OTOF基因的致病性突变导致了OTOF蛋白的缺乏或功能失调,从而引发常染色体隐性耳聋9型(DFNB9)。DFNB9的特征是先天性或语言前期的严重到完全的双侧听力损失,占遗传性耳聋的2-8%。 通过双AAV载体携带人类OTOF基因的AAV1-hOTOF在Otof−...
再生医学网获悉,近日,复旦大学附属眼耳鼻喉科医院舒易来教授、李华伟教授、王武庆教授,联合哈佛大学医学院陈正一教授在Nature Medicine上报告了双耳AAV1-hOTOF基因治疗DFNB9患儿的安全性和有效性。 听觉与视觉是人类探索世界的主要途径,通过聆听万籁之声,能够帮助我们更加清晰与全面地认知世界。不过,对于先天性耳聋患者来...
OTOF基因的致病性突变导致了OTOF蛋白的缺乏或功能失调,从而引发常染色体隐性耳聋9型(DFNB9)。DFNB9的特征是先天性或语言前期的严重到完全的双侧听力损失,占遗传性耳聋的2-8%。 通过双AAV载体携带人类OTOF基因的AAV1-hOTOF在Otof−/−小鼠和非人灵长类动物中已被证明是有效且安全的。目前,试验已显示,基因治疗...
Methods: This single-arm, single-centre trial enrolled children (aged 1-18 years) with severe-to-complete hearing loss and confirmed mutations in both alleles of OTOF, and without bilateral cochlear implants. A single injection of AAV1-hOTOF was administered into the cochlea through the round...
AAV1-hOTOF基因载体通过耳蜗窗口(round window)注射到患者的双侧耳蜗中,旨在恢复听觉功能。研究共纳入五名患有DFNB9的儿童患者,平均年龄为2.8岁。研究的主要终点是评估治疗6周内的剂量限制毒性,次要终点包括安全性(不良事件)和有效性(听觉功能和言语感知)。
首次使耳聋患者的听力恢复 | 常染色体隐性耳聋9是由OTOF基因突变引起的,其特征是先天性或语前,严重到完全的双侧听力损失。然而,目前还没有药物治疗先天性耳聋。该研究报道了携带人类OTOF基因(AAV1-hOTOF)的1型腺相关病毒(AAV)基因治疗儿童常染色体隐性耳聋的安全性和有效性(国际首个先天性耳聋基因治疗临床试验)。
·0 kHz. In the participant who received the 9 × 1011vg dose, the average ABR threshold was improved from greater than 95 dB at baseline to 68 dB at 4 weeks, 53 dB at 13 weeks, and 45 dB at 26 weeks. In those who received 1·5 × 1012AAV1-hOTOF, the average ABR...
AAV1-GFP transduced 60%–94% of the inner hair cells along the cochlear turns. AAV1-GFP was detected in isolated organs and no significant adverse effects were detected. These results suggest that AAV1-hOTOF is well tolerated and effective in animals, providing critical support for its ...
Methods This single-arm, single-centre trial enrolled children (aged 1–18 years) with severe-to-complete hearing loss and confirmed mutations in both alleles of OTOF , and without bilateral cochlear implants . A single injection of AAV1-hOTOF was administered into the cochlea through the ...
③The Lancet:AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial基于腺相关病毒(AAV)的AAV1-hOTOF用于常染色体隐性遗传性耳聋9型(DFNB9)的一项单臂试验DOI: 10.1016/S0140-6736(23)02874-X④JAMA:Protein Score May Reclassify Death Risk in Patients With Heart Failure蛋白质...