A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations

Last updated: May 12, 2025
Sponsor: Regeneron Pharmaceuticals
Overall Status: Trial Not Available

Phase

N/A

Condition

Hearing Impairment

Hearing Loss

Deafness

Treatment

N/A

Clinical Study ID

NCT06019481
DB-100-001
  • Ages < 7
  • All Genders

Study Summary

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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Participant is no older than 7 years (inclusive) at the time of the parent/legalguardian signing the informed consent form (ICF)

  • Participant has 1 of the following genotypes and meets the associated audiologiccriteria based on physiologic and/or behavioral measures of inner ear function:

  • Biallelic pathogenic or likely pathogenic OTOF mutations with severe to profoundsensorineural hearing loss (SNHL; ≥ 85 dB HL) and confirmed presence of OAEs

  • Biallelic pathogenic and truncating GJB2 mutation(s) with moderate ormoderately-severe SNHL (≤41 to <71 dB HL)

  • Digenic pathogenic or likely pathogenic mutations in GJB2 and GJB6 genes with mildor worse SNHL (>26 dB HL)

  • Participant has at least 1 ear that has not received a cochlear implant (CI)

Exclusion

Exclusion Criteria:

  • History of or active participation in an interventional trial related to hearingloss

  • History or presence of any other permanent/untreatable hearing loss conditions,including genetic conditions other than those involving biallelic OTOF or GJB2mutations, or digenic GJB2/GJB6 mutations

  • History of treatment with ototoxic drugs

Study Design

Study Start date:
June 30, 2025
Estimated Completion Date:
June 30, 2030

Study Description

Former Sponsor Decibel Therapeutics

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.

Connect with a study center

  • Phoenix Children's Hospital

    Phoenix, Arizona 85016
    United States

    Site Not Available

  • Phoenix Childrens Hospital

    Phoenix, Arizona 85016
    United States

    Site Not Available

  • Nationwide Children's Hospital

    Columbus, Ohio 43205
    United States

    Site Not Available

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