For the first time, the FDA has approved a gene therapy to treat a specific type of hearing loss. This breakthrough is bringing hope to families affected by a rare genetic condition, deafness caused by the otoferlin (OTOF) gene.
Even though the therapy is for a small subset of people, it represents an exciting medical advancement.
Kristen Angster, M.D., an otolaryngologist (ENT) at Henry Ford Health, explains the latest information on this treatment.
What Is OTOF-Related Hearing Loss?
OTOF-related hearing loss is caused by mutations (changes) in the OTOF gene. This gene creates the otoferlin protein, which helps transmit sound signals from the inner ear to the brain. When the gene doesn’t work properly, it can’t make the protein. Without otoferlin protein, the brain cannot receive sounds from the ear, and a person is born deaf.
Historically, the only effective treatment for this type of hearing loss was cochlear implants. These specialized devices send electrical signals directly to your auditory nerve, which allows you to process sound and understand speech.
“Cochlear implants can be an excellent treatment for many types of deafness, including OTOF-related hearing loss,” says Dr. Angster. “This can still be a great option for patients if the gene therapy isn’t available to them.”
How Does OTOF Gene Therapy Work?
First, you would need to know whether you or your child has OTOF-related hearing loss or hearing loss from another cause. Typically, you need specialized hearing tests and genetic testing to confirm a diagnosis.
After diagnosing the condition, you discuss the treatment with your or your child’s healthcare team. They will look at factors like overall health and availability to help you make a decision.
For those who are candidates, the gene therapy requires a minimally invasive procedure and general anesthesia. “The therapy works by delivering a copy of the OTOF gene directly into the ear with a thin endoscope,” explains Dr. Angster. “Once the gene is in place, the body can begin to make its own otoferlin protein. This restores the connection between the ear and brain.”
The clinical trial results have been positive. “Many children in the study experienced hearing improvement,” says Dr. Angster. “Some achieved normal levels of hearing, and others improved enough to benefit from hearing aids. This is life-changing for the families it helps.”
As of now, OTOF gene therapy is not widely available outside specialized clinical trial sites. When it does become more accessible, it will likely be offered initially at specialized pediatric centers.
Could Gene Therapy Help Other Types of Hearing Loss?
While this specific therapy only helps a small population, it also opens the door to treating other genetic forms of hearing loss. Researchers are exploring similar techniques for different genetic mutations.
“This therapy represents a new frontier in treating genetic hearing loss,” says Dr. Angster. “It gives us hope that we’ll be able to help more people in the future.”
Reviewed by Kristen Angster, M.D., an otolaryngologist (ENT) who sees patients at Henry Ford Hospital in Detroit and Henry Ford Medical Center – Lakeside.
