NCT06019481

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

• Status: Withdrawn
• Phase: —
• Study type: Observational
• Enrollment: 0 (actual)
• Sponsor: Regeneron Pharmaceuticals · Industry
• Sex: All
• Age: 7 Years
• Healthy volunteers: Not accepted

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.

Conditions

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

Timeline

• Start date: 2025-06-30
• Primary completion: 2030-06-30
• Completion: 2030-06-30
• First posted: 2023-08-31
• Last updated: 2025-05-15

Locations

2 sites across 1 country: United States