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Otoferlin, Otarmeni and a new era for addressing hereditary deafness
Hearing depends on a remarkably precise biological system inside the inner ear, where tiny mechanosensory hair cells convert sound vibrations into electrical signals that can be transmitted to the brain. A critical component of this process is a protein called Otoferlin, which is encoded by the OTOF gene. Otoferlin acts like a molecular switch, enabling hair cells to release neurotransmitters and pass the sound signal to the auditory nerve. When the OTOF gene is mutated, the hair cells can still be stimulated by incoming sounds, but they cannot properly transmit them, leading to sensorineural hearing loss. Individuals with this mutation are typically born with severe to profound deafness.
Otarmeni(TM) has been developed by Regeneron Pharmaceuticals as the first FDA-approved gene therapy to treat (cure) OTOF-related deafness. It works by delivering a normal (non-mutated) version of the OTOF gene into the inner ear using a viral vector, enabling hair cells to produce functional Otoferlin again.
Early clinical results have shown that young children can regain meaningful hearing abilities after this one-shot therapy. Regeneron has also announced that it will make Otarmeni free to patients in the U.S.A.