<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/NCT04485598</url>
  </required_header>
  <id_info>
    <org_study_id>CNSR3-ngs-eos</org_study_id>
    <nct_id>NCT04485598</nct_id>
  </id_info>
  <brief_title>Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel</brief_title>
  <acronym>MDEOS</acronym>
  <official_title>Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Beijing Tiantan Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Beijing Municipal Science &amp; Technology Commission</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Beijing Tiantan Hospital</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The study was designed as a multicenter multiracial prospective observational study of acute&#xD;
      ischemic stroke and TIA patients across china. The purpose of this study is to determine the&#xD;
      monogenic disorders incidence of Chinese early-onset stroke patients. We plan to&#xD;
      consecutively enroll more than 500 patients with early-onset stroke(in the 18- to 45-year age&#xD;
      range) admitted in stroke units within 7 days after symptoms onset in participating centers.&#xD;
      These early-onset stroke patients are referred for targeted sequencing using 'cerebrovascular&#xD;
      disease panel'. By analyzing the sequencing results, we intend to identify monogenic causes&#xD;
      causing early-onset stroke and develop clinical algorithms that might assist the clinician in&#xD;
      deciding in which early-onset stroke patients testing for monogenic causes of stroke.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The study was designed as a multicenter multiracial prospective observational study of acute&#xD;
      ischemic stroke and TIA patients across china. The purpose of this study is to determine the&#xD;
      monogenic disorders incidence of Chinese early-onset stroke patients. We plan to&#xD;
      consecutively enroll more than 500 patients with early-onset stroke(in the 18- to 45-year age&#xD;
      range) admitted in stroke units within 7 days after symptoms onset in participating centers.&#xD;
      Patients fulfilling all of the inclusion criteria and none of the exclusion criteria will be&#xD;
      referred for targeted sequencing using 'cerebrovascular disease panel'. When one or multiple&#xD;
      pathogenic or possible pathogenic exonic mutations are found, a Sanger Sequencing (SS) on&#xD;
      somatic DNA from peripheral blood leukocyte of the index case and affected relatives will be&#xD;
      performed for the screening of the same mutations. And the sporadic patient's mutations will&#xD;
      be checked by SS in the unaffected family members. By analyzing the sequencing results, we&#xD;
      intend to identify monogenic causes causing early-onset stroke and develop clinical&#xD;
      algorithms that might assist the clinician in deciding in which early-onset stroke patients&#xD;
      testing for monogenic causes of stroke.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">August 21, 2015</start_date>
  <completion_date type="Actual">May 22, 2020</completion_date>
  <primary_completion_date type="Actual">May 22, 2020</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Percentage of patients with certain etiologic diagnosis established with targeted sequencing</measure>
    <time_frame>day 0</time_frame>
    <description>Percentage of patients with certain etiologic diagnosis established with targeted sequencing</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Obtained read depth according to number of pooled samples</measure>
    <time_frame>day 0</time_frame>
    <description>Obtained read depth according to number of pooled samples</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Percentage of patients with variant with unknown significance</measure>
    <time_frame>day 0</time_frame>
    <description>Percentage of patients with variant with unknown significance, needing supplementary analyses to prove its involvement in early-onset stroke</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Clinical phenotype for each gene for which a causal mutation is identified by targeted sequencing panel</measure>
    <time_frame>day 0</time_frame>
    <description>Clinical phenotype for each gene for which a causal mutation is identified by targeted sequencing panel</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Time of analysis of NGS raw data</measure>
    <time_frame>30 days</time_frame>
    <description>Time of analysis of NGS raw data</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Incidence of certain single-gene disorders in early-onset stroke patients</measure>
    <time_frame>day 0</time_frame>
    <description>Incidence of certain single-gene disorders in early-onset stroke patients</description>
  </secondary_outcome>
  <enrollment type="Actual">502</enrollment>
  <condition>Stroke, Acute</condition>
  <condition>Transient Ischemic Attack</condition>
  <condition>Single-gene Disorders</condition>
  <biospec_retention>None Retained</biospec_retention>
  <biospec_descr>
    <textblock>
      Genomic DNA was extracted from peripheral blood leukocytes,&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Acute ischemic stroke or Transient ischemic attack patients from participating centers over&#xD;
        China that can be enrolled within 7 days of symptoms onset defined by the&quot;last see&#xD;
        normal&quot;principle.Female or male aged ≥ 18 years and ≤ 45 years.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Provision of informed consent.&#xD;
&#xD;
          -  Female or male aged ≥ 18 years and ≤ 45 years.&#xD;
&#xD;
          -  Acute ischemic stroke or Transient ischemic attack((Neurological deficit attributed to&#xD;
             focal brain ischemia, with resolution of the deficit within 24 hours of symptom onset)&#xD;
             patients that can be enrolled within 7 days of symptoms onset defined by the&quot;last see&#xD;
             normal&quot;principle.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Asymptomatic brain infarction&#xD;
&#xD;
          -  Neurological deficit due to causes other than ischemic stroke or TIA&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>45 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Wei Li, M.D</last_name>
    <role>Principal Investigator</role>
    <affiliation>Beijing Tian Tan Hospital, Capital Medical University, Beijing, China</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Beijing Tian Tan Hospital, Capital Medical University</name>
      <address>
        <city>Beijing</city>
        <state>Beijing</state>
        <zip>100050</zip>
        <country>China</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>China</country>
  </location_countries>
  <verification_date>July 2020</verification_date>
  <study_first_submitted>July 21, 2020</study_first_submitted>
  <study_first_submitted_qc>July 21, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 24, 2020</study_first_posted>
  <last_update_submitted>July 21, 2020</last_update_submitted>
  <last_update_submitted_qc>July 21, 2020</last_update_submitted_qc>
  <last_update_posted type="Actual">July 24, 2020</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Beijing Tiantan Hospital</investigator_affiliation>
    <investigator_full_name>Yongjun Wang</investigator_full_name>
    <investigator_title>Executive Vice-President</investigator_title>
  </responsible_party>
  <keyword>Stroke</keyword>
  <keyword>Transient Ischemic Attack</keyword>
  <keyword>Targeted sequencing panel</keyword>
  <keyword>Early-onset</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Stroke</mesh_term>
    <mesh_term>Ischemic Attack, Transient</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/NCT04485598
org study id: CNSR3-ngs-eos
nct id: NCT04485598
lead sponsor: 
collaborator: 
has dmc: Yes
The study was designed as a multicenter multiracial prospective observational study of acute
      ischemic stroke and TIA patients across china. The purpose of this study is to determine the
      monogenic disorders incidence of Chinese early-onset stroke patients. We plan to
      consecutively enroll more than 500 patients with early-onset stroke(in the 18- to 45-year age
      range) admitted in stroke units within 7 days after symptoms onset in participating centers.
      These early-onset stroke patients are referred for targeted sequencing using 'cerebrovascular
      disease panel'. By analyzing the sequencing results, we intend to identify monogenic causes
      causing early-onset stroke and develop clinical algorithms that might assist the clinician in
      deciding in which early-onset stroke patients testing for monogenic causes of stroke.
The study was designed as a multicenter multiracial prospective observational study of acute
      ischemic stroke and TIA patients across china. The purpose of this study is to determine the
      monogenic disorders incidence of Chinese early-onset stroke patients. We plan to
      consecutively enroll more than 500 patients with early-onset stroke(in the 18- to 45-year age
      range) admitted in stroke units within 7 days after symptoms onset in participating centers.
      Patients fulfilling all of the inclusion criteria and none of the exclusion criteria will be
      referred for targeted sequencing using 'cerebrovascular disease panel'. When one or multiple
      pathogenic or possible pathogenic exonic mutations are found, a Sanger Sequencing (SS) on
      somatic DNA from peripheral blood leukocyte of the index case and affected relatives will be
      performed for the screening of the same mutations. And the sporadic patient's mutations will
      be checked by SS in the unaffected family members. By analyzing the sequencing results, we
      intend to identify monogenic causes causing early-onset stroke and develop clinical
      algorithms that might assist the clinician in deciding in which early-onset stroke patients
      testing for monogenic causes of stroke.
observational model: Cohort
time perspective: Prospective
measure: Percentage of patients with certain etiologic diagnosis established with targeted sequencing
time frame: day 0
description: Percentage of patients with certain etiologic diagnosis established with targeted sequencing
measure: Obtained read depth according to number of pooled samples
time frame: day 0
description: Obtained read depth according to number of pooled samples
measure: Percentage of patients with variant with unknown significance
time frame: day 0
description: Percentage of patients with variant with unknown significance, needing supplementary analyses to prove its involvement in early-onset stroke
measure: Clinical phenotype for each gene for which a causal mutation is identified by targeted sequencing panel
time frame: day 0
description: Clinical phenotype for each gene for which a causal mutation is identified by targeted sequencing panel
measure: Time of analysis of NGS raw data
time frame: 30 days
description: Time of analysis of NGS raw data
measure: Incidence of certain single-gene disorders in early-onset stroke patients
time frame: day 0
description: Incidence of certain single-gene disorders in early-onset stroke patients
Genomic DNA was extracted from peripheral blood leukocytes,
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: 45 Years
healthy volunteers: No
last name: Wei Li, M.D
role: Principal Investigator
affiliation: Beijing Tian Tan Hospital, Capital Medical University, Beijing, China
facility: 
country: China
responsible party type: Principal Investigator
investigator affiliation: Beijing Tiantan Hospital
investigator full name: Yongjun Wang
investigator title: Executive Vice-President
mesh term: Stroke
mesh term: Ischemic Attack, Transient