Usher syndrome type 3 (USH3) is caused by changes (mutations) in a protein called Clarin 1. One specific mutation, called N48K, makes the Clarin 1 protein unstable. Researchers discovered that a drug called BF844 can help stabilize this abnormal protein. In mice with the N48K mutation, BF844 was able to reduce hearing loss.
Now, a Phase 1 clinical trial has started in Perth, Australia. The goal of this first trial is to make sure the drug is safe for people to take. This is the first important step toward bringing this treatment to patients with the N48K mutation in Clarin 1.
What this means for Usher syndrome: This is an exciting new approach to treating Usher syndrome. A similar strategy has already been successful in treating Cystic Fibrosis, another genetic disease. If this approach works for Clarin 1, it could inspire scientists to try the same method for other Usher proteins that become unstable due to mutations.
