In a trial at the Eye & ENT Hospital of Fudan University in Shanghai, China six children were treated with a new gene therapy. The researchers, co-led by researchers from Mass Eye and Ear, demonstrated that a gene therapy restores hearing in children suffering from hereditary deafness. The children treated had a specific form of autosomal recessive deafness caused by a specific gene. This gene mutation causes a failure to produce a functioning otoferlin protein, which is needed to transmit sound signals from the ear to the brain.
The first patient was treated in December 2022. Their results were published January 24 in The Lancet.
"The results from this study are truly remarkable. We saw the hearing ability of children improve dramatically week by week, as well as the regaining of their speech," said Zheng-Yi Chen, DPhil, an associate scientist in the Eaton-Peabody Laboratories at Mass Eye and Ear.
There are no existing FDA-approved drugs to help with hereditary deafness, which has opened opportunities for new solutions such as gene therapies.
To test this new treatment, six children with the hearing defect were observed over a 26-week period at the Eye & ENT Hospital of Fudan University. The Mass Eye and Ear collaborators used a special virus carrying a version of the human gene to introduce the gene into the inner ears of the patients with a special surgical procedure. Differing doses of the single injection of the virus were used.
The six children in the study had total deafness, as preliminary testing showed. After 26 weeks, five children demonstrated hearing recovery, dramatic improvements in speech perception and the restored ability to converse normally. No dose-limiting toxicity was found. During followup, 48 adverse events were observed, with most (96%) being low grade, and the rest being temporary with no long-term impact.
The researchers will be expanding the trial to include a larger sample size and track results over a longer period of time to confirm that this gene therapy restores hearing.
Source: MedicalXpress
