Status:
WITHDRAWN
A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations
Lead Sponsor:
Regeneron Pharmaceuticals
Conditions:
Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF)
Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene
Eligibility:
All Genders
Up to 7 years
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...
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...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
June 30 2025
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
June 30 2030
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT06019481
Start Date
June 30 2025
End Date
June 30 2030
Last Update
May 15 2025
Active Locations (2)
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1
Phoenix Childrens Hospital
Phoenix, Arizona, United States, 85016
2
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205