遗传性耳聋基因治疗专家共识(2023,上海)  

Expert consensus on gene therapy for hereditary hearing loss(2023,Shanghai)

作　　者：舒易来 范新泰 高子雯 王大奇 程晓婷 吕俊 胡纯纯 徐秀 周旭娇 郭荦 马竞 张剑宁[6] 陶永 孙珊 杨美琴 胡炯炯[9] 蔡宇伽 李大力[11] 李耕林 杨军[12] 戴春富 张天宇 洪佳旭 马兆鑫[9] 黄新生[13] 向明亮 时海波 陈兵 王武庆 陈正一[16] 殷善开[15] 吴皓[7] 王正敏 李华伟 SHU Yilai;FAN Xintai;GAO Ziwen;WANG Daqi;CHENG Xiaoting;LYU Jun;HU Chunchun;XU Xiu;ZHOU Xujiao;GUO Luo;MA Jing;ZHANG Jianning;TAO Yong;SUN Shan;YANG Meiqin;HU Jiongjiong;CAI Yujia;LI Dali;LI Genglin;YANG Jun;DAI Chunfu;ZHANG Tianyu;HONG Jiaxu;MA Zhaoxin;HUANG Xinsheng;XIANG Mingliang;SHI Haibo;CHEN Bing;WANG Wuqing;CHEN Zhengyi;YIN Shankai;WU Hao;WANG Zhengmin;LI Huawei(Department of Otolaryngology,Eye&ENT Hospital of Fudan University,NHC Key Laboratory of Hearing Medicine(Fudan University),Shanghai 200031,China;Children Halth Care Department,Children’s Hospital of Fudan University,Shanghai 201102,China;Department of Ophthalmology,Eye&ENT Hospital of Fudan University,Shanghai 200031,China;Diagnosis and Treatment Center of Genetic Hearing Loss,Eye&ENT Hospital of Fudan University,Shanghai 200031,China;Department of Facial Plastic and Reconstructive Surgery,Eye&ENT Hospital of Fudan University,Shanghai 200031,China;Department of Otolaryngology,Yueyang Hospital of Integrated Traditional Chinese and Western Medicine of Shanghai University of Traditional Chinese Medicine,Shanghai 200437,China;Department of Otolaryngology&Head and Neck Surgery,Shanghai Ninth People’s Hospital of Shanghai Jiao Tong University School of Medicine,Shanghai 200011,China;Editorial Department of Chinese Journal of Ophthalmology and Otorhinolaryngology,Eye&ENT Hospital of Fudan University,Shanghai 200031,China;Department of Otorhinolaryngology,the Affiliated East Hospital of Tongji University,Shanghai 200120,China;Shanghai Center for Systems Biomedicine,Shanghai Jiao Tong University,Shanghai 200240,China;School of Life Scienses of East China Normal University,Shanghai 200241,China;Department of Otorhinolaryngology&Head and Neck Surgery,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Otorhinolaryngology&Head and Neck Surgery,Zhongshan Hospital of Fudan University,Shanghai 200032,China;Department of Otorhinolaryngology,Ruijin Hospital of Shanghai Jiao Tong University School of Medicine,Sha

机构地区：[1]复旦大学附属眼耳鼻喉科医院耳鼻喉科国家卫生健康委员会听觉医学重点实验室(复旦大学),上海200031 [2]复旦大学附属儿科医院儿童保健科,上海201102 [3]复旦大学附属眼耳鼻喉科医院眼科,上海200031 [4]复旦大学附属眼耳鼻喉科医院遗传性耳聋诊治中心,上海200031 [5]复旦大学附属眼耳鼻喉科医院眼耳鼻整形外科,上海200031 [6]上海中医药大学附属岳阳中西医结合医院耳鼻喉科,上海200437 [7]上海交通大学医学院附属第九人民医院耳鼻咽喉头颈外科,上海200011 [8]复旦大学附属眼耳鼻喉科医院《中国眼耳鼻喉科杂志》编辑部,上海200031 [9]同济大学附属东方医院耳鼻咽喉科,上海200120 [10]上海交通大学系统生物医学研究院,上海200240 [11]华东师范大学生命科学学院,上海200241 [12]上海交通大学医学院附属新华医院耳鼻咽喉头颈外科,上海200092 [13]复旦大学附属中山医院耳鼻咽喉头颈外科,上海200032 [14]上海交通大学医学院附属瑞金医院耳鼻咽喉科,上海200025 [15]上海交通大学医学院附属第六人民医院耳鼻咽喉头颈外科,上海200233 [16]哈佛大学医学院麻省眼耳医院耳鼻咽喉头颈外科,波士顿02114

出　　处：《中国眼耳鼻喉科杂志》2024年第1期1-5,11,共6页Chinese Journal of Ophthalmology and Otorhinolaryngology

基　　金：国家杰出青年科学基金项目(82225014);国家重点研发计划合成生物学重点专项(2020YFA0908201);国家自然科学基金面上项目(82171148);上海市2021年度“科技创新行动计划”生物医药科技支撑专项(21S11905100)。

摘　　要：遗传性耳聋是常见的致残性疾病之一,临床尚无有效治疗药物。近年,基因治疗在临床前遗传性耳聋动物模型中获得显著疗效,推动了多项耳聋基因治疗临床试验的启动和开展。然而,目前尚无针对耳聋基因治疗的相关规范或共识。复旦大学附属眼耳鼻喉科医院作为国际首个成功开展遗传性耳聋基因治疗临床试验的单位,积累了一定经验。基于此,并参考其他疾病基因治疗共识,联合上海市多家单位的耳科学、听力学、遗传学、基因治疗及康复学等专家,在适用人群选择、围手术期准备、基因治疗药物注射及其安全性和有效性评估、治疗后康复等方面制订本共识,为相关从业人员提供参考和依据,以规范遗传性耳聋基因治疗的临床开展。Hereditary hearing loss is one of the common disabling diseases.Up to now,there are no available drugs for clinical therapy.Recently,gene therapy has achieved an obvious therapeutic effect in animal models with hereditary hearing loss,promoting the initiation and development of several clinical trials of gene therapy for hearing loss.However,there is currently no relevant standard or consensus on gene therapy for hearing loss.Eye&ENT Hospital of Fudan University has first successfully carried out clinical trials of gene therapy for hereditary hearing loss in the world,accumulating a certain amount of experience.On this basis,with reference to the consensus on gene therapy for other diseases,we cooperated with experts in otology,audiology,genetics,gene therapy,and rehabilitation,etc.,in Shanghai,and conducted this consensus on the applicable population,perioperative preparation,drug delivery of gene therapy,safety and effectiveness evaluation,and post-treatment rehabilitation,etc,providing reference and basis for relevant practitioners,standardizing the clinical treatment of gene therapy for hereditary hearing loss.

关 键 词：遗传性耳聋 基因治疗 专家共识 

分 类 号：R764[医药卫生—耳鼻咽喉科]