New Treatment Offers Hope for a Rare Form of Hearing Loss

For some children and adults born with a rare form of genetic hearing loss, a new gene therapy may make it possible to hear. The one-time treatment, called Otarmeni, repairs changes in the OTOF gene, which causes a condition known as otoferlin-related hearing loss.

The U.S. Food and Drug Administration recently approved Otarmeni, making it the first gene therapy approved to treat genetic hearing loss.

“This is an exciting development in the hearing health world,” says Cameron Wick, MD, an ear, nose and throat specialist at University Hospitals. “It’s an example of decades’ worth of scientific research work translated into a treatment for patients.”

What Is Otoferlin-Related Hearing Loss?

Otoferlin-related hearing loss is present at birth and is caused by changes in the OTOF gene. This gene helps the body make otoferlin, a protein that allows sound signals to travel from the inner ear to the brain.

Without enough otoferlin, the inner ear can detect sound, but it cannot send that information to the hearing nerve. The result is severe hearing loss.

How Does the New Gene Therapy Work?

Otarmeni is given as a one-time dose during outpatient ear surgery. Similar to cochlear implant surgery, the surgeon delivers the treatment directly into the inner ear.

The therapy provides hair cells in the inner ear with a healthy copy of the OTOF gene. The cells can then make otoferlin and begin sending sound signals to the hearing nerve. Hearing may continue to improve over several months.

What Have Studies Found?

The FDA approved the drug based on an ongoing study of children ranging in age from 10 months to 16 years. Among the 20 children who could be evaluated for effectiveness, 80% had improved hearing. No improvement would not be expected without treatment.

“When the therapy works, it seems to work well,” says Dr. Wick. Researchers are still working to understand why some patients respond and others do not.

The FDA granted Otarmeni accelerated approval. Continued approval may depend on future findings about how long hearing improvements last, and how the treatment affects speech development and quality of life.

Who May Be Eligible for Otarmeni?

Otarmeni is approved for children and adults with severe or profound hearing loss caused by changes in both copies of the OTOF gene. Patients also need working outer hair cells and cannot have a cochlear implant in the ear being treated.

Genetic testing is needed to confirm whether hearing loss is related to the OTOF gene. An ear, nose and throat specialist and a genetics team can help determine whether testing or treatment may be appropriate.

The treatment may not be recommended when the structure of the ear makes it unsafe to reach the inner ear. Possible side effects include a middle ear infection, nausea, dizziness, pain related to the procedure and other surgical complications.

A Major Step, but Not a Treatment for All Hearing Loss

Otarmeni treats one rare genetic form of hearing loss. It does not treat:

• Age-related hearing loss.
• Noise-related hearing loss.
• Hearing loss caused by changes in other genes.

“It’s not a cure-all for hearing loss,” says Dr. Wick. “But it provides proof of concept that gene therapy can work in the inner ear.”

The results also suggest that the nerve pathways needed to carry sound to the brain may remain intact after years without stimulation. In the study that supported FDA approval, some participants were teenagers who had been deaf since birth.

Why Genetic Testing Matters

More than 200 known genetic changes can cause hearing loss. Genetic testing can sometimes identify the specific cause and may help patients learn whether they qualify for a current treatment or clinical trial.

“More widespread genetic testing may allow us to target more patients as new drugs become available,” Dr. Wick says.

For most people whose inner ear damage prevents them from hearing well with hearing aids, cochlear implants remain an important treatment option.

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The ear, nose and throat specialists at University Hospitals provide comprehensive care for children and adults with hearing loss. Our team has advanced expertise in genetic hearing loss, age-related hearing loss and cochlear implants.