Autosomal recessive nonsyndromic hearing loss 1A
MONDO:0009076An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.
Also known as: autosomal recessive nonsyndromic hearing loss 1A, deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant, deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant, DFNB1, DFNB1A, GJB2-related deafness, autosomal recessive deafness 1A, autosomal recessive nonsyndromic deafness 1A
2 clinical trials for this condition and its sub-types, 2 tagged with Autosomal recessive nonsyndromic hearing loss 1A itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
One-time gene therapy aims to restore hearing in kids with genetic deafness
Disease control Recruiting nowThis early-stage trial tests a new gene therapy called SKY-GJB2 for children aged 9 months to 7 years with hearing loss caused by changes in the GJB2 gene. The therapy is given as a single injection into the inner ear using a special delivery device. The study will enroll 10 chil…
Phase 1/2 • Sponsor: Skylark Bio Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
-
Scientists track hearing loss in kids to unlock future treatments
Knowledge-focused Recruiting nowThis study follows 180 children up to age 16 who have hearing loss caused by mutations in the GJB2 or OTOF genes. Researchers will regularly measure their hearing using standard tests and questionnaires to see how it changes over time. The goal is to better understand the natural…
Sponsor: Sensorion • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC