British toddler Opal Sandy has had her hearing restored thanks to a first-of-its-kind gene therapy. Eighteen-month-old Opal received the treatment as part of the CHORD study (sponsored by biotechnology company, Regeneron), which offers the therapy – DB-OTO – to children born with OTOF linked hearing loss. The Guardian reported last month that Opal’s parents “couldn’t really believe it,” when their daughter was able to hear for the first time after receiving the treatment.
Born unable to hear due to a type of hearing loss called auditory neuropathy, Opal’s hearing impairment was caused by a mutation in the OTOF gene. Children with this type of hearing loss don’t have enough of a protein called otoferlin, which enables inner ear cells to communicate with the brain.
At Sano, we have been proudly partnering with Decibel Therapeutics, which was acquired by Regeneron late last year, on a participant engagement and education platform for CHORD, which is live in the US and expanding to other countries in the future.
Breakthrough gene therapy
When there is an otoferlin deficiency, the brain and inner ear cells can’t communicate properly, resulting in the child being unable to perceive sound. Regeneron’s therapy delivers a healthy copy of the OTOF gene packaged inside a harmless virus (Adeno-Associated Virus) into the inner ear.
The infusion carrying the therapy was administered to Opal in an operation which took less than 20 minutes, and she now has close to perfect hearing.
The study is currently recruiting more children born with auditory neuropathy from the UK, Spain and the US.
Exceeding expectations
Professor Manohar Banceat, an ear surgeon at Cambridge university hospitals NHS foundation trust where Opal was treated, and chief investigator for the trial, was quoted saying that the results were “better than I hoped or expected”.
As we continue to collaborate on this study, we aim to improve access to genetic testing and precision medicine trials for the hearing loss community, and contribute to developing similar therapies for other types of genetic hearing loss.
Listen in
To learn more about the work Regeneron is doing in this area, check out a fascinating episode of The Genetics Podcast from 2022, in which the CEO of Decibel Therapeutics dives deep into gene therapy development, inner ear biology, and building a precision medicine biotech.
And as always, to find out more about how Sano is supporting teams to deliver pioneering new research, please get in touch below.
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