神经系统罕见病的孤儿药治疗进展

Advances in orphan drugs for the treatment of rare nervous system diseases

摘要

罕见病是一类患病率低、病因不明、症状严重、治疗效果差的疾病。用于预防、治疗和诊断罕见病的药品常被称为孤儿药。因罕见病患病人数少和企业研发资金有限等问题，导致其药品种类稀缺，价格常年居高不下。但近年随着公众对罕见疾病的认识不断提高，激励性政策的出台及研究投入的增加，孤儿药的研发进展迅速，其中肿瘤、儿科和神经系统疾病的孤儿药所占比例明显增加。很多的罕见病都会累及神经和肌肉系统。因此，本文将围绕神经系统罕见疾病的治疗药物进行综述。

Abstract

Rare diseases are characterized by a low prevalence rate，unknown etiology，severe symptoms，and poor treatment outcomes. Orphan drugs are developed for the prevention，treatment，and diagnosis of these rare diseases. Due to the limited number of patients with rare diseases and the limited research funds in enterprises，these drugs are often scarce and expensive. However，with the improvement in the public awareness of rare diseases，the introduction of incentive policies，and the increase in research investments in recent years，rapid progress has been made in the research and development of orphan drugs，with a significant increase in the proportion of orphan drugs for the treatment of tumors，pediatric diseases，and nervous system diseases. Many rare diseases affect the nervous and muscular systems，and therefore，this article reviews the drugs for the treatment of rare nervous system diseases.

关键词

罕见病 / 孤儿药 / 神经系统

Key words

rare disease / orphan drugs / nervous system

基金资助

国家自然科学基金面上资助项目(82371416)

河北省自然科学基金资助项目(H2023206297)