In a groundbreaking medical development, 16-month-old Everett Tynes has become the first patient at Boston Children’s Hospital to receive an FDA-approved gene therapy treatment targeting hearing loss. The innovative therapy, known as Otarmeni, aims to remedy genetic hearing impairments by providing a functional copy of the OTOF gene, which is essential for normal auditory function.
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Everett’s journey began when he was born in 2022 to Leah Hamel and Andrew Tynes in Birmingham, Alabama. Initial newborn hearing tests gave disconcerting results, revealing that their son was unable to hear. “That’s when things started to settle in to be more permanent,” said Hamel, reflecting on the challenges they faced in Everett’s first year. The couple, having no prior family history of hearing loss, found themselves navigating a difficult emotional landscape as they sought solutions for their son.
By the age of nine months, Everett had received hearing aids, though they proved ineffective due to his specific type of hearing loss. Following a year filled with specialist consultations and extensive testing, Everett underwent genetic testing which ultimately disclosed that he had auditory neuropathy spectrum disorder (ANSD). This condition arises from a genetic mutation affecting the OTOF gene, resulting in improper signal transmission from the cochlea to the brain.
It was during this challenging period that Hamel discovered the existence of Otarmeni, a newly approved gene therapy treatment. Having received FDA approval in April 2023, this therapy is designed to deliver a working version of the OTOF gene directly to the inner ear cells, allowing them to produce a vital protein needed for sound signal transmission. Remarkably, Regeneron, the manufacturer of Otarmeni, provides this treatment at no cost for U.S. patients, a notable advantage given that similar therapies can exceed £1 million per dose.
While the treatment itself was free, the Tynes family faced the significant expense of travelling 1,200 miles to Boston for Everett’s therapy sessions. They anticipate spending at least three weeks in the city to monitor their son’s recovery. “We need to stretch the budget as you have to for your son’s hearing,” noted Tynes, emphasising the importance of the investment. Hamel voiced similar sentiments, saying, “I do think he’ll have access to more things if he has access to speech and hearing.”
In early August, Everett underwent the gene therapy procedure, marking a historic moment at Boston Children’s Hospital. Dr. A. Eliot Shearer, a paediatric ENT surgeon who conducted the surgery, described the operation as involving a small incision in the ear to introduce the treatment directly into the cochlea. He emphasised the distinct advantages of gene therapy over conventional devices like cochlear implants, stating that while implants use limited electrodes, Otarmeni facilitates natural hearing by activating the thousands of cells tuned to different frequencies in the inner ear.
Early indications suggest the surgery was successful, with Everett demonstrating increased awareness of his environment post-treatment. Although full results will take time to manifest, Hamel expressed optimism: “We’re feeling really thankful this even exists,” she remarked.
Boston Children’s Hospital played a pivotal role during the clinical trials leading up to Otarmeni’s approval. The trials involved a cohort of 20 participants aged between 10 months and 16 years, all of whom were administered a single dose of the treatment. Dr. Shearer, an investigator for the trial, reported encouraging results, with around 80% of participants experiencing hearing improvements after six months, and 42% achieving normal hearing within a year.
Dr. Shearer noted that the process of recovery often resembles the gradual increase in sound levels, akin to turning up a dimmer switch. “When I see these kids now, and they’re hearing, and they’re not wearing cochlear implants, even that is just amazing,” he shared, highlighting the profound impact of this treatment.
As the medical community looks forward to potential future treatments for other patients, Everett’s case stands as a beacon of hope. The Tynes family, now grateful for the opportunities this gene therapy might offer their son, underscores the importance of advancements in medical technology for improving the lives of those with hearing impairments. The ongoing research and successes in this area may soon pave the way for a broader application of similar therapies, transforming the landscape of auditory health care.