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A new breakthrough in gene therapy has shown promising results for children and adults with congenital deafness caused by mutations in the OTOF gene. Researchers from Karolinska Institutet and hospitals across China reported in the journal *Nature Medicine* that a single injection of a synthetic adeno-associated virus (AAV) delivering a functional copy of the OTOF gene led to significant improvements in hearing for all ten participants in the trial.
The OTOF gene is responsible for producing otoferlin, a protein essential for transmitting sound signals from the inner ear to the brain. In individuals with OTOF mutations, sound waves can be received, but the signals fail to reach the auditory nerve, resulting in deafness. The gene therapy provided a working copy of OTOF directly to the cochlea through a minimally invasive injection, without the need for hearing aids or implants.
Results indicated that most participants began to experience improvements within one month, with the average sound detection level shifting dramatically from 106 decibels, equivalent to a jackhammer, to 52 decibels, comparable to normal conversation. Children aged five to eight exhibited the most significant gains, likely due to their auditory cortex’s ability to adapt to new sound signals.
The trial also included older participants, with the youngest being one year old and the oldest 24, marking a significant step forward in treating a wider age range for this type of deafness. No serious adverse reactions were reported during the follow-up period, although some participants experienced a temporary drop in neutrophils, a type of white blood cell.
While OTOF mutations account for a smaller percentage of genetic hearing loss, researchers are optimistic about extending this gene therapy approach to more common mutations, such as those in the GJB2 and TMC1 genes. Preliminary animal studies have shown encouraging results, suggesting the potential for broader applications in treating genetic deafness.
The research team continues to monitor the long-term effects of the therapy to determine its durability and impact on quality of life. This development represents a significant advance in the field of genetic deafness treatment, offering hope for many who suffer from hearing loss due to genetic factors.
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