Expert consensus for off-label drug use of rare disease: a protocol

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Author: CHEN Chaoyang ¹ DUAN Yuehan ^2, ³ ZHUO Lin ^3, ⁴ HE Guohua ⁵ ZHANG Yanqin ⁶ ZHOU Ying ^1, ⁷  WANG Shengfeng ^2, ³  CUI Yimin ⁸  DING Jie ⁶

Affiliation: 1. Department of Pharmacy, Peking University First Hospital, Beijing 100034, China 2. Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China 3. Key Laboratory of Epidemiology of Major Diseases (Peking University), Ministry of Education, Beijing 100191, China 4. Research Center of Clinical Epidemiology, Peking University Third Hospital, Beijing 100191, China 5. Department of Pediatric, The First Affiliated Hospital, Sun Yat‐sen University, Guangzhou 510080, China 6. Children's Medical Center, Peking University First Hospital, Beijing 100034, China 7. Drug Clinical Trial institution, Peking University First Hospital, Beijing 100034, China 8. Institute of Clinical Pharmacology, Peking University First Hospital, Beijing 100191, China

Keywords: Rare disease Off-label use Expert consensus Study protocol

DOI: 10.12173/j.issn.1005-0698.202503180

Reference: CHEN Chaoyang, DUAN Yuehan, ZHUO Lin, HE Guohua, ZHANG Yanqin, ZHOU Ying, WANG Shengfeng, CUI Yimin, DING Jie. Expert consensus for off-label drug use of rare disease: a protocol[J]. Yaowu Liuxingbingxue Zazhi, 2025, 34(9): 1066-1073. DOI: 10.12173/j.issn.1005-0698.202503180.[Article in Chinese]  Copied

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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 off-label 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.

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References

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