Amazing science news this week comes from the UK, where a 1 year old baby who was born deaf due to a genetic condition called auditory neuropathy was treated with gene therapy.
Six months later, the researchers involved in this ground-breaking study, which was presented at the annual meeting of the American Society of Gene and Cell Therapy in Baltimore this week, reported that the toddler can now hear unaided and her prognosis is great for her being able to hear in the future.
Auditory neuropathy is caused by a variation in a gene called the OTOF gene. This gene produces the protein needed to allow the inner hair cells in the ear to communicate with the hearing nerve which sends signals to the brain. Patients with the condition are unable to hear as the lack of proteins mean the ear cells can't communicate with the brain.
The gene therapy treatment involved the baby being given an injection into her cochlea that contained a modified virus called AAV1 which was loaded with a working copy of the OTOF gene. This virus delivered the working gene to the ear cells, and the gene-reading machinery within those cells used the new information to build RNA which directs the correct proteins to be made that can carry out their job as normal. The amazing thing about gene therapy is that you only need one treatment for the results to last a lifetime.
One of the impressive things about this study is the young age of the patient.
Typically, auditory neuropathy isn’t diagnosed until a child is 3 years old. However because the older sister of this patient was also born with auditory neuropathy, the diagnosis was given in this patient when they were only a few weeks old. By being able to determine and treat the cause of her deafness before the age of one, the researchers believe that she won’t have significant delays in her speech as she grows up.
While gene therapy is relatively new, we are working on a gene therapy here in New Zealand at the Malaghan institute that treats cancer, called CAR-T cell therapy.
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