In a medical marvel that could redefine treatment for congenital deafness, researchers have successfully reversed hearing loss in children and adults with a single shot of gene therapy.

The results, published in Nature Medicine, show that within weeks of receiving a viral injection carrying the healthy OTOF gene, all ten patients in the study began to hear—some for the first time in their lives.

A heartwarming result came from a seven-year-old girl who, four months after treatment, was able to hold fluent conversations with her mother. Her dramatic recovery echoes the pattern seen across the study: rapid hearing gains, especially in children between ages five and eight.

The therapy, developd by Otovia Therapeutics and conducted with institutions including Karolinska Institutet and hospitals across China, uses an adeno-associated virus (AAV) to deliver a functional copy of the OTOF gene directly to the cochlea. This gene enables the production of otoferlin—a key protein for translating sound into signals the brain can understand.

“This is a huge step forward in the genetic treatment of deafness, and it’s just the beginning,” said Dr. Maoli Duan, co-author and consultant at Karolinska Institutet.

The study comprise’ ten patients between the ages of 1 and 24 at five hospitals in China, all of whom had a genetic form of deafness or severe hearing impairment caused by mutations in a gene called OTOF. These mutations cause a deficiency of the protein otoferlin, which plays a critical part in transmitting auditory signals from the ear to the brain

The gene therapy involved using a synthetic adeno-associated virus (AAV) to deliver a functional version of the OTOF gene to the inner ear via a single injection through a membrane at the base of the cochlea called the round window.

The effect of the gene therapy was rapid and the majority of the patients recovered some hearing after just one month. A six-month follow-up showed considerable hearing improvement in all participants, the average volume of perceptible sound improving from 106 decibels to 52.

The younger patients, especially those between the ages of five and eight, responded best to the treatment. One of the participants, a seven-year-old girl, quickly recovered almost all her hearing and was able to hold daily conversations with her mother four months afterwards. However, the therapy also proved effective in adults.

“Smaller studies in China have previously shown positive results in children, but this is the first time that the method has been tested in teenagers and adults, too,Hearing was greatly improved in many of the participants, which can have a profound effect on their life quality. We will now be following these patients to see how lasting the effect is,” says Duan.

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The results also show’that the treatment was safe and well-tolerated. The most common adverse reaction was a reduction in the number of neutrophils, a type of white blood cell. No serious adverse reactions were reported in the follow-up period of 6 to 12 months.

“OTOF is just the beginning. We and other researchers are expanding our work to other, more common genes that cause deafness, such as GJB2 and TMC1. These are more complicated to treat, but animal studies have so far returned promising results. We are confident that patients with different kinds of genetic deafness will one day be able to receive treatment, ” Duan said.

The study was conducted in collaboration with a number of institutions, including Zhongda Hospital, Southeast University, China, and was financed by several Chinese research program and Otovia Therapeutics Inc., the company that has developed the gene therapy and that employs many of the researchers involved in the study.

Researchers are now setting their sights on other genes linked to more common forms of deafness, such as GJB2 and TMC1, while these present greater challenges, early trials in animal models are encouraging.

The gene therapy showed no serious side effects. The most common issue was a temporary drop in neutrophils—a type of white blood cell—but none of the patients experienced major complications over the 6-12 month follow-up period. (Saturday Vanguard)