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

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

NCT06019481•Regeneron Pharmaceuticals

View on ClinicalTrials.gov

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.

Detailed 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.

Eligibility

Age

0 - 7 years

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•Participant is no older than 7 years (inclusive) at the time of the parent/legal guardian signing the informed consent form (ICF)
•Participant has 1 of the following genotypes and meets the associated audiologic criteria based on physiologic and/or behavioral measures of inner ear function:
•Biallelic pathogenic or likely pathogenic OTOF mutations with severe to profound sensorineural hearing loss (SNHL; ≥ 85 dB HL) and confirmed presence of OAEs
•Biallelic pathogenic and truncating GJB2 mutation(s) with moderate or moderately-severe SNHL (≤41 to \<71 dB HL)
•Digenic pathogenic or likely pathogenic mutations in GJB2 and GJB6 genes with mild or worse SNHL (\>26 dB HL)
•Participant has at least 1 ear that has not received a cochlear implant (CI)

Exclusion Criteria

•History of or active participation in an interventional trial related to hearing loss
•History or presence of any other permanent/untreatable hearing loss conditions, including genetic conditions other than those involving biallelic OTOF or GJB2 mutations, or digenic GJB2/GJB6 mutations
•History of treatment with ototoxic drugs

Locations (2)

Phoenix Childrens Hospital

Phoenix, Arizona, United States

Nationwide Children's Hospital

Columbus, Ohio, United States

Key Dates

Start Date

June 30, 2025

Primary Completion Date

June 30, 2030

Completion Date

June 30, 2030

Last Updated

May 15, 2025

Conditions

Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF)Biallelic Mutations in the Gap Junction Beta 2 (GJB2) GeneDigenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes