Although this affects a small number of people / kids per year - this is a great development. There's a related article^ which had a very moving account from a mom whose son has received this treatment.
"These kind of genetic therapies seem to reinforce this idea of deafness being a problem in need of eradication, and that the only solution for disabled people to fully assimilate into society is through a medical intervention," says Jaipreet Virdi
This just seems so incredibly stupid to me.
To some in the Deaf community, being Deaf is like skin color or hair color or height or left handedness; a normal variation of humanity with its own culture. "Fixing" reads as genocide to them, and it's not entirely unwarranted.
Coincidentally, I'm reading this at the doctor's office reception, waiting to check my (potentially genetic) hearing loss. Hope it's something simpler, but good to know there are advances in this area.
This is a very cool example of a targeted gene therapy for a very specific type of hearing loss. As the article says it only applies to a subtype of genetic hearing loss which makes up 2-8% of genetic cases, but it’s nice to see such niche therapies being developed and approved despite the smaller number of people who could benefit. It underwent an accelerated review through a new program met to fast track treatments for rare conditions like this which would normally be difficult to get approved due to the small scale.
Very positive news. I have something similar but in a much more difficult gene with different manifestation, but at least this gives me hope that something might come up in 1-2 decades.
This is good news, but I still have concerns.
Otoferlin [1] uses calcium as a cofactor. These mutations happen for a reason. The enzyme is not only located in the ear, but also in the brain and bone marrow [2].
Will there be repercussions if the virus leaves the local area when the therapy is injected?
These OTOF mutation have their highest expression in the Turkish population. Many people with other variations of this gene only experience deafness when they have a fever[3]. So in my opinion, I would like to see ten year outcomes before celebrating.
There are a lot of risks with retroviral genetic therapy. However, there are a lot of upsides. I think what we need most, is to gain as much knowledge as possible, to ensure we can treat anything untoward as a result.
In terms of 'leaving the local area', there was a recent treatment intended to be done on one eye first, just in case it did not go as planned. It spread to the other eye:
Viral vector DNA was detected in the anterior segment, retina and optic nerve of the untreated eye. The unexpected visual improvement observed in the untreated eyes could therefore reflect the interocular diffusion of rAAV2/2-ND4. Further investigations are needed to confirm these findings and whether other mechanisms are contributing to this bilateral improvement.
Seeing as the eye was directly injected, it's unclear how it spread. Blood, likely.
Good to have concerns, but if I was deaf I'd weigh them based on how much I want to hear and discuss the risks with my doctor.
Personally I think I would want to hear once in my life, even if it meant a potentially shorter life.
I'm glad the Trump admin prioritized this.
[flagged]
Actually I am unaware about what FDA policy changes helped this, can you elaborate ?
There has been a string of massive changes under the new admin.
“President Trump promised to accelerate cures for American families — and we are delivering, especially for children with ultra-rare diseases who cannot afford to wait,” said Health and Human Services Secretary Robert F. Kennedy, Jr. “We are cutting unnecessary red tape, aligning regulation with modern biology, and clearing a path for breakthrough treatments to reach the patients who need them most.”
“This guidance is a critical step the FDA is taking to tailor our regulatory approach to patients with ultra-rare conditions,” said FDA Commissioner Marty Makary, MD, MPH. “It is our priority to remove barriers and exercise regulatory flexibility to encourage scientific advances and deliver more cures and meaningful treatments for patients suffering from rare diseases.”
Now, you can be caught in the fun partisan civil war on emotions or simply look at outcomes. Good work being done at the FDA, just fact.
What actual regulatory changes have they made though?
You're right, but because nuance isn't allowed on HN, you'll be down voted.
Primarily the focus has shifted to faster approvals with evidence for new methods and drugs coming down to one high quality trial, and removed stipulations for randomized control trials for ultra rare diseases.
> You're right, but because nuance isn't allowed on HN, you'll be down voted.
Nuance is fine. There's not much nuance in the parent post.
Although this affects a small number of people / kids per year - this is a great development. There's a related article^ which had a very moving account from a mom whose son has received this treatment.
^: https://www.npr.org/2026/04/23/nx-s1-5795526/deafness-gene-t...
To some in the Deaf community, being Deaf is like skin color or hair color or height or left handedness; a normal variation of humanity with its own culture. "Fixing" reads as genocide to them, and it's not entirely unwarranted.
Coincidentally, I'm reading this at the doctor's office reception, waiting to check my (potentially genetic) hearing loss. Hope it's something simpler, but good to know there are advances in this area.
This is a very cool example of a targeted gene therapy for a very specific type of hearing loss. As the article says it only applies to a subtype of genetic hearing loss which makes up 2-8% of genetic cases, but it’s nice to see such niche therapies being developed and approved despite the smaller number of people who could benefit. It underwent an accelerated review through a new program met to fast track treatments for rare conditions like this which would normally be difficult to get approved due to the small scale.
Very positive news. I have something similar but in a much more difficult gene with different manifestation, but at least this gives me hope that something might come up in 1-2 decades.
This is good news, but I still have concerns.
Otoferlin [1] uses calcium as a cofactor. These mutations happen for a reason. The enzyme is not only located in the ear, but also in the brain and bone marrow [2].
Will there be repercussions if the virus leaves the local area when the therapy is injected?
These OTOF mutation have their highest expression in the Turkish population. Many people with other variations of this gene only experience deafness when they have a fever[3]. So in my opinion, I would like to see ten year outcomes before celebrating.
[1] https://www.uniprot.org/uniprotkb/Q9HC10/entry
[2] https://www.proteinatlas.org/ENSG00000115155-OTOF/tissue
[3] https://www.frontiersin.org/journals/cell-and-developmental-...
There are a lot of risks with retroviral genetic therapy. However, there are a lot of upsides. I think what we need most, is to gain as much knowledge as possible, to ensure we can treat anything untoward as a result.
In terms of 'leaving the local area', there was a recent treatment intended to be done on one eye first, just in case it did not go as planned. It spread to the other eye:
https://www.cam.ac.uk/research/news/gene-therapy-injection-i...
Viral vector DNA was detected in the anterior segment, retina and optic nerve of the untreated eye. The unexpected visual improvement observed in the untreated eyes could therefore reflect the interocular diffusion of rAAV2/2-ND4. Further investigations are needed to confirm these findings and whether other mechanisms are contributing to this bilateral improvement.
Seeing as the eye was directly injected, it's unclear how it spread. Blood, likely.
Good to have concerns, but if I was deaf I'd weigh them based on how much I want to hear and discuss the risks with my doctor.
Personally I think I would want to hear once in my life, even if it meant a potentially shorter life.
I'm glad the Trump admin prioritized this.
[flagged]
Actually I am unaware about what FDA policy changes helped this, can you elaborate ?
There has been a string of massive changes under the new admin.
Latest in this area: https://www.fda.gov/news-events/press-announcements/fda-laun...
“President Trump promised to accelerate cures for American families — and we are delivering, especially for children with ultra-rare diseases who cannot afford to wait,” said Health and Human Services Secretary Robert F. Kennedy, Jr. “We are cutting unnecessary red tape, aligning regulation with modern biology, and clearing a path for breakthrough treatments to reach the patients who need them most.”
“This guidance is a critical step the FDA is taking to tailor our regulatory approach to patients with ultra-rare conditions,” said FDA Commissioner Marty Makary, MD, MPH. “It is our priority to remove barriers and exercise regulatory flexibility to encourage scientific advances and deliver more cures and meaningful treatments for patients suffering from rare diseases.”
Now, you can be caught in the fun partisan civil war on emotions or simply look at outcomes. Good work being done at the FDA, just fact.
What actual regulatory changes have they made though?
You're right, but because nuance isn't allowed on HN, you'll be down voted.
Primarily the focus has shifted to faster approvals with evidence for new methods and drugs coming down to one high quality trial, and removed stipulations for randomized control trials for ultra rare diseases.
> You're right, but because nuance isn't allowed on HN, you'll be down voted.
Nuance is fine. There's not much nuance in the parent post.