Hearing loss, autosomal recessive

This trial tests an experimental gene therapy called EA0010 in children aged 1 to 17 with hearing loss caused by mutations in the OTOF gene, who already have cochlear implants. The therapy is injected into one ear and aims to deliver a working copy of the OTOF gene to inner ear c…

This trial tests a gene therapy called SENS-501 for children aged 6 to 31 months who are severely or profoundly deaf due to mutations in the otoferlin gene. The therapy is injected directly into one inner ear to deliver a working copy of the gene. The goal is to restore natural h…

This study follows 30 people who previously received a gene therapy (AAVAnc80-hOTOF) for hearing loss caused by otoferlin gene mutations. Researchers will monitor safety over the long term, checking for late side effects, and measure hearing improvements using brain response test…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests an injection called KP-100LI for people with vocal fold scars that cause voice problems. About 62 adults will receive either the study drug or a placebo to see if it improves voice function over 24 weeks. The goal is to confirm the treatment is safe and effective…

This study follows 44 people with a rare genetic form of Usher syndrome caused by PCDH15 mutations. Over 48 months, researchers measure how their vision changes using eye exams and imaging. The goal is to identify the best ways to track disease progression, which will help design…