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/NCT06019481</url>
    </required_header>
    <id_info>
      <org_study_id>DB-100-001</org_study_id>
      <nct_id>NCT06019481</nct_id>
    </id_info>
    <brief_title>A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations</brief_title>
    <acronym>ENSEMBLE</acronym>
    <official_title>A Retrospective and Prospective Natural History Study to Examine the Characteristics of Gene-Related Hearing Loss in Pediatric Participants With Biallelic Otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, Or Digenic GJB2/Gap Junction Beta 6 (GJB6) Mutations</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Decibel Therapeutics</agency>
        <agency_class>Industry</agency_class>
      </lead_sponsor>
    </sponsors>
    <source>Decibel Therapeutics</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>
        This is an observational study to examine the characteristics of gene-related hearing loss in&#xD;
        pediatric participants with biallelic otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2)&#xD;
        Mutations, or Digenic GJB2/Gap Junction Beta 6 (GJB6) Mutations. This study will follow the&#xD;
        participant for 4 years with annual visits each year.&#xD;
      </textblock>
    </brief_summary>
    <detailed_description>
      <textblock>
        This is a longitudinal, retrospective and prospective, low interventional study designed to&#xD;
        collect data on the natural history of pediatric participants with OTOF, GJB2, or GJB2/GJB6&#xD;
        gene mutations to assess hearing-related outcomes, auditory skills, and speech perception. No&#xD;
        investigational product will be administered. At study visits, participants will undergo&#xD;
        physiological and behavioral assessments of hearing and vestibular function. Additionally,&#xD;
        parents/legal guardians or participants will complete questionnaires that will include the&#xD;
        capture of epidemiologic, quality-of-life, auditory and language development, and health&#xD;
        resource utilization information.&#xD;
      </textblock>
    </detailed_description>
    <overall_status>Not yet recruiting</overall_status>
    <start_date type="Anticipated">November 2023</start_date>
    <completion_date type="Anticipated">December 2030</completion_date>
    <primary_completion_date type="Anticipated">November 2026</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>Hearing-related outcomes</measure>
      <time_frame>4 years</time_frame>
      <description>Auditory brainstem response (ABR) intensity</description>
    </primary_outcome>
    <primary_outcome>
      <measure>Hearing-related outcomes</measure>
      <time_frame>4 years</time_frame>
      <description>Otoacoustic emission (OAEs) amplitudes</description>
    </primary_outcome>
    <primary_outcome>
      <measure>Hearing-related outcomes</measure>
      <time_frame>4 years</time_frame>
      <description>Pure tone intensity thresholds</description>
    </primary_outcome>
    <primary_outcome>
      <measure>Hearing-related outcomes</measure>
      <time_frame>4 years</time_frame>
      <description>Speech detection and perception thresholds.</description>
    </primary_outcome>
    <secondary_outcome>
      <measure>Auditory skills and speech perception over time</measure>
      <time_frame>4 years</time_frame>
      <description>Open- and Closed- set Task phoneme accuracy and word comprehension</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>Auditory skills and speech perception over time</measure>
      <time_frame>4 years</time_frame>
      <description>Early Speech Perception (ESP)</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>Auditory skills and speech perception over time</measure>
      <time_frame>4 years</time_frame>
      <description>Pediatric Speech Intelligibility (PSI) test</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>Auditory skills and speech perception over time</measure>
      <time_frame>4 years</time_frame>
      <description>Auditory Skills Checklist (ASC)</description>
    </secondary_outcome>
    <other_outcome>
      <measure>Quality of life over time</measure>
      <time_frame>4 years</time_frame>
      <description>Quality of Life-Cochlear Implant (QoL-CI) score</description>
    </other_outcome>
    <other_outcome>
      <measure>Quality of life over time</measure>
      <time_frame>4 years</time_frame>
      <description>Pediatric Quality of Life (PedsQL) Generic Core Scales dimension and total score</description>
    </other_outcome>
    <other_outcome>
      <measure>Quality of life over time</measure>
      <time_frame>4 years</time_frame>
      <description>Hearing Environments and Reflection on Quality of Life (HEAR-QL-26) subscale and overall score</description>
    </other_outcome>
    <enrollment type="Anticipated">20</enrollment>
    <condition>Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF)</condition>
    <condition>Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene</condition>
    <condition>Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes</condition>
    <eligibility>
      <study_pop>
        <textblock>
          Pediatric participants no older than 7 years, inclusive, who have genetic hearing loss due&#xD;
          to OTOF, GJB2, or GJB2/GJB6 mutations.&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Non-Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
            -  Participant is no older than 7 years (inclusive) at the time of the parent/legal&#xD;
               guardian signing the informed consent form (ICF)&#xD;
  &#xD;
            -  Participant has 1 of the following genotypes and meets the associated audiologic&#xD;
               criteria based on physiologic and/or behavioral measures of inner ear function:&#xD;
  &#xD;
                 -  Biallelic pathogenic or likely pathogenic OTOF mutations with severe to profound&#xD;
                    sensorineural hearing loss (SNHL; ≥ 85 dB HL) and confirmed presence of OAEs&#xD;
  &#xD;
                 -  Biallelic pathogenic and truncating GJB2 mutation(s) with moderate or&#xD;
                    moderately-severe SNHL (≤41 to &lt;71 dB HL)&#xD;
  &#xD;
                 -  Digenic pathogenic or likely pathogenic mutations in GJB2 and GJB6 genes with&#xD;
                    mild or worse SNHL (&gt;26 dB HL)&#xD;
  &#xD;
            -  Participant has at least 1 ear that has not received a cochlear implant (CI)&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            -  History of or active participation in an interventional trial related to hearing loss&#xD;
  &#xD;
            -  History or presence of any other permanent/untreatable hearing loss conditions,&#xD;
               including genetic conditions other than those involving biallelic OTOF or GJB2&#xD;
               mutations, or digenic GJB2/GJB6 mutations&#xD;
  &#xD;
            -  History of treatment with ototoxic drugs&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>N/A</minimum_age>
      <maximum_age>7 Years</maximum_age>
      <healthy_volunteers>No</healthy_volunteers>
    </eligibility>
    <overall_contact>
      <last_name>Decibel Therapeutics, Inc.</last_name>
      <phone>+1-617-370-8701</phone>
      <email>clinicaltrials@decibeltx.com</email>
    </overall_contact>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>August 21, 2023</study_first_submitted>
    <study_first_submitted_qc>August 25, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 31, 2023</study_first_posted>
    <last_update_submitted>August 25, 2023</last_update_submitted>
    <last_update_submitted_qc>August 25, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 31, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Sponsor</responsible_party_type>
    </responsible_party>
    <keyword>Congenital Hearing Loss</keyword>
    <keyword>Sensorineural Hearing Loss</keyword>
    <keyword>Auditory Neuropathy</keyword>
    <keyword>Pediatric</keyword>
    <keyword>Cochlear Implant</keyword>
    <keyword>Otoferlin</keyword>
    <keyword>GJB2</keyword>
    <keyword>GJB6</keyword>
    <keyword>OTOF</keyword>
    <keyword>Deaf</keyword>
    <keyword>Hard of hearing</keyword>
    <keyword>Hearing impaired</keyword>
    <keyword>Hearing disorder</keyword>
    <keyword>Fully implantable hearing aid</keyword>
    <keyword>Child</keyword>
    <keyword>Infant</keyword>
    <keyword>ENSEMBLE</keyword>
    <keyword>Gap Junction Beta 6 Genes</keyword>
    <keyword>Gap Junction Beta 2 Genes</keyword>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Hearing Loss</mesh_term>
      <mesh_term>Deafness</mesh_term>
    </condition_browse>
    <patient_data>
      <sharing_ipd>Undecided</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/NCT06019481
  org study id: DB-100-001
  nct id: NCT06019481
  lead sponsor: 
  has dmc: No
  is fda regulated drug: No
  is fda regulated device: No
  This is an observational study to examine the characteristics of gene-related hearing loss in
        pediatric participants with biallelic otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2)
        Mutations, or Digenic GJB2/Gap Junction Beta 6 (GJB6) Mutations. This study will follow the
        participant for 4 years with annual visits each year.
  This is a longitudinal, retrospective and prospective, low interventional study designed to
        collect data on the natural history of pediatric participants with OTOF, GJB2, or GJB2/GJB6
        gene mutations to assess hearing-related outcomes, auditory skills, and speech perception. No
        investigational product will be administered. At study visits, participants will undergo
        physiological and behavioral assessments of hearing and vestibular function. Additionally,
        parents/legal guardians or participants will complete questionnaires that will include the
        capture of epidemiologic, quality-of-life, auditory and language development, and health
        resource utilization information.
  observational model: Cohort
  time perspective: Prospective
  measure: Hearing-related outcomes
  time frame: 4 years
  description: Auditory brainstem response (ABR) intensity
  measure: Hearing-related outcomes
  time frame: 4 years
  description: Otoacoustic emission (OAEs) amplitudes
  measure: Hearing-related outcomes
  time frame: 4 years
  description: Pure tone intensity thresholds
  measure: Hearing-related outcomes
  time frame: 4 years
  description: Speech detection and perception thresholds.
  measure: Auditory skills and speech perception over time
  time frame: 4 years
  description: Open- and Closed- set Task phoneme accuracy and word comprehension
  measure: Auditory skills and speech perception over time
  time frame: 4 years
  description: Early Speech Perception (ESP)
  measure: Auditory skills and speech perception over time
  time frame: 4 years
  description: Pediatric Speech Intelligibility (PSI) test
  measure: Auditory skills and speech perception over time
  time frame: 4 years
  description: Auditory Skills Checklist (ASC)
  measure: Quality of life over time
  time frame: 4 years
  description: Quality of Life-Cochlear Implant (QoL-CI) score
  measure: Quality of life over time
  time frame: 4 years
  description: Pediatric Quality of Life (PedsQL) Generic Core Scales dimension and total score
  measure: Quality of life over time
  time frame: 4 years
  description: Hearing Environments and Reflection on Quality of Life (HEAR-QL-26) subscale and overall score
  study pop: 
  sampling method: Non-Probability Sample
  criteria: 
  gender: All
  minimum age: N/A
  maximum age: 7 Years
  healthy volunteers: No
  last name: Decibel Therapeutics, Inc.
  phone: +1-617-370-8701
  email: clinicaltrials@decibeltx.com
  responsible party type: Sponsor
  mesh term: Hearing Loss
  mesh term: Deafness
  sharing ipd: Undecided