Gene therapy restores hearing to children with inherited deafness

[bnew]

Gene therapy restores hearing to children with inherited deafness

The first clinical trial to administer gene therapy to both ears in one person has restored hearing function to 5 children born with a form of inherited

cosmosmagazine.com

Gene therapy restores hearing to children with inherited deafness​

Credit: Nick Dolding/Getty Images

June 7, 2024

The first clinical trial to administer gene therapy to both ears in one person has restored hearing function to 5 children born with a form of inherited deafness, astounding the research team..

Two of the children even gained an ability to appreciate music.

The success of the new approach is detailed in a new study published in Nature Medicine. The work builds on the first phase of the trial, published earlier this year, in which children were treated in a single ear.

“The results from these studies are astounding,” says study co-senior author Zheng-Yi Chen, an associate scientist in the Eaton-Peabody Laboratories at Massachusetts Eye and Ear in the US.

“We continue to see the hearing ability of treated children dramatically progress and the new study shows added benefits of the gene therapy when administrated to both ears, including the ability for sound source localisation and improvements in speech recognition in noisy environments.”

Lead author Yilai Shu, an attending doctor in otolaryngology and an investigator at Eye and Ear, Nose, Throat hospital of Fudan University, China, says: “restoring hearing in both ears of children who are born deaf can maximise the benefits of hearing recovery.

“These new results show this approach holds great promise and warrants larger international trials.”

The children involved in the study were born with DFNB9, which accounts for between 2 and 8% of hereditary deafness. It is caused by mutations in the OTOF gene which prevent the production of functioning otoferlin protein, which can significantly reduce sound transmission from the inner ear hair cells to hearing nerves.

Through minimally invasive surgery, Shu injected adeno-associated virus (AAV) engineered to carry and deliver functioning copies of the human OTOF transgene, into the children’s inner ears.

All 5 children were observed over a 13 or 26-week period and showed hearing recovery in both ears, with “dramatic” improvements in speech perception and sound localisation.

During follow-up, 36 adverse events were observed, the most common being increased white blood cell counts and increased cholesterol levels. However, there were no dose-limiting toxicity or serious adverse events.

The trial is continuing, and participant are stillbeing monitored.

The authors say their results show that the gene therapy is “feasible, safe, and efficacious”.

 

[Neo. The Only. The One.]

Let's go

 

[BandOfGypsys]

The beauty of science when it's used for good.

 

[How Sway?]

Yeah this may be a game changer for every type of inherited disease

 

[Nymbus]

inb4 "this is against nature!!"

 

[Neuromancer]

Science for the win.

 

[bnew]

this might lead to the loss of sign language overtime.

 

[KingTxo]

 

[itsyoung!!]

this might lead to the loss of sign language overtime.

….and thats a bad thing? What a stupid fukking post

 

[Elim Garak]

That's amazing.

 

[fscballin]

If y’all want to be part human part robot so be it



Most humans are dumb gullible and too lazy to do real research. Articles like this evidently do the thinking for yall

 

[bnew]

….and thats a bad thing? What a stupid fukking post

there is such a thing as deaf culture and many people are proud of it especially when they have been made to feel less than because of their disability.

Why Deaf People Oppose Using Gene Editing to "Cure" Deafness

Researchers have figured out how to use a gene-editing tool called CRISPR 2.0 to prevent and treat deafness. But many deaf people are happy the way they are.

www.discovermagazine.com

A brief history of Black Deaf people in America | Hearing Like Me

The history of Black Deaf people in America have largely been overlooked or simply not recorded, includin Black American Sign Language.

www.hearinglikeme.com

there even Black ASL

Black American Sign Language - Wikipedia

en.wikipedia.org

the loss of language and knowledge is always a sad thing.

 

[bnew]

More children gain hearing as gene therapy for profound deafness advances

The therapy treats a rare type of deafness, but experts hope it's a "jumping point."

arstechnica.com

More children gain hearing as gene therapy for profound deafness advances​

The therapy treats a rare type of deafness, but experts hope it's a "jumping point."​

BETH MOLE - 5/10/2024, 6:08 PM

Enlarge / Opal Sandy (center), who was born completely deaf because of a rare genetic condition, can now hear unaided for the first time after receiving gene therapy at 11 months old. She is shown with her mother, father, and sister at their home in Eynsham, Oxfordshire, on May 7, 2024.

Getty | Andrew Matthews

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There are few things more heartwarming than videos of children with deafness gaining the ability to hear, showing them happily turning their heads at the sound of their parents' voices and joyfully bobbing to newly discovered music. Thanks to recent advances in gene therapy, more kids are getting those sweet and triumphant moments—with no hearing aids or cochlear implants needed.

At the annual conference of the American Society for Gene & Cell Therapy held in Baltimore this week, researchers showed many of those videos to their audiences of experts. On Wednesday, Larry Lustig, an otolaryngologist at Columbia University, presented clinical trial data of two children with profound deafness—the most severe type of deafness—who are now able to hear at normal levels after receiving an experimental gene therapy. One of the children was 11 months old at the time of the treatment, marking her as the youngest child in the world to date to receive gene therapy for genetic deafness.

On Thursday, Yilai Shu, an otolaryngologist at Fudan University in Shanghai, provided a one-year progress report on six children who were treated in the first in-human trial of gene therapy for genetic deafness. Five of the six had their hearing restored.

That trial, like the one Lustig presented, involved treating just one ear in all of the children—a safety precaution for such early trials. But Shu and colleagues have already moved on to both ears, or bilateral treatment. After presenting a progress report on the first trial, Shu presented unpublished early data on five additional patients who participated in the first in-human trial of bilateral treatment. All had bilateral hearing restoration and speech perception improvement.

"The opportunity of providing the full complexity and spectrum of sound in children born with profound genetic deafness is a phenomenon I did not expect to see in my lifetime," Lustig said in a statement.

Jumping point​

Shu and Lustig's trials are separate, but the treatments are, in broad strokes, similar. Both are aimed at restoring hearing loss caused by mutations in the OTOF gene that codes for the protein otoferlin. Normally, otoferlin is a critical protein for transmitting sound signals to the brain, specifically playing a key role in synaptic transmission between the ear's inner hair cells and the auditory nerve. Using gutted adeno-associated viruses as vectors for gene delivery, the therapies provide the inner ear with a functional version of the OTOF gene. Once in the ear, the gene can be translated into functional otoferlin, restoring auditory signaling.

In the trial Lustig presented, the two patients saw a gradual improvement of hearing as otoferlin protein built up after treatment. For the 11-month-old, normal levels of hearing were restored within 24 weeks of treatment. For the second patient, a 4-year-old, improvements were detected at a six-week assessment. In the trial Shu presented, children began seeing hearing improvements at three- and four-week assessments. The children will continue to be followed into the future, which holds some uncertainties. It's unclear if they will, at some point in their lives, need additional treatments to sustain their hearing. In mice, at least, the treatment lasts for the duration of the animals' lives—but they only live for a few years.

"We expect this to last a long time," Lustig said Wednesday. But "we don't know what's going to happen and we don't know whether we can do a second dose. But, probably, I would guess, at some point that would have to be done."

For now, the treatment is considered low-hanging fruit for the burgeoning field of gene therapy since it targets a severe condition caused by recessive mutations in a single gene. Otoferlin mutations lead to a very specific type of deafness called auditory neuropathy, in which the ear fails to send signals to the brain but works perfectly fine otherwise. This is an ultra-rare form of deafness affecting 1–8 percent of people with deafness globally. Only about 30 to 50 people in the US are born with this type of deafness each year.

However, Lustig calls it a "jumping point." Now that researchers have shown that this gene therapy can work, "This is going to really spark, we hope, the development of gene therapy for more common types of deafness," he said.