<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/NCT03296371</url>
  </required_header>
  <id_info>
    <org_study_id>AEPI15N1</org_study_id>
    <secondary_id>NCI-2017-01665</secondary_id>
    <secondary_id>AEPI15N1</secondary_id>
    <secondary_id>AEPI15N1</secondary_id>
    <nct_id>NCT03296371</nct_id>
  </id_info>
  <brief_title>Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma</brief_title>
  <official_title>Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Children's Oncology Group</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>National Cancer Institute (NCI)</agency>
      <agency_class>NIH</agency_class>
    </collaborator>
  </sponsors>
  <source>Children's Oncology Group</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      This research trial studies genetic mutations in saliva or buccal mucosa samples from&#xD;
      patients with embryonal or alveolar rhabdomyosarcoma. Identifying gene mutations may help&#xD;
      doctors learn about the prognosis of patients with embryonal or alveolar rhabdomyosarcoma.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      PRIMARY OBJECTIVES:&#xD;
&#xD;
      I. To identify novel recurrent de novo germline mutations among rhabdomyosarcoma (RMS)&#xD;
      case-parent trios.&#xD;
&#xD;
      II. To identify the frequency of de novo germline mutations in cancer predisposition genes&#xD;
      among RMS case-parent trios.&#xD;
&#xD;
      SECONDARY OBJECTIVES:&#xD;
&#xD;
      I. To conduct ?deep phenotyping? of children diagnosed with RMS utilizing questionnaire data&#xD;
      and information from medical records.&#xD;
&#xD;
      OUTLINE:&#xD;
&#xD;
      Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic&#xD;
      mutational analysis. Germline deoxyribonucleic acid (DNA) from saliva or buccal mucosa is&#xD;
      evaluated via whole exome sequencing.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">October 23, 2017</start_date>
  <completion_date type="Anticipated">December 31, 2023</completion_date>
  <primary_completion_date type="Actual">December 31, 2022</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Family-Based</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Novel recurrent de novo germline mutation identification</measure>
    <time_frame>Up to 3 years</time_frame>
    <description>Will analyze de novo single-nucleotide variants (SNVs), copy-number variants (CNVs), and insertions/deletions (INDELs) obtained through next-generation exome sequencing of rhabdomyosarcoma (RMS) case-parent trios.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Frequency of de novo germline mutations in cancer predisposition genes</measure>
    <time_frame>Up to 3 years</time_frame>
    <description>Will conduct targeted sequencing using samples collected from the case and his/her parents in order to determine the prevalence of novel de novo mutations in cancer-syndrome genes associated with RMS.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information</measure>
    <time_frame>Up to 3 years</time_frame>
    <description>Analyses will be descriptive in nature.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">900</enrollment>
  <condition>Alveolar Rhabdomyosarcoma</condition>
  <condition>Embryonal Rhabdomyosarcoma</condition>
  <arm_group>
    <arm_group_label>Ancillary-Correlative (biospecimen collection)</arm_group_label>
    <description>Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic mutational analysis. Germline DNA from saliva or buccal mucosa is evaluated via whole exome sequencing.</description>
  </arm_group>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Biospecimen Collection</intervention_name>
    <description>Undergo saliva or buccal mucosa collection</description>
    <arm_group_label>Ancillary-Correlative (biospecimen collection)</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Laboratory Biomarker Analysis</intervention_name>
    <description>Correlative studies</description>
    <arm_group_label>Ancillary-Correlative (biospecimen collection)</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Questionnaire Administration</intervention_name>
    <description>Ancillary studies</description>
    <arm_group_label>Ancillary-Correlative (biospecimen collection)</arm_group_label>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Saliva, buccal mucosa&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with embryonal or alveolar rhabdomyosarcoma enrolled on ACCRN07 and/or APEC14B1&#xD;
        and registered with Children's Oncology Group (COG)&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  The patient must be enrolled on ACCRN07 and/or APEC14B1 and registered with COG by a&#xD;
             North American member institution&#xD;
&#xD;
          -  The patient must have a diagnosis of embryonal rhabdomyosarcoma or alveolar&#xD;
             rhabdomyosarcoma&#xD;
&#xD;
          -  The patient must be diagnosed with rhabdomyosarcoma between January 1, 2012 and&#xD;
             November 30, 2019&#xD;
&#xD;
          -  Concomitant treatment on a therapeutic trial is not required&#xD;
&#xD;
          -  The patient must have at least one biological parent alive and willing to participate&#xD;
&#xD;
          -  All questionnaire respondents must understand English or Spanish&#xD;
&#xD;
          -  All patients and/or their parents or legal guardians must sign a written informed&#xD;
             consent&#xD;
&#xD;
          -  All institutional, Food and Drug Administration (FDA), and National Cancer Institute&#xD;
             (NCI) requirements for human studies must be met&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>50 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Philip Lupo</last_name>
    <role>Principal Investigator</role>
    <affiliation>Children's Oncology Group</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Childrens Oncology Group</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19104</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>February 2023</verification_date>
  <study_first_submitted>September 19, 2017</study_first_submitted>
  <study_first_submitted_qc>September 27, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">September 28, 2017</study_first_posted>
  <last_update_submitted>February 10, 2023</last_update_submitted>
  <last_update_submitted_qc>February 10, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">February 13, 2023</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>Rhabdomyosarcoma</mesh_term>
    <mesh_term>Rhabdomyosarcoma, Alveolar</mesh_term>
    <mesh_term>Rhabdomyosarcoma, Embryonal</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/NCT03296371
org study id: AEPI15N1
secondary id: NCI-2017-01665
secondary id: AEPI15N1
secondary id: AEPI15N1
nct id: NCT03296371
lead sponsor: 
collaborator: 
has dmc: No
This research trial studies genetic mutations in saliva or buccal mucosa samples from
      patients with embryonal or alveolar rhabdomyosarcoma. Identifying gene mutations may help
      doctors learn about the prognosis of patients with embryonal or alveolar rhabdomyosarcoma.
PRIMARY OBJECTIVES:

      I. To identify novel recurrent de novo germline mutations among rhabdomyosarcoma (RMS)
      case-parent trios.

      II. To identify the frequency of de novo germline mutations in cancer predisposition genes
      among RMS case-parent trios.

      SECONDARY OBJECTIVES:

      I. To conduct ?deep phenotyping? of children diagnosed with RMS utilizing questionnaire data
      and information from medical records.

      OUTLINE:

      Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic
      mutational analysis. Germline deoxyribonucleic acid (DNA) from saliva or buccal mucosa is
      evaluated via whole exome sequencing.
observational model: Family-Based
time perspective: Prospective
measure: Novel recurrent de novo germline mutation identification
time frame: Up to 3 years
description: Will analyze de novo single-nucleotide variants (SNVs), copy-number variants (CNVs), and insertions/deletions (INDELs) obtained through next-generation exome sequencing of rhabdomyosarcoma (RMS) case-parent trios.
measure: Frequency of de novo germline mutations in cancer predisposition genes
time frame: Up to 3 years
description: Will conduct targeted sequencing using samples collected from the case and his/her parents in order to determine the prevalence of novel de novo mutations in cancer-syndrome genes associated with RMS.
measure: Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information
time frame: Up to 3 years
description: Analyses will be descriptive in nature.
arm group label: Ancillary-Correlative (biospecimen collection)
description: Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic mutational analysis. Germline DNA from saliva or buccal mucosa is evaluated via whole exome sequencing.
intervention type: Procedure
intervention name: Biospecimen Collection
description: Undergo saliva or buccal mucosa collection
arm group label: Ancillary-Correlative (biospecimen collection)
intervention type: Other
intervention name: Laboratory Biomarker Analysis
description: Correlative studies
arm group label: Ancillary-Correlative (biospecimen collection)
intervention type: Other
intervention name: Questionnaire Administration
description: Ancillary studies
arm group label: Ancillary-Correlative (biospecimen collection)
Saliva, buccal mucosa
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: 50 Years
healthy volunteers: No
last name: Philip Lupo
role: Principal Investigator
affiliation: Children's Oncology Group
facility: 
country: United States
responsible party type: Sponsor
mesh term: Rhabdomyosarcoma
mesh term: Rhabdomyosarcoma, Alveolar
mesh term: Rhabdomyosarcoma, Embryonal