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In a recent study published in Nature Medicine , researchers evaluated the safety and effectiveness of binaural adeno-associated virus 1 (AAV1)-human otoferlin (hOTOF) therapy in five children with autosomal recessive deafness 9 (DFNB9). Study: Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results . Image Credit: GUNDAM_Ai/Shutterstock.

com Millions of individuals worldwide suffer from hearing loss as a result of OTOF gene abnormalities, which cause DFNB9. Gene therapy is a viable treatment option for hereditary deafness, with research indicating that unilateral AAV1-hOTOF gene therapy is safe and related to functional benefits. Bilateral hearing restoration may provide additional benefits, such as improved speech perception and sound source localization.



However, pre-existing neutralizing antibodies against AAV can prevent AAV vector-induced infection in target cells and tissues, resulting in immunotoxicity and limiting repeat delivery. The present study investigated whether AAV1-hOTOF binaural gene therapy is safe and effective in DFNB9 patients. The researchers assessed 316 volunteers for eligibility, of whom five pediatric individuals (three boys and two girls) had congenital hearing impairment in both ears resulting from biallelic OTOF gene mutations enrolled between July 14 and November 15, 2023.

Participants had OTOF gene mutations and auditory brainstem response (ABR) levels of ≥65 dB in both ears. Exclusion criteria include.

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