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/NCT05970445</url>
    </required_header>
    <id_info>
      <org_study_id>PS/NSEVA-01</org_study_id>
      <nct_id>NCT05970445</nct_id>
    </id_info>
    <brief_title>Clinical Phenotypic Characteristics of SC26A4</brief_title>
    <official_title>Clinical Phenotypic Characteristics of the Solute Carrier Family 26 Member 4 (SC26A4) Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Chinese PLA General Hospital</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
    </sponsors>
    <source>Chinese PLA General Hospital</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 presence or absence of SC26A4, whether combined with Mondini malformation, and patient&#xD;
        age, are important factors affecting the degree of hearing loss in the Chinese population.&#xD;
      </textblock>
    </brief_summary>
    <detailed_description>
      <textblock>
        To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutation and clinical phenotypic&#xD;
        characteristics of Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)&#xD;
        patients and provide evidence supporting the clinical diagnosis and genetic counseling of&#xD;
        patients with PS/NSEVA. A retrospective cohort study for the Chinese population is needed.&#xD;
      </textblock>
    </detailed_description>
    <overall_status>Active, not recruiting</overall_status>
    <start_date type="Actual">May 15, 2023</start_date>
    <completion_date type="Anticipated">August 31, 2023</completion_date>
    <primary_completion_date type="Actual">August 1, 2023</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>Retrospective</time_perspective>
    </study_design_info>
    <primary_outcome>
      <measure>SLC26A4 sequencing</measure>
      <time_frame>through study completion, an average of 0.5 year</time_frame>
      <description>Extraction from patient clinical information database and secondary use. From each patient included in the study, 3 ml of peripheral blood was collected and the DNA extracted for the diagonosis in the past.</description>
    </primary_outcome>
    <primary_outcome>
      <measure>High-resolution computed tomography of the temporal bone</measure>
      <time_frame>through study completion, an average of 0.5 year</time_frame>
      <description>Extraction from patient clinical information database and secondary use. High-resolution computed tomography of the temporal bone is used to measure the width of the vestibular aqueduct (VA) in the left and right ears to determine whether other inner ear malformations exist.</description>
    </primary_outcome>
    <primary_outcome>
      <measure>Hearing test</measure>
      <time_frame>through study completion, an average of 0.5 year</time_frame>
      <description>Extraction from patient clinical information database and secondary use. The Auditory Steady State Response test is conducted to evaluate the degree of hearing loss.</description>
    </primary_outcome>
    <number_of_groups>1</number_of_groups>
    <enrollment type="Anticipated">300</enrollment>
    <condition>Hearing Loss</condition>
    <condition>Pendred Syndrome</condition>
    <arm_group>
      <arm_group_label>Patients with enlarged vestibular aqueduct</arm_group_label>
      <description>This study will analyze the SLC26A4 mutation, and audiological and imaging characteristics of PS/NSEVA to summarize the clinical manifestations of PS/NSEVA patients. The study also will analyze the effects of SLC26A4 mutation and inner ear imaging on the degree of hearing loss in PS/NSEVA patients to provide predictive measures for the genetic diagnosis and clinical phenotype of PS/NSEVA. Finally, the effects of sex and age on the degree of hearing loss in patients with PS/NSEVA will be analyzed to provide insight on PS/NSEVA pathogenesis.</description>
    </arm_group>
    <biospec_retention>Samples With DNA</biospec_retention>
    <biospec_descr>
      <textblock>
        SLC26A4 sequencing&#xD;
      </textblock>
    </biospec_descr>
    <eligibility>
      <study_pop>
        <textblock>
          Because the influencing factors and pathological mechanisms of PS/NSEVA patients are&#xD;
          intricate, there are many controversies regarding the relationship between the SLC26A4&#xD;
          gene, the degree of hearing loss experienced by PS/NSEVA patients, and the relationship&#xD;
          between inner ear imaging and audiology.&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Non-Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
            1. Patients with Enlarged Vestibular Aqueduct;&#xD;
  &#xD;
            2. Patients with hearing loss;&#xD;
  &#xD;
            3. Patients with results of SLC26A4 sequencing;&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
          Subjects will be excluded from this study if any of the following are present:&#xD;
  &#xD;
            1. Audiometric data is incomplete&#xD;
  &#xD;
            2. Incomplete basic information&#xD;
  &#xD;
            3. Patients who did not undergo HRCT&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>N/A</minimum_age>
      <maximum_age>N/A</maximum_age>
      <healthy_volunteers>No</healthy_volunteers>
    </eligibility>
    <overall_official>
      <last_name>Shiming Yang</last_name>
      <role>Study Chair</role>
      <affiliation>Chinese PLA General Hospital</affiliation>
    </overall_official>
    <location>
      <facility>
        <name>Chinese PLA General Hospital</name>
        <address>
          <city>Beijing</city>
          <state>Beijing</state>
          <zip>1000853</zip>
          <country>China</country>
        </address>
      </facility>
    </location>
    <location_countries>
      <country>China</country>
    </location_countries>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>June 12, 2023</study_first_submitted>
    <study_first_submitted_qc>July 24, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 1, 2023</study_first_posted>
    <last_update_submitted>August 19, 2023</last_update_submitted>
    <last_update_submitted_qc>August 19, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 23, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Principal Investigator</responsible_party_type>
      <investigator_affiliation>Chinese PLA General Hospital</investigator_affiliation>
      <investigator_full_name>Shiming Yang, PhD</investigator_full_name>
      <investigator_title>Departmant of Otolaryngology Head and Neck Surgery</investigator_title>
    </responsible_party>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Hearing Loss</mesh_term>
      <mesh_term>Syndrome</mesh_term>
    </condition_browse>
    <!-- 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/NCT05970445
  org study id: PS/NSEVA-01
  nct id: NCT05970445
  lead sponsor: 
  has dmc: No
  is fda regulated drug: No
  is fda regulated device: No
  The presence or absence of SC26A4, whether combined with Mondini malformation, and patient
        age, are important factors affecting the degree of hearing loss in the Chinese population.
  To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutation and clinical phenotypic
        characteristics of Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)
        patients and provide evidence supporting the clinical diagnosis and genetic counseling of
        patients with PS/NSEVA. A retrospective cohort study for the Chinese population is needed.
  observational model: Cohort
  time perspective: Retrospective
  measure: SLC26A4 sequencing
  time frame: through study completion, an average of 0.5 year
  description: Extraction from patient clinical information database and secondary use. From each patient included in the study, 3 ml of peripheral blood was collected and the DNA extracted for the diagonosis in the past.
  measure: High-resolution computed tomography of the temporal bone
  time frame: through study completion, an average of 0.5 year
  description: Extraction from patient clinical information database and secondary use. High-resolution computed tomography of the temporal bone is used to measure the width of the vestibular aqueduct (VA) in the left and right ears to determine whether other inner ear malformations exist.
  measure: Hearing test
  time frame: through study completion, an average of 0.5 year
  description: Extraction from patient clinical information database and secondary use. The Auditory Steady State Response test is conducted to evaluate the degree of hearing loss.
  arm group label: Patients with enlarged vestibular aqueduct
  description: This study will analyze the SLC26A4 mutation, and audiological and imaging characteristics of PS/NSEVA to summarize the clinical manifestations of PS/NSEVA patients. The study also will analyze the effects of SLC26A4 mutation and inner ear imaging on the degree of hearing loss in PS/NSEVA patients to provide predictive measures for the genetic diagnosis and clinical phenotype of PS/NSEVA. Finally, the effects of sex and age on the degree of hearing loss in patients with PS/NSEVA will be analyzed to provide insight on PS/NSEVA pathogenesis.
  SLC26A4 sequencing
  study pop: 
  sampling method: Non-Probability Sample
  criteria: 
  gender: All
  minimum age: N/A
  maximum age: N/A
  healthy volunteers: No
  last name: Shiming Yang
  role: Study Chair
  affiliation: Chinese PLA General Hospital
  facility: 
  country: China
  responsible party type: Principal Investigator
  investigator affiliation: Chinese PLA General Hospital
  investigator full name: Shiming Yang, PhD
  investigator title: Departmant of Otolaryngology Head and Neck Surgery
  mesh term: Hearing Loss
  mesh term: Syndrome