【摘要】 罕见病是患病率和发病率极低的一类疾病的统称。截至目前，我国先后公布了两批罕见病目录，共收录207种罕见病。鉴于大多数罕见病没有明确对应适应证的药品，医师在治疗罕见病患者时依赖超说明书药品的使用，但目前尚未有系统性针对我国罕见病诊疗的超说明书用药指南或专家共识。为规范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、北京药学会以及北京大学公共卫生学院联合发起《罕见病超说明书用药专家共识》，参照《世界卫生组织指南制订手册》、《中国制订/修订临床诊疗指南的指导原则（2022版）》、指南研究与评价工具Ⅱ（AGREEⅡ）以及指南科学性、透明性和适用性的评级工具（STAR）等要求制订。该计划书主要报告共识制订的背景、目的、适用范围，以及项目组的组成、临床问题和结局指标的确定、证据检索和筛选、数据提取以及推荐意见的形成等完整流程和方法。更多还原

【Abstract】 Rare diseases are a collective term for diseases with extremely low prevalence and incidence rates. Up to now, China has released two lists identifying a total of 207 rare diseases. Given that most rare diseases do not have drugs with corresponding indications, physicians frequently resort to using offlabel drugs when treating patients with rare diseases. However, there is currently no systematic guideline or expert consensus for the use of off-label medications in China. To comprehensively collect existing evidence of off-label drug use for rare diseases, fully analyze and evaluate the rationality of off-label drug use for rare diseases, and standardize the management of off-label drug use for rare diseases, the Rare Disease Branch of Beijing Medical Association, Chinese Pharmaceutical Association, Beijing Pharmaceutical Association, and the School of Public Health, Peking University have jointly initiated the drafting of the Expert Consensus on Off-label Use of Drugs for Rare Diseases. This consensus refer to the WHO Handbook for Guideline Development, the Guidelines for Developing/Revising Clinical Diagnostic and Treatment Guidelines in China(2022 Edition), the AGREE II and the STAR tools. This protocol outlines the background and purpose of consensus, as well as the comprehensive framework for consensus development, encompassing panel formation, clinical issue identification, evidence retrieval, data extraction, and evidence-based recommendation formulation.更多还原