A novel gene therapy approach has given five children who were born deaf the ability to hear. The method, which overcomes a roadblock presented by large genes, may be useful in other treatments, according to researchers.
The work, conducted in Fudan, China, by a team co-led by Zheng-Yi Chen at the Massachusetts Eye and Ear Infirmary and Harvard Medical School and by collaborators at Fudan University’s Eye & ENT Hospital, treated six children aged 1 to 7 who were suffering from an inherited mutation of the OTOF gene, which manufactures a protein important in transmitting signals from the ear to the brain.
Five of the six children showed improvement in hearing over the 26-week trial, with four outcomes described by researchers as “robust.” With hearing a critical factor in language acquisition, researchers also measured speech perception — the ability to recognize sound as speech — and all five of those who responded to treatment showed improvement there.
A team co-led by Zheng-Yi Chen at the Massachusetts Eye and Ear Infirmary and Harvard Medical School and by collaborators at Fudan University’s Eye & ENT Hospital, treated six children aged 1 to 7 who were suffering from an inherited mutation of the OTOF gene, which manufactures a protein important in transmitting signals from the ear to the brain. Five of the six children showed improvement in hearing over the 26-week trial, with four outcomes described by researchers as “robust.” With hearing a critical factor in language acquisition, researchers also measured speech perception — the ability to recognize sound as speech — and all five of those who responded to treatment showed improvement there. The three older children, with cochlear implants turned off, could understand and respond to speech by 26 weeks, with two able to recognize speech in a noisy room and have a telephone conversation." At Children’s Hospital of Philadelphia, an 11-year-old boy who was born with hereditary deafness prepares for a gene therapy procedure in Philadelphia in October 2023. On Tuesday, Jan. 23, 2024, the hospital announced his hearing has improved enough that he now has only mild to moderate hearing loss in the ear that was treated, and is hearing sound for the first time in his life.
There was also the use of this treatment at Children's Hospital of Philadelphia.
In a groundbreaking development, an 11-year-old boy named Aissam Dam, who was born deaf due to a rare genetic abnormality, was able to hear for the first time following gene therapy treatment at the Children's Hospital of Philadelphia (CHOP)
The therapy is successful because the mutated gene that results in the impairment is replaced with a corrected copy. Once this is done, the sensory cells in the inner ear can now transmit sound signals to the brain. What a powerful thing to be able to restore language and a deeper sense of connection to young children. In the case of Aissam Dam, it has given him a new perspective and way to navigate life. He can enter his teen years with a new lease and new opportunities. That's pretty awesome.
According to Dr. Chen, hearing loss affects more than 1.5 billion people worldwide, and 30 million of those cases are children who exhibit this genetic mutation. The children who were part of the current trial suffered from a condition known as DFNB9 total deafness because of a mutation in the OTOF gene.
The project, done in December 2022, was the first to make use of gene therapy to treat this condition, but several studies in various stages are targeting the same condition. Chen said that will hopefully accelerate work that, though it has taken years to reach this point, has recently seen rapid progress.
These treatments are currently experimental and target the specific (and rare) genetic condition, but this medical breakthrough has opened the door for doctors to find ways to treat a wide variety of other genetic hearing impairments in the future.
Hopeful news for a time that often serves up hopelessness.
