Researchers in Spain are testing a groundbreaking gene therapy aimed at restoring hearing in children and adolescents suffering from profound hearing loss due to a congenital defect in the otoferlin (OTOF) gene. The therapy is currently being trialed at three hospitals, with a total of 10 patients aged up to 16 recruited for the study.
The participating hospitals include Hospital Universitario Ramón y Cajal in Madrid, Clínica Universidad de Navarra in Pamplona, and Complejo Hospitalario Universitario Insular Materno-Infantil in Las Palmas de Gran Canaria. Preliminary results from this research are being presented at the 75th National Congress of the Spanish Society of Otolaryngology and Head and Neck Surgery (SEORL-CCC), held from October 23 to 26 in Málaga.
Patients undergo surgery to receive the treatment, which involves the introduction of a genetically modified virus into the cochlea using a method similar to that of cochlear implants. Dr. Rubén Polo, a member of the SEORL-CCC’s Otology Commission and the principal investigator at Hospital Universitario Ramón y Cajal, explained that this procedure aims to restore the functionality of the otoferlin gene.
Initial results are promising, although the patient sample is small, with four individuals treated in Spain out of the 10 recruited, alongside about 20 in the first trial conducted in China. “We are observing auditory responses as early as one month post-surgery, with some responses appearing even sooner. However, we must wait between three to six months to evaluate the effectiveness of this gene therapy,” Dr. Polo noted.
This gene therapy targets a specific type of profound hearing loss caused by mutations in the otoferlin gene. It utilizes a genetically modified virus that carries a functional copy of the otoferlin gene. While currently focused on this particular condition, SEORL-CCC President Manuel Bernal suggested that the findings from this study could potentially be applied to other forms of hearing loss caused by mutations in different genes.