World-First Trial of Gene Therapy To Cure Form of Deafness Begins (ft.com) 14
An anonymous reader quotes a report from the Financial Times: A world-first trial of a gene therapy to cure a form of deafness has begun, potentially heralding a revolution in the treatment of hearing loss. Up to 18 children from the UK, Spain and the US are being recruited to the study, which aims to transform treatment of auditory neuropathy, a condition caused by the disruption of nerve impulses traveling from the inner ear to the brain. Participants will be monitored for five years to gauge whether their hearing improves, with initial results expected to be published next February.
Auditory neuropathy can be due to a variation in a single gene -- known as the OTOF gene -- which produces a protein called otoferlin. This protein typically allows the inner hair cells in the ear to communicate with the hearing nerve. Mutations in the OTOF gene can be identified by genetic testing. However, [Professor Manohar Bance, an ear surgeon at Cambridge University Hospitals NHS Foundation Trust who is leading the trial in the UK] said it was a condition often missed when newborn babies were screened for potential hearing problems. "This is one of the few conditions where everything works except the transmission between the hair cells and the nerve. So everything else looks fine when you test it, but they can't hear anything. So these poor kids' [difficulties] end up being missed," Bance added.
The new gene therapy aims to deliver a working copy of the faulty OTOF gene using a modified, non-pathogenic virus. It will be delivered via an injection into the cochlea under general anaesthetic. Bance estimates that about 20,000 people across the US and five European countries -- the UK, Germany, France, Spain and Italy -- have auditory neuropathy due to OTOF mutations, underlining the potential significance of a successful treatment.[...] "If it works, it's 'one and done'" but the cost to health systems "is something that worries me," he added, noting that gene therapies could be priced in "the million dollar range" per patient. However, he hoped that "economies of scale" as the technology developed further would ultimately allow them to be provided more cheaply.
Auditory neuropathy can be due to a variation in a single gene -- known as the OTOF gene -- which produces a protein called otoferlin. This protein typically allows the inner hair cells in the ear to communicate with the hearing nerve. Mutations in the OTOF gene can be identified by genetic testing. However, [Professor Manohar Bance, an ear surgeon at Cambridge University Hospitals NHS Foundation Trust who is leading the trial in the UK] said it was a condition often missed when newborn babies were screened for potential hearing problems. "This is one of the few conditions where everything works except the transmission between the hair cells and the nerve. So everything else looks fine when you test it, but they can't hear anything. So these poor kids' [difficulties] end up being missed," Bance added.
The new gene therapy aims to deliver a working copy of the faulty OTOF gene using a modified, non-pathogenic virus. It will be delivered via an injection into the cochlea under general anaesthetic. Bance estimates that about 20,000 people across the US and five European countries -- the UK, Germany, France, Spain and Italy -- have auditory neuropathy due to OTOF mutations, underlining the potential significance of a successful treatment.[...] "If it works, it's 'one and done'" but the cost to health systems "is something that worries me," he added, noting that gene therapies could be priced in "the million dollar range" per patient. However, he hoped that "economies of scale" as the technology developed further would ultimately allow them to be provided more cheaply.
Awesome (Score:5, Funny)
I hope deaf people hear about this.
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That's nice. (Score:3)
Now how about fixing my tinnitus?
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Even if it exists, will it be affordable?
The companies that develop these treatments don't see curing people as a viable business model, unless they can charge a massive up-front fee for it: https://www.cnbc.com/2018/04/1... [cnbc.com]
Being deaf turns the patient into a lucrative cash-cow for various aids and treatments. They are going to want a lifetime of lost profit in exchange for a cure.
Fortunately some country's healthcare systems can negotiate better deals for this kind of thing. Or maybe someone will make a ge
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Maybe fix the market system (broken by government) so that the incumbents are not the only firms that can bring this kind of treatment to market. Where competition exists, they will undercut each other's profit margins as long as they have some room to do so.
Informed opinions welcome (Score:2)
I'd love to know how people who are hearing impaired, deaf and deaf-mute feel about this. I suspect that the therapy happens before the patient can have enough agency to have a say must create some amount of apprehension at the very least.
Small population conditions (Score:4, Interesting)
This is an important development for the another reason: it's a medical (potential) cure for a disease affecting a small number of people.
One researcher (Berman Gind laboratories, Boston) mentioned to me that he had a gene therapy cure for one specific type of blindness that worked in mice, but that it would never be available or even tested on humans because there were only about 250 people in the US with that type of blindness. The cost of bringing a cure to the market was too high for the level of potential benefit.
He stated that there was absolutely no interest in pursuing treatments, or even cures, for small population diseases in the industry because everything is driven by the big pharmaceutical companies who were looking for avenues of profitability. The big companies want things that can be sold to almost everyone, and preferably for long term usage such as aspirin or birth control.
It sounds like this treatment will be a complete cure for a fairly small number of patients, and that's potentially a huge positive change for medical science.
Yeah, I dunno (Score:5, Interesting)
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