中国儿童罕见病临床用药管理专家共识(2025版)OA

Rare diseases are characterized by low prevalence,diverse disease types,and significant challenges in diagnosis,which results in limited development of therapeutic drugs.Although China has implemented multiple policies to promote access to medications for rare diseases,there is still a lack of established consensus or clinical guidelines for medication management in pediatric rare diseases.This consensus clarifies the definition of rare diseases and provides recommendations on the following aspects:therapeutic medication process,management of off-label drug use,monitoring of drug use,hospital-level drug stocking,and the development of pharmaceutical service systems.It emphasizes that clinical pharmacists should participate in formulating drug therapy plans,rigorous assessments and documentation of off-label drug use must be conducted,and a database for monitoring adverse drug reactions associated with rare disease treatments should be established.Furthermore,it is suggested that healthcare institutions establish a designated list of essential drugs for rare diseases,implement temporary procurement mechanisms,strengthen pharmaceutical service frameworks,promote multidisciplinary collaboration,and enhance the overall quality of pharmaceutical care for pediatric patients with rare diseases.The formulation of this consensus is aimed to standardize the clinical medication management in pediatric rare diseases to ensure medication safety and safeguard the rights of pediatric patients,and to provide practical guidance for healthcare professionals in medical institutions.