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.
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.
Study Type
OBSERVATIONAL
Phoenix Childrens Hospital
Phoenix, Arizona, United States
Nationwide Children's Hospital
Columbus, Ohio, United States
Hearing-related outcomes
Auditory brainstem response (ABR) intensity
Time frame: 4 years
Hearing-related outcomes
Otoacoustic emission (OAEs) amplitudes
Time frame: 4 years
Hearing-related outcomes
Pure tone intensity thresholds
Time frame: 4 years
Hearing-related outcomes
Speech detection and perception thresholds.
Time frame: 4 years
Auditory skills and speech perception over time
Open- and Closed- set Task phoneme accuracy and word comprehension
Time frame: 4 years
Auditory skills and speech perception over time
Early Speech Perception (ESP)
Time frame: 4 years
Auditory skills and speech perception over time
Pediatric Speech Intelligibility (PSI) test
Time frame: 4 years
Auditory skills and speech perception over time
Auditory Skills Checklist (ASC)
Time frame: 4 years
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