Nov 26, 2020 · We review the broad phenotypic spectrum reported in patients with variants in OTOF that includes milder hearing loss, as well as progressive and temperature-sensitive …

We review the broad phenotypic spectrum reported in patients with variants in OTOF that includes milder hearing loss, as well as progressive and temperature-sensitive hearing loss. We …

Autosomal recessive deafness 9, also known as DFNB9, is a genetic condition that affects hearing. It is caused by mutations in the otoferlin (OTOF) gene. This condition has two main …

Mutations in OTOFERLIN (OTOF) lead to the autosomal recessive deafness 9 (DFNB9). The efficacy of adeno-associated virus (AAV)-mediated OTOF gene replacement therapy is …

Mar 5, 2019 · Adeno-associated virus (AAV)-based gene therapy is a promising therapeutic option, but is limited by a potentially short therapeutic window and the constrained packaging …

Jun 5, 2024 · For example, a type of deafness called autosomal recessive deafness 9 (DFNB9) is caused by biallelic mutations in the gene OTOF, which encodes otoferlin, a protein essential …

Jun 5, 2024 · Here we report an interim analysis of the single-arm trial investigating the safety and efficacy of binaural therapy in five pediatric patients with DFNB9.

Jan 8, 2024 · DFNB9 patients with OTOF gene mutations have severe to profound prelingual non-syndromic sensorineural hearing loss and account for 2–8% of all cases of congenital hearing …

May 25, 2024 · In this Article, we report the safety and efficacy of gene therapy with an adeno-associated virus (AAV) serotype 1 carrying a human OTOF transgene (AAV1-hOTOF) as a …

Jan 24, 2024 · Those in the current trial suffered a condition called DFNB9, resulting in total deafness due to a mutation in the OTOF gene. The gene encodes the otoferlin protein, …