Regeneron's Gene Therapy Breakthrough: Restoring Hearing in Children with Rare Genetic Condition

Regeneron Pharmaceuticals has made significant strides in treating a rare form of congenital hearing loss, with its gene therapy DB-OTO showing promising results in a recent clinical trial. The treatment, which targets otoferlin-related hearing loss, has demonstrated the ability to restore hearing in children born profoundly deaf.

Clinical Trial Results Show Significant Improvement

In a Phase I/II trial called CHORD, 10 out of 11 children with otoferlin-related hearing loss experienced notable hearing improvements after receiving DB-OTO. The study included participants ranging from 10 months to 16 years of age, with some children now able to hear sounds at near-normal levels.

One particularly striking case involved a 10-month-old patient who, after treatment, could correctly identify spoken words like "mommy," "cookies," and "airplane" without visual cues. This child, followed for over a year, has shown continued progress in speech and development.

Dr. Jonathon Whitton, Regeneron's vice president and auditory global program head, emphasized the rapid onset of benefits: "You can see the efficacy very early on. We are actively talking to FDA and other agencies around the world to understand what the clinical data set [is] but also everything else that you need to put together for your package to eventually get a drug approved."

The Science Behind DB-OTO

DB-OTO is an AAV-based gene therapy that delivers a functional copy of the OTOF gene directly into the cochlea. This approach aims to restore the production of otoferlin, a crucial protein for sound signal transmission from the inner ear to the brain.

The therapy's delivery method mimics the surgical approach used for cochlear implants, allowing for treatment of very young patients. This is particularly important as early intervention is critical for maximizing outcomes in congenital deafness cases.

Dr. Christos Kyratsous, Regeneron's senior vice president and co-head of genetic medicines, highlighted the treatment's potential: "We truly believe in the power of these technologies—we believe in what they can do for patients. So, we are trying to adopt the long-term view, as we do for most of the technologies we are working on."

Competitive Landscape and Future Prospects

Regeneron's success with DB-OTO places it at the forefront of a growing field of gene therapies targeting genetic hearing loss. Other companies, including Eli Lilly (through its acquisition of Akouos), Sensorion, and Refreshgene Therapeutics, are also developing similar treatments.

While the market for otoferlin-related hearing loss is relatively small—with an estimated 20 to 45 new patients in the U.S. each year—the success of DB-OTO could pave the way for treating other forms of genetic hearing loss. Regeneron is already exploring treatments for GJB2-related hearing loss, which affects about 1,400 children in the U.S. annually.

As the field of genetic medicine for hearing disorders expands, researchers and companies are eyeing other potential targets, such as TMC1 and stereocilin mutations. The success of these early gene therapies could usher in a new era of treatment options for various forms of hearing loss, including age-related and noise-induced conditions.