遗传性耳聋基因治疗临床指南  

Clinical guidelines of gene therapy for hereditary deafness

作　　者：齐洁玉 谈方志 张李燕 陆玲 王洪阳[5,6,7,8,9] 李文妍[10,11,12,13] 刘闻闻 付小龙[16] 贺祖宏 丁小琼[18] 孙珊 方巧军 董耀东 朱学伟[22] 童步升 曹现宝 郭敏[25] 范欣淼[26] 汪芹[27] 马璐 张天虹[29] 于亚峰 李永新[31] 樊建刚 崔勇[33] 吴佩娜[33] 张宏征[34] 唐杰[34] 郭维维[5,6,7,8,9] 查定军[35] 叶放蕾[36] 何双八 曹卫[20] 杨见明 钱晓云 赵宇[38] 孙敬武[39] 陈晓巍[26] 孙宇[40] 夏明[41,42,43,44] 王秋菊[5,6,7,8,9] 袁慧军 冯永[46,47] 孔维佳[40] 杨仕明 王海波[14,15] 高下[4] 李华伟 徐磊 柴人杰 QI Jie-yu;TAN Fang-zhi;ZHANG Li-yan;LU Ling;WANG Hong-yang;LI Wen-yan;LIU Wen-wen;FU Xiao-long;HE Zu-hong;DING Xiao-qiong;SUN Shan;FANG Qiao-jun;DONG Yao-dong;ZHU Xue-wei;TONG Bu-sheng;CAO Xian-bao;GUO Min;FAN Xin-miao;WANG Qin;MA Lu;ZHANG Tian-hong;YU Ya-feng;Li Yong-xin;FAN Jian-gang;CUI Yong;WU Pei-na;ZHANG Hong-zheng;TANG Jie;GUO Wei-wei;ZHA Ding-jun;YE Fang-lei;HE Shuang-ba;CAO Wei;YANG Jian-ming;QIAN Xiao-yun;ZHAO Yu;SUN Jing-wu;CHEN Xiao-wei;SUN Yu;XIA Ming;WANG Qiu-ju;YUAN Hui-jun;FENG Yong;KONG Wei-jia;YANG Shi-ming;WANG Hai-bo;GAO Xia;LI Hua-wei;XU Lei;CHAI Ren-jie(State Key Laboratory of Digital Medical Engineering,Department of Otolaryngology Head and Neck Surgery,Zhongda Hospital,School of Life Sciences and Technology,School of Medicine,Advanced Institute for Life and Health,Jiangsu Province High-Tech Key Laboratory for Bio-Medical Research,Southeast University,Nanjing 210096,China;Co-Innovation Center of Neuroregeneration,Nantong University,Nantong 226001,China;Department of Neurology,Aerospace Center Hospital,School of Life Science,Beijing Institute of Technology,Beijing 100081,China;Department of Otolaryngology-Head and Neck Surgery,Drum Tower Hospital Affiliated to Medical School,Nanjing University,Jiangsu Provincial Key Medical Discipline(Laboratory),Nanjing 210008,China;Department of Otolaryngology Head and Neck Surgery,Chinese PLA General Hospital,Chinese PLA Medical School,Beijing 100853,China;State Key Laboratory of Hearing and Balance,Beijing 100853,China;National Clinical Research Center for Otolaryngologic Diseases,Beijing 100853,China;Key Laboratory of Hearing Science,Ministry of Education,Beijing 100853,China;Beijing Key Laboratory of Hearing Impairment Prevention and Treatment,Beijing 100853,China;Eye&ENT Hospital,State Key Laboratory of Medical Neurobiology,MOE Frontiers Center for Brain Science,Fudan University,Shanghai 200031,China;Institutes of Biomedical Sciences,Fudan University,Shanghai 200032,China;NHC Key Laboratory of Hearing Medicine,Fudan University,Shanghai 200031,China;Th

机构地区：[1]东南大学数字医学工程全国重点实验室,附属中大医院耳鼻咽喉头颈外科,生命科学与技术学院,生命与健康高等研究院,江苏省生物医学高新技术研究重点实验室,江苏南京210096 [2]南通大学神经再生联合创新中心,江苏南通226001 [3]北京理工大学航天中心医院神经内科,生命学院,北京10081 [4]南京大学医学院附属鼓楼医院耳鼻喉头颈外科,江苏省医学重点学科(实验室),江苏南京210008 [5]中国人民解放军总医院耳鼻咽喉头颈外科医学部,北京100853 [6]听觉与平衡觉全国重点实验室,北京100853 [7]国家耳鼻咽喉疾病临床医学研究中心,北京100853 [8]聋病教育部重点实验室,北京100853 [9]聋病防治北京市重点实验室,北京100853 [10]复旦大学附属眼耳鼻喉科医院,医学神经生物学国家重点实验室,教育部脑科学前沿研究中心,上海200031 [11]复旦大学生物医学研究所,上海200032 [12]国家卫健委听觉医学重点实验室,上海200031 [13]复旦大学脑科学研究院和脑科学协同创新中心,上海200032 [14]山东大学山东省耳鼻喉医院耳鼻咽喉头颈外科,山东济南250022 [15]山东省耳鼻喉研究所,山东济南250022 [16]山东第一医科大学/山东省医学科学院医学科技创新中心,山东济南250000 [17]武汉大学中南医院耳鼻咽喉头颈外科,湖北武汉430071 [18]东南大学附属中大医院耳鼻咽喉头颈外科,江苏南京210009 [19]复旦大学附属眼耳鼻喉科医院耳鼻喉科,上海200032 [20]安徽医科大学第二附属医院耳鼻咽喉头颈外科,安徽合肥230601 [21]中国医科大学附属盛京医院耳鼻咽喉头颈外科,辽宁沈阳110004 [22]吉林大学中日联谊医院耳鼻咽喉头颈外科,吉林长春130033 [23]安徽医科大学第一附属医院耳鼻咽喉头颈外科,安徽合肥230022 [24]云南省第一人民医院耳鼻喉科,云南昆明650032 [25]昆明医科大学第一附属医院耳鼻喉科,云南昆明650032 [26]中国

出　　处：《实用医院临床杂志》2024年第2期39-44,共6页Practical Journal of Clinical Medicine

基　　金：国家重点研发计划(编号:2021YFA1101300,2021YFA1101800,2020YFA0113600,2020YFA0112503);国家自然科学基金重点项目、重大研究计划、面上项目(编号:82330033,82030029,92149304,82000984,82371162,82371161,82071059,92168115);江苏省自然科学基金基础研究计划(编号:BK20232007);江苏省社会发展项目-临床前沿技术项目(编号:BE2023653);四川省科技厅科技计划重点研发项目(编号:2021YFS0371);深圳市科技计划(编号:JCYJ20190814093401920,JCYJ20210324125608022);广东省医学科学院2022年度开放课题基金项目(编号:YKY-KF202201);南京市医学科技发展项目(编号:YKK19072)。

摘　　要：遗传性耳聋是一种常见的遗传性疾病,新生儿的发病率为1‰~3‰。患者终身携带致病突变,导致不可逆性耳聋,至今尚无临床可用的治疗药物。在部分遗传性耳聋动物模型中,基因治疗已被证实为潜在有效的治疗方法。国内外已开展了多项遗传性耳聋基因治疗的临床试验。其中,由东南大学附属中大医院牵头,联合国内多家医院成功开展的遗传性耳聋基因治疗临床试验,取得了显著的疗效,并积累了丰富的经验。为规范遗传性耳聋基因治疗并提供临床研究指导,全国多家医院的耳科专家讨论制定了遗传性耳聋基因治疗临床指南,内容涵盖了伦理审查、遗传性耳聋的诊断和入组标准、临床前准备、药物、疗效与安全性评估标准、术后言语康复等。本指南将为耳聋基因治疗的临床诊疗提供规范的理论和技术指导。The incidence of the disease in newborns is 1‰to 3‰.Patients carry the disease-causing mutations throughout their lives,leading to irreversible deafness.There is no clinically available drug.In some animal models of several inherited deafness,gene therapy is a potentially effective treatment.Serial clinical trials of gene therapy for hereditary deafness have been carried out in the domestic and overseas.Among them,the clinical trials of genetic therapy for hereditary deafness,led by the Affiliated Zhongda Hospital of Southeast University and in collaboration with multiple domestic hospitals,have achieved significant therapeutic effects and accumulated rich experience.In order to standardize genetic deafness gene therapy and provide clinical research guidance,otologic experts from nationwide hospitals have discussed and formulated clinical guidelines for gene therapy on inherited deafness.The contents cover the ethics,diagnosis and enrollment criteria for genetic deafness,clinical preparation,drug administration,efficacy and safety evaluation criteria,and postoperative speech rehabilitation.This guideline will provide standardized theoretical and technical criteria for the clinical gene therapy for the deafness.

关 键 词：遗传性耳聋 基因治疗 临床指南 

分 类 号：R764[医药卫生—耳鼻咽喉科]