UK Toddler Has Hearing Restored In World First Gene Therapy Trial (theguardian.com) 40
An anonymous reader quotes a report from The Guardian: A British toddler has had her hearing restored after becoming the first person in the world to take part in a pioneering gene therapy trial, in a development that doctors say marks a new era in treating deafness. Opal Sandy was born unable to hear anything due to auditory neuropathy, a condition that disrupts nerve impulses traveling from the inner ear to the brain and can be caused by a faulty gene. But after receiving an infusion containing a working copy of the gene during groundbreaking surgery that took just 16 minutes, the 18-month-old can hear almost perfectly and enjoys playing with toy drums. [...] The girl, from Oxfordshire, was treated at Addenbrooke's hospital, part of Cambridge university hospitals NHS foundation trust, which is running the Chord trial. More deaf children from the UK, Spain and the US are being recruited to the trial and will all be followed up for five years. [...]
Auditory neuropathy can be caused by a fault in the OTOF gene, which makes a protein called otoferlin. This enables cells in the ear to communicate with the hearing nerve. To overcome the fault, the new therapy from biotech firm Regeneron sends a working copy of the gene to the ear. A second child has also recently received the gene therapy treatment at Cambridge university hospitals, with positive results. The overall Chord trial consists of three parts, with three deaf children including Opal receiving a low dose of gene therapy in one ear only. A different set of three children will get a high dose on one side. Then, if that is shown to be safe, more children will receive a dose in both ears at the same time. In total, 18 children worldwide will be recruited to the trial. The gene therapy -- DB-OTO -- is specifically for children with OTOF mutations. A harmless virus is used to carry the working gene into the patient.
Auditory neuropathy can be caused by a fault in the OTOF gene, which makes a protein called otoferlin. This enables cells in the ear to communicate with the hearing nerve. To overcome the fault, the new therapy from biotech firm Regeneron sends a working copy of the gene to the ear. A second child has also recently received the gene therapy treatment at Cambridge university hospitals, with positive results. The overall Chord trial consists of three parts, with three deaf children including Opal receiving a low dose of gene therapy in one ear only. A different set of three children will get a high dose on one side. Then, if that is shown to be safe, more children will receive a dose in both ears at the same time. In total, 18 children worldwide will be recruited to the trial. The gene therapy -- DB-OTO -- is specifically for children with OTOF mutations. A harmless virus is used to carry the working gene into the patient.
As a parent (Score:3)
As a parent I cannot help but empathize with these children's parents. The weight of balancing life long deafness with a medical experiment (trial) that could have terrible side effects would eat you up at night. Thankfully this little girl seems to have her hearing now and will be revered as a pioneer. Here's to high standards in medical research excellence.
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Yeah, I’m just saying how difficult it is to make a decision to volunteer your child, who cannot volunteer themselves or understand any risks or rewards, for a medical trial. It’s obvious with hearing, in this case, it must be done at a young age before the brain wires itself for deafness.
There will always need to be trials, and pediatric trials cannot be done on adults. But these kids can’t make the decision as to whether or not they want to try their luck. Nothing against the procedure
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As an autist with really sensitive hearing and a snoring wife, I can't help but agree.
Hearing is a curse in this world half the time.
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Hearing is a curse in this world half the time.
My dad turns off his hearing aid when he wants some peace and quiet.
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As an autist with really sensitive hearing and a snoring wife, I can't help but agree.
I have really sensitive hearing too, and I have found it to be highly advantageous, especially when other people think you can't hear what they are saying. For me there's no such thing as "behind my back."
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Yes not-deaf people can do that too with earplugs or noise canceling headphones.
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Did you ever try it?
I guess no.
Or you would know: it does not work!
Or you are half deaf already anyway?
Re: As a parent (Score:2)
Get better gear? With the headphones at work, I can stand next to industrial engines and barely hear it. Peopleâ(TM)s voices? Definitely silenced. (I have no idea what brand they are. Theyâ(TM)re orange.)
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Ear plugs, do not work. My ears are to sensitive. And unless you have already serious ear/hearing damage, it does not work on you either.
Noise canceling ear buds do not work. Don't have the frequency range. Perhaps they can cancel out traffic, should try that again.
Noise canceling stereo boxes can/do work. But you usually do not carry them around.
So, the only thing that half way works are head phones. But difficult to sleep with them.
Re: As a parent (Score:2)
Or you know, there are different levels of noise absorption and/or cancellation. Just because it doesn't exist in your dumb little reich doesn't mean it's impossible.
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Never said it is impossible.
So why answer?
Want to spill some hate?
Then why pick on me and not on a nazi or something?
Re: As a parent (Score:2)
Read the description here:
https://en.m.wikipedia.org/wik... [wikipedia.org]
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They can also just tell people to shut the fuck up.
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This is a similar take to the dad in Sound and Fury: https://www.youtube.com/watch?... [youtube.com]
I'm sorry you're deaf and I hope you can hear normally one day. Everyone is too afraid of looking mean these days to just flat out tell you otherwise and to nod along when you say stuff like this.
Rare disease treatment (Score:2)
As a parent I cannot help but empathize with these children's parents. The weight of balancing life long deafness with a medical experiment (trial) that could have terrible side effects would eat you up at night. Thankfully this little girl seems to have her hearing now and will be revered as a pioneer. Here's to high standards in medical research excellence.
Another important detail: this is a treatment for a disease that's relatively rare(*).
I've spoken to doctors that have cures for diseases, but can't get the funding needed to get FDA approval. One doctor I spoke to had a genetic cure for a disease that has 240 patients in the US. Granted the cure hasn't been tested, but if we can't test *any* potential cure then we'll never be able to cure this particular disease.
So yes. In addition to restoring hearing in a young girl, testing the safety of a genetic cure,
Re: Rare disease treatment (Score:2)
Birds can regenerate lost hearing (Score:3)
https://pubmed.ncbi.nlm.nih.go... [nih.gov]
Maybe flying, diving landing etc strain the ear via continuous loud noises.
Re: Birds can regenerate lost hearing (Score:2)
Birds are loud AF when they're right in your ear, they probably do it to themselves.
Oh sure... focus on the children... (Score:1)
Meanwhile the buzzsaw that is my tinnitus remains unaddressed.
To be fair, my problem is my fault... but I have money! I wish to wave the magic money wand at the problem and make it go away... but alas... I suspect my time will run out before this problem is researched away.
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Meanwhile the buzzsaw that is my tinnitus remains unaddressed.
I suspect my time will run out before this problem is researched away.
Unaddressed by whom [newscientist.com]?
(unfortunately article may be paywalled, sorry)
Deaf community (Score:2, Interesting)
These sort of advances are usually followed by "members of the community" complaining that their culture is under attack and will be wiped out by advancing medical science.
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You got marked Troll, but anyone who thinks this is a crazy opinion I invite to watch 'Sound and Fury" https://www.youtube.com/watch?... [youtube.com]
This is a real take - that being Deaf is somehow 'better', or at the very least not a disability. They actually call us 'hearing' like how we call them 'deaf'.
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I'm fine with being labeled troll, although that was not my intent. I was aiming for gentle but honest humour. My tinnitus is constant but not life debilitating. I don't actually begrudge children this research. I encourage it. I missed a smiley face strategically placed.
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I have severe tinnitus and stage 4 colon cancer with less than a year life expectancy at this point. I'm 53 and have a 8 year old child.
Be glad you just have tinnitus.
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These sort of advances are usually followed by "members of the community" complaining that their culture is under attack and will be wiped out by advancing medical science.
Like antivaxers, they richly deserve to be marginalized by their own stupidity. They have even been known to encourage genetically deaf people to seek out genetically deaf mates, in hopes of creating their own race of morally superior deaf people.
Re:Hang on... (Score:5, Insightful)
NHS let a "defective" child LIVE?
There's a world of difference between this case and the one I suspect you're alluding to.
One can debate the rights and wrongs of 'withholding' hundreds of thousands of pounds (yearly) of treatment to prolong the life of a child who will never have any ability to do anything at all for themselves, including talking, getting out of bed, or even eating without being fed, but one should probably first accept that there are limits to what modern medicine can achieve - even if unlimited funds were available, which clearly isn't the case. Of course it's heart-breaking for the parents of that child, and clearly their case was highly visible and emotive, but the treatments that money could provide for others are equally emotive for those involved, if considerably less 'visible' in the public sphere.
Personally I think your characterisation (or slur, if you prefer) of the NHS is, in this case, unjustified...
I would pay dearly (Score:2)
For a gene therapy shot to cure my tinnitus.
Incidentally I could use gene therapy to cure my phantom pain too, but I can deal with that one since it's infrequent. Still, when it happens, I'd really rather it didn't.
Mirror boxes (Score:2)
For a gene therapy shot to cure my tinnitus.
Incidentally I could use gene therapy to cure my phantom pain too, but I can deal with that one since it's infrequent. Still, when it happens, I'd really rather it didn't.
Assuming your phantom pain is from a lost limb, check out the use of mirror boxes. They're cheap to build, non-invasive, and apparently cure this particular affliction.
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Both sides lost. No mirror therapy for me :)
git apply fix_hearing.patch (Score:3)
Pretty soon you'll be able to just apply patches to yourself. I'm waiting for:
git apply hair.patch
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Biology is too messy, can't even do backups. Better to dist-upgrade to digital.
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(Removes eyeglasses and rubs eyes)
The entire biology of reproduction/replication is a dynamic backup process, operating at the population level.
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Nature doesn’t do. Backups. You say?
(Removes eyeglasses and rubs eyes)
The entire biology of reproduction/replication is a dynamic backup process, operating at the population level.
If that's a backup it's a really fucking bad one given that the original design wasn't even eukaryotic. We've got more feature creep than Star Citizen.
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