After Decades of Research, Gene Therapy Finally Restores Hearing

[00:00:05]Some people would say this is a medical miracle, and the short answer is yes.

[00:00:08]Surgeons at Cincinnati Children's performed one of the world's first bilateral gene therapy injections on a young boy who was born deaf.

[00:00:17]I think this will only continue to expand in all forms of medicine, but certainly for children with genetic forms of hearing loss, this could end up being a mainstay of treatment.

[00:00:30]About 50% of the kids who have a hearing loss will have a hearing loss because of a genetic mutation.

[00:00:37]And so here at Cincinnati Children's, we developed really the first gene array for detecting genetic hearing loss and that included the Otoferlin gene, which is what this child has.

[00:00:48]All of the kids who have a hearing loss get a gene panel.

[00:00:52]And that gene panel will check the genes that are most commonly linked with hearing loss.

[00:00:58]One of the genes on that panel is called Otoferlin, and that's the gene that he tested positive for.

[00:01:05]That gene causes a different type of hearing loss called auditory neuropathy.

[00:01:11]Auditory neuropathy is a hearing problem in which the ear detects sound normally, but has a problem sending it to the brain.

[00:01:19]Traditional treatments include hearing aids or cochlear implants.

[00:01:26]In early 2025, Cincinnati Children's enrolled in a clinical trial involving cutting-edge gene therapy for children with the Otoferlin gene.

[00:01:36]During the surgery, doctors inject the gene therapy drug directly into both cochlea.

[00:01:42]So this is a culmination of decades of work done by many, many researchers, to then try to restore the normal cellular processes that go on to allow children to hear.

[00:01:58]After the surgery, audiologists at Cincinnati Children's watched the young boy respond immediately to sounds.

[00:02:05]Amazing, incredible.

[00:02:07]It's like a pivotal moment in my career and for everybody here to see somebody go from profoundly deaf to have this hearing without the need of wearing devices is really amazing.

[00:02:22]This will be completely life changing.

[00:02:24]We won't know the final results, of course, for a number of years, but we anticipate that he should be able to hear to the normal to near-normal levels then learn to listen and then learn to talk.

[00:02:38]What's really fascinating about this case is his little sister has the exact same condition.

[00:02:44]The patient's younger sister also has the Otoferlin gene and underwent the same procedure.

[00:02:51]Each gene is like a different book.

[00:02:54]It's a different story.

[00:02:55]So, as we go on to the second gene, third gene, fourth gene, we'll figure out which of these genes is best treated with gene therapy.

[00:03:04]I think this is going to be the dawn of a new age of molecular intracochlear therapy in which we can potentially restore hearing in many of these children.

[00:03:21]Oh, yeah, you can hear better than I can.