【摘要】 罕见病是发病率或患病率低的一大类疾病的统称。因多数罕见病缺乏获批适应证药品，超说明书用药成为临床重要治疗选择。为规范我国罕见病超说明书用药的管理，北京医学会罕见病分会、中国药学会医院药学专业委员会、中国药理学会临床药理专业委员会、全国罕见病学术团体主委联席会以及北京大学公共卫生学院联合发起制订《罕见病超说明书用药专家共识（2026版）》。系统检索国家两批罕见病目录中207种罕见病的相关指南、临床建议或专家共识，经两轮筛选与专家复核后纳入1 870篇文献，提取疾病-药品/药品类别组合5 497条。通过查询国家药品监督管理局官网及中文药品说明书，判定超说明书的疾病-药品组合4 559条，覆盖157种罕见病，涉及1 050个药品。系统检索相关随机对照试验及其系统综述/Meta分析证据，参考经适应性改进的Thomson证据分级系统进行证据评级。经同专业、跨专业专家组以及外审组多轮专家评审，每条超说明书用药的疾病-药品组合获得全部专家一致推荐视为最终达成共识。最终推荐超说明书的疾病-药品组合770条，覆盖两批罕见病目录中的121种罕见病，其中证据级别为一至四类的疾病-药品/药品类别组合分别有91(11.82%)、51(6.62%)、53(6.88%)和575(74.68%)条。该共识可为罕见病临床实践、药品监管及医疗保障政策制定提供重要循证依据。更多还原

【Abstract】 Rare diseases refer to a collective term for diseases with extremely low prevalence and incidence rates. Due to the lack of approved drugs for most rare diseases, off-label drug use has become an important clinical treatment option. To standardize the management of off-label drug use for rare diseases in China, the Rare Diseases Branch of Beijing Medical Association, the Hospital Pharmacy Professional Committee of the Chinese Pharmaceutical Association, the Clinical Pharmacology Professional Committee of the Chinese Pharmacological Society, the National Joint Meeting of Rare Disease Academic Organizations, and the School of Public Health, Peking University jointly initiated the development of this expert consensus on off-label drug use for rare diseases(2026 edition). A systematic retrieval was conducted on guidelines, clinical recommendations, expert consensuses, and other relevant documents related to the 207 rare diseases included in the two batches of the national rare disease catalogue. A total of 1,870 articles were included after two rounds of screening and expert verification, and 5,497 disease-drug combinations were extracted. Through verification against the National Medical Products Administration official website and Chinese drug package inserts, 4,559 disease-drug combinations were identified as off-label use through verification, covering 157 rare diseases and 1,050 drugs. Randomized controlled trials and systematic reviews/Meta-analysis were searched, and the adapted Thomson evidence grading system for evidence rating were adopted. After multiple rounds of review by the same-specialty, cross-specialty, and external review groups, each disease-drug combination beyond the instructions is recommended by all experts and considered as the final consensus. Finally, 770 off-label disease-drug combinations were recommended, covering 121 rare diseases in the two batches of the national rare disease catalogue. Among them, 91(11.82%), 51(6.62%), 53(6.88%), and 575(74.68%) disease-drug/drug category combinations were supported by Grade A, B1, B2, and C evidence, respectively. This consensus can provide an important evidence-based basis for rare disease clinical practice, drug regulation, and medical insurance policy formulation.更多还原