Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes

This international observational study is tracking the natural history — how the condition develops and changes over time — of non-syndromic hearing loss in children caused by mutations in one of two genes: GJB2 (connexin 26) or OTOF (otoferlin), both of which are among the most common genetic causes of childhood deafness. Researchers want to better understand how the hearing loss evolves over time and how audiological characteristics differ between children with congenital (from birth) versus progressive forms of these conditions. Children up to 16 years old (or up to 10 years for a second cohort) with a confirmed genetic cause of their bilateral hearing loss from GJB2 or OTOF mutations are eligible, with or without cochlear implants — those with other types of deafness or mutations in other genes are not. Participation involves regular audiological assessments and genetic record reviews at follow-up visits, with no experimental treatments involved. This summary was prepared with AI assistance to help patients understand the study in plain language.