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
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF)
- Sponsor
- Regeneron Pharmaceuticals
- Enrollment
- 20
- Locations
- 2
- Primary Endpoint
- Hearing-related outcomes
- Status
- Withdrawn
- Last Updated
- 11 months ago
Overview
Brief 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.
Investigators
Eligibility Criteria
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
Outcomes
Primary Outcomes
Hearing-related outcomes
Time Frame: 4 years
Speech detection and perception thresholds.
Secondary Outcomes
- Auditory skills and speech perception over time(4 years)