A new clinical trial led by Shanghai Fudan University and researchers at Mass Eye and Ear has restored hearing in both ears in five children born deaf due to a mutation in the OTOF gene. A first.
Lucien Brenet, published on June 24, 2024
Yilai Shu MD, PhD, Professor, Director of the Center for Diagnosis and Treatment of Genetic Hearing Loss at Shanghai Fudan University Eye and ENT Hospital
Gene therapy trials launched around the world all have one thing in common: they show encouraging results. Recently, it was those of researchers from Fudan University in Shanghai, published in the journal Nature Medicine on June 5, 2024, who made headlines.
Scientists carried out tests on five children born deaf due to a mutation in the DFN89 gene, which prevented the production of otoferlin. As a reminder, this protein is essential for the transmission of auditory signals at the synapses of the sensory cells of the hearing organ.
Several conclusive tests
Result: the children tested regained hearing of approximately 50% of normal after treatment for several months and were able to localize sound in space and distinguish speech. The treatment consisted of introducing functional copies of the OTOF gene via an adeno-associated virus (AAV) into both ears, a first. Until now, interventions carried out within the framework of clinical trials were generally carried out on only one ear.
“The results of these studies are astonishing”said Zheng-Yi Chen, DPhil, co-senior author of the study and a scientist cited in a Mass Eye and Ear press release. “We continue to see dramatic progress in hearing in treated children, and the new study shows additional benefits of gene therapy when administered to both ears, including the ability to localize the sound source and improvements in speech recognition in noisy environments. »
And now ?
The study authors say there is still much work to be done to study and refine this research. The treatment of both ears indeed poses some difficulties. Already, it doubles the intervention time, and the injection of larger doses of AAV can induce an immune response causing adverse effects.
Research into gene therapy has made great strides in recent months. Last May, in the United Kingdom, Opal Sandy, a child suffering from auditory neuropathy, regained almost normal hearing after gene therapy. In the United States, 11-year-old Aissam Dam regained his hearing after injecting functional copies of the otoferlin gene. In France, the French biotech Sensorion and its partner the Institut Pasteur have obtained authorization for the treatment of deafness linked to otoferlin dysfunction.
