There are more than 7 000 rare diseases and approximately 475 million individuals with rare diseases globally, with children accounting for two-thirds of this population. Due to a relatively small patient population and limited financial resources allocated for drug research and development in pharmaceutical enterprises, there are still no drugs approved for the treatment of several thousands of these rare diseases. At present, there are no drugs for 95% of the patients with rare diseases, and consequently, the therapeutic drugs for rare diseases have been designated as orphan drugs. In order to guide pharmaceutical enterprises to strengthen the research and development of orphan drugs, various nations have enacted the acts for rare disease drugs, promoted and simplified the patent application process for orphan drugs, and provided scientific recommendations and guidance for the research and development of orphan drugs. Since there is a relatively high incidence rate of rare diseases in children, this article reviews the latest research on pharmacotherapy for children with rare diseases.
罕见病有7 000余种，全球罕见病患者总数约4.75亿，其中儿童占2/3。因每种罕见病的患病人群基数小，制药企业研发资金有限，仍有几千种罕见病还没有获得批准的治疗药物。目前，95%的罕见病患者尚无药可治，因此能够治疗罕见病的药物被称为孤儿药。为引导制药公司加大孤儿药开发力度，多国制定了罕见病药物法案，推进简化孤儿药专利申请程序，积极为孤儿药研发提供科学建议和指导。儿童是罕见病的高发群体，该文将围绕儿童罕见病药物治疗新进展进行综述。.
Keywords: Child; Enzyme replacement therapy; Gene therapy; Orphan drug production; Rare disease; Small-molecule drug.