Researchers found that the N48K mutation in Clarin 1, which causes Usher syndrome type 3, makes the protein unstable. A drug called BF844 can stabilize this faulty protein and reduced hearing loss in mice. A Phase 1 clinical trial has now begun in Perth, Australia, to test the drug’s safety in people. This marks an important first step toward a new treatment for Usher syndrome and could lead to similar therapies for other genetic forms of the condition.
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.
