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Children with inherited deafness can now hear thanks to an experimental gene therapy treatment.
Science & Health

Children with inherited deafness can now hear thanks to an experimental gene therapy treatment.

Thanks to gene therapy, numerous children who were born with inherited deafness are now able to hear.

A recent study, released on Wednesday, reported that five out of six children treated in China experienced significant improvement in their hearing. On Tuesday, the Children’s Hospital of Philadelphia also reported similar positive results for an 11-year-old boy who received treatment there. Additionally, Chinese researchers published a study earlier this month demonstrating similar outcomes for two other children.

Currently, the experimental treatments are focused solely on a single uncommon condition. However, researchers suggest that these same therapies may eventually benefit numerous children with different forms of genetic-related hearing loss.

Worldwide, there are 34 million children who have deafness or hearing loss, with genes being the cause in 60% of cases. Researchers are currently focusing on using gene therapy to treat hereditary deafness, which has already been approved for other conditions like sickle cell disease and severe hemophilia.

Many children who have inherited deafness often receive a cochlear implant, a device that aids in their ability to hear sounds.

“According to Zheng-Yi Chen, a senior author of the study published in the journal Lancet, there is currently no treatment available to reverse hearing loss. This is why we have been continuously working to develop a therapy. The results of our study have brought us immense happiness and excitement.”

The patients’ progress was documented through video recordings by the team. In one video, a baby who had previously shown no signs of hearing can be seen responding to a doctor’s words after six weeks of treatment. Another video shows a young girl, 13 weeks after treatment, repeating words such as father, mother, grandmother, sister, and “I love you.”

The participants in the studies are all children who have a genetic condition that contributes to 2-8% of inherited hearing loss. This condition is caused by changes in a gene that controls a protein in the inner ear called otoferlin, which plays a role in sending sound signals to the brain. A single therapy is administered during surgery to provide a working version of the gene to the inner ear. While most participants received treatment in one ear, one child in a two-person study was treated in both ears.

A child experiences hearing their father’s voice for the very first time.

Six children participated in a research study at Fudan University in Shanghai, which was co-led by Dr. Yilai Shu, a member of Chen’s lab. The study was conducted in collaboration with Chinese science organizations and the biotech company Shanghai Refreshgene Therapeutics.

During a six-month observation period, researchers noted that one child did not respond to the treatment, but they are unsure of the reason. However, the remaining five children, who were originally completely deaf, are now able to engage in regular conversations and communicate with others. Chen approximates that their hearing has improved to around 60% to 70% of the average level. The therapy did not result in any significant adverse effects.

Initial findings from additional studies have also yielded promising results. In October, Regeneron Pharmaceuticals in New York announced positive outcomes for a child under 2 who participated in a gene therapy study sponsored by Decibel Therapeutics. Additionally, a patient named Aissam Dam from Spain, who was treated in October as part of a test sponsored by Eli Lilly subsidiary Akouos, was able to hear sounds for the first time, as reported by the Philadelphia hospital where the study took place. Although the sounds are currently muffled as if he is wearing foam earplugs, Dr. John Germiller, the lead researcher in Philadelphia, stated that he is now able to hear his father’s voice and sounds from cars on the road.

Germiller stated that there was a significant enhancement. The individual’s hearing has progressed from being completely and severely deaf with no ability to perceive sound, to a mild to moderate hearing loss, which can be considered a minor disability. This is thrilling news for us and for everyone involved.

Dr. Lawrence Lustig of Columbia University, who is participating in the Regeneron study, stated that although the children involved may not achieve complete hearing restoration, the improvement of even a moderate hearing loss is quite remarkable.

However, he noted that there are still many unanswered questions, including the duration of the therapies and whether the children’s hearing will continue to improve.

The ethics of the deaf community are being examined.

Some individuals find gene therapy for deafness to be a moral dilemma. Teresa Blankmeyer Burke, a philosophy professor and bioethicist at Gallaudet University who is also deaf, stated in an email that there is no agreement on the necessity of using gene therapy to address deafness. She also highlighted that deafness does not lead to severe or life-threatening conditions like sickle cell disease does. She emphasized the importance of involving members of the deaf community in discussions about the importance of gene therapy, “especially as it is seen by many as a potential threat to the well-being of signing Deaf communities.”

In the meantime, the researchers stated that their project is progressing.

According to Chen, this serves as concrete evidence that gene therapy is effective. This breakthrough has the potential to greatly advance the entire field.