intervention_name>Whole exome sequencing</intervention_name>
      <description>Bioinformatic analysis of raw WES data and variants prioritization were performed as previously described.&#xD;
  Reads were aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.</description>
      <arm_group_label>Proband</arm_group_label>
      <other_name>Genetic analysis</other_name>
    </intervention>
    <biospec_retention>Samples With DNA</biospec_retention>
    <biospec_descr>
      <textblock>
        DNA from proband was obtained from peripheral blood and extracted using standard protocols.&#xD;
      </textblock>
    </biospec_descr>
    <eligibility>
      <study_pop>
        <textblock>
          Patient with extremely giant coronary artery ectasia (CAE) and positive family history.&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Non-Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
            -  diagnosed giant coronary artery aneurysm and ectasia (CAAE)&#xD;
  &#xD;
            -  high risk of genetic background&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            -  the lack of informed consent for whole exome sequencing (WES) analysis&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>18 Years</minimum_age>
      <maximum_age>80 Years</maximum_age>
      <healthy_volunteers>No</healthy_volunteers>
    </eligibility>
    <location>
      <facility>
        <name>Department of Coronary Disease and Heart Failure, John Paul II Hospital in Krakow, Jagiellonian University Medical College</name>
        <address>
          <city>Kraków</city>
          <zip>31-202</zip>
          <country>Poland</country>
        </address>
      </facility>
    </location>
    <location_countries>
      <country>Poland</country>
    </location_countries>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>August 15, 2023</study_first_submitted>
    <study_first_submitted_qc>August 18, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 21, 2023</study_first_posted>
    <last_update_submitted>August 18, 2023</last_update_submitted>
    <last_update_submitted_qc>August 18, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 21, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Principal Investigator</responsible_party_type>
      <investigator_affiliation>Jagiellonian University</investigator_affiliation>
      <investigator_full_name>Konrad Stępień</investigator_full_name>
      <investigator_title>Principal Investigator, MD, Assistant</investigator_title>
    </responsible_party>
    <keyword>Coronary ectasia</keyword>
    <keyword>Coronary aneurysm</keyword>
    <keyword>Whole exome sequencing</keyword>
    <keyword>Mutations</keyword>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Aneurysm</mesh_term>
      <mesh_term>Coronary Aneurysm</mesh_term>
      <mesh_term>Dilatation, Pathologic</mesh_term>
    </condition_browse>
    <patient_data>
      <sharing_ipd>No</sharing_ipd>
    </patient_data>
    <!-- Results have not yet been posted for this study                                          -->
  </clinical_study>
  
  
text: 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/NCT06001957
  org study id: 1072.6120.49.2022
  nct id: NCT06001957
  lead sponsor: 
  collaborator: 
  collaborator: 
  has dmc: No
  is fda regulated drug: No
  is fda regulated device: No
  The goal of this observational study is to assess the role of the whole exome sequencing
        (WES) application in patients with giant coronary artery ectasia (CAE) with a high-risk of
        genetic background.
  
        The main question it aims to answer are:
  
          -  the assessment of role of WES in CAE
  
          -  the detection of novel pathogenic mutations associated with CAE development
  Coronary artery aneurysm and ectasia (CAAE) is defined as a dilation of the coronary artery
        by at least 1.5 times compared to the adjacent segment. The incidence of CAAE is reported in
        0.3-5.3% of patients undergoing coronary angiography. Giant CAAE is a rare phenomenon
        characterized by a dilation of a coronary artery exceeding 2 to 4 centimeters and it was
        found only in 0.02% of patients undergoing coronary angiography.
  
        The most common etiology of CAAE is atherosclerosis, followed by Kawasaki disease, infectious
        septic emboli, connective tissue disease and arteritis. Iatrogenic causes are less common.
  
        There are few genetic reports on potential loci associated with CAAE. Meta-analysis of genome
        wide association studies performed in European and Japanese population of children with
        Kawasaki disease has identified ITPKC, FCGR2A, CASP3 and FAM167A genomic regions to be
        associated with susceptibility to develop CAAE. Furthermore, 9p21 variant has been linked
        with coexistence of coronary artery disease, cerebral artery aneurysms and aortic aneurysms,
        mainly due to suspected potential adverse vascular remodeling. Nevertheless, the direct
        association of specific genetic variants with CAAE formation, especially with those giants,
        has not been proven.
  
        Therefore, the investigators aim to assess the role of the whole exome sequencing (WES)
        application in patients with giant coronary artery ectasia (CAE) with a high-risk of genetic
        background.
  observational model: Case-Only
  time perspective: Prospective
  measure: The novel pathogenic mutations associated with CAE development
  time frame: Until June 11, 2023
  description: Reads of WES will be aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.
  arm group label: Proband
  description: Patient with extremely giant coronary artery ectasia (CAE) and positive family history
  intervention type: Diagnostic Test
  intervention name: Whole exome sequencing
  description: Bioinformatic analysis of raw WES data and variants prioritization were performed as previously described.
  Reads were aligned to the hg38 reference genome sequence and visualized by Integrative Genomic Viewer.
  arm group label: Proband
  other name: Genetic analysis
  DNA from proband was obtained from peripheral blood and extracted using standard protocols.
  study pop: 
  sampling method: Non-Probability Sample
  criteria: 
  gender: All
  minimum age: 18 Years
  maximum age: 80 Years
  healthy volunteers: No
  facility: 
  country: Poland
  responsible party type: Principal Investigator
  investigator affiliation: Jagiellonian University
  investigator full name: Konrad Stępień
  investigator title: Principal Investigator, MD, Assistant
  mesh term: Aneurysm
  mesh term: Coronary Aneurysm
  mesh term: Dilatation, Pathologic
  sharing ipd: No