Published On: Fri, Oct 20th, 2023

Revolutionizing Deaf Child Hearing Restoration: Breakthrough Gene Therapy Trials

Revolutionizing Deaf Child Hearing Restoration: Breakthrough Gene Therapy Trials
Revolutionizing Deaf Child Hearing Restoration: Breakthrough Gene Therapy Trials

While the Novartis trial was happening, researchers were also exploring ways to restore hearing in cases of genetic hearing loss. In 2019, Dr. Lustig and his collaborators demonstrated the potential of OTOF gene therapy to restore hearing in mice lacking the otoferlin protein. A separate research group in Germany published similar findings in 2021, confirming the viability of this approach.

“For gene therapy to be effective, the target cells must be alive,” explains Dr. Jeffrey Holt, a professor of otolaryngology and neurology at Harvard Medical School, specializing in deafness gene therapy. He isn’t involved in these trials but notes that many genetic mutations causing deafness lead to the death of inner ear hair cells. However, OTOF mutations preserve these cells. “This aspect is promising for the success of this strategy,” he adds.

Although the trials accept participants up to age 18, Dr. Holt suggests that earlier intervention may be more beneficial. “The auditory system undergoes maturation, and introducing therapy after this development may pose challenges in processing new auditory input,” he says. This is analogous to how adults find it more challenging to learn a new language compared to children, as children’s brains are highly adaptable.

Doctors commonly recommend cochlear implant surgery before the age of 3, allowing children to learn sounds during crucial language development stages. However, even older individuals can still benefit from these devices.

Although the current trials focus on a rare type of deafness, researchers believe that gene therapy could potentially address other genetic mutations causing deafness in the future.

However, not everyone believes that deafness necessitates medical interventions. Jaipreet Virdi, a historian specializing in medicine, technology, and disability at the University of Delaware, who is deaf, argues that gene therapy continues the debate that began in the 1990s regarding cochlear implants. Some members of the Deaf community perceive these interventions as a threat, as they may deny individuals autonomy and access to Deaf culture. “Erasure before choice is presented—to an individual, not their parents—is problematic,” Virdi contends.

Wyatte Hall, a psychologist and public health researcher at the University of Rochester, who studies language acquisition’s role in the health of deaf individuals and is deaf himself, emphasizes that Deaf people contribute to society’s diversity and richness. “Throughout history, people have attempted to ‘fix’ us, yet we endure, suggesting an inherent evolutionary value in our differences,” Hall says.

Hall does not oppose cochlear implants or gene therapy but encourages a balanced approach. He believes that parents should not limit access to sign language in favor of a solely medical approach. When working with families of Deaf children, he advocates for a “both” approach—utilizing technology and sign language. “If gene therapy or technology proves ineffective,” Hall notes, “sign language remains a developmental safeguard.”

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