作者
Xintai Fan,Ziwen Gao,Jiake Zhong,Yuxin Chen,Xiaoyun Chen,Lukas D. Landegger,Tobias Moser,Fan-Gang Zeng,Yu Sun,Xin Jin,Robert Nash,Wade W. Chien,Dan Jiang,John H. Greinwald,Manohar Bance,Manuel Manrique Rodríguez,Sang‐Yeon Lee,Guodong Feng,Haidi Yang,Chen‐Chi Wu
摘要
Background Hereditary hearing loss is one of the most common disabling disorders in children and lacks effective pharmacological treatments. Recent breakthroughs in OTOF gene therapy clinical trials necessitate standardized frameworks to guide emerging therapies. This study aims to establish the first international consensus on the clinical application of gene therapy for hereditary hearing loss. Methods A modified Delphi process was conducted from March 2024 to March 2025, involving 46 multidisciplinary experts from several countries across otology, genetics, audiology, gene therapy, and hearing rehabilitation. After a systematic literature review, as well as integration of research and clinical expertise and experience, three iterative voting rounds (two anonymous surveys and one online consensus meeting) were performed. Statements required ≥75% agreement for inclusion. Findings From 9,093 publications, 69 were used to draft and support the consensus statements. A total of 30 statements relevant to six domains achieved consensus on gene therapy for hereditary hearing loss, including ethical review (1 statement), patient selection criteria (12 statements), diagnosis and preoperative evaluation (9 statements), gene therapy drug delivery (4 statements), follow-up (3 statements), and post-treatment auditory and speech rehabilitation (1 statement). Conclusions This consensus provides the first globally endorsed framework for gene therapy in hereditary hearing loss. It standardizes clinical trial design and patient management, accelerating translation from research to practice while ensuring safety. The guidelines are immediately applicable to OTOF -related hearing loss and adaptable to other genetic forms. Funding This work was supported by the National Natural Science Foundation of China, the German Research Foundation (DFG) via the Cluster of Excellence, and others. • The first international expert consensus on gene therapy for hereditary hearing loss • A modified Delphi method was implemented in a 46-member multidisciplinary expert panel • Thirty evidence- and expertise-based statements across six key domains achieved consensus • Guide clinical trial design and patient management for gene therapy for hearing loss Hearing loss is a common sensory disorder in human beings, and there are no pharmacological treatments for hereditary hearing loss. Although recent gene therapy trials for congenital deafness have been successful, the field still lacks standardized guidelines. This study establishes the first international expert consensus on gene therapy for hereditary hearing loss. A multidisciplinary panel of 46 experts from several countries developed 30 statements addressing ethical review, patient selection, diagnosis and preoperative evaluation, drug delivery, follow-up, and rehabilitation. The consensus provides a critical framework for conducting safe and high-quality clinical trials, accelerating the translation from basic research to clinical practice and marking a significant step toward standardized and globally applicable guidelines for gene therapy of hearing loss. A multidisciplinary panel developed the first international expert consensus, including 30 evidence- and expertise-based statements on gene therapy for hereditary hearing loss using the modified Delphi method. The consensus standardizes clinical trial design and patient management, with immediate applicability to OTOF -related hearing loss and adaptability to other genetic forms.