罕见病治疗药物研发进展与先进疗法的应用前景

Research progress in therapeutic drugs for rare diseases and application prospects of advanced therapies

摘要

罕见病通常表现为患病率低、种类繁多且病情严重,大多数与基因突变密切相关。随着生物技术和人工智能的迅速发展,基因治疗、细胞治疗等先进疗法为罕见病药物的研发带来了新的突破。本文从适应证和治疗方式2个维度对2024—2025年美国FDA下属生物制品评价与研究中心批准的15款孤儿药进行了系统梳理,重点阐述CRISPR-Cas9基因编辑技术、类器官模型等先进疗法在罕见病药物研发领域的应用、面临的挑战以及未来发展趋势,并探讨我国在罕见病药物研发领域的现状。

Abstract

Rare diseases are typically characterized by low prevalence, a wide variety, and severe conditions, most closely related to gene mutations. With the rapid development of biotechnology and artificial intelligence, advanced therapies such as gene therapy and cell therapy have brought new breakthroughs in the research and development of drugs for rare diseases. This article systematically reviews 15 orphan drugs approved by the CBER under the FDA in 2024—2025 from two dimensions: indications and treatment modalities, with a focus on the application, challenges, and future trends of advanced therapies such as CRISPR-Cas9 gene editing technology and organoid models in the field of rare disease drug development. Additionally, the current status of China's rare disease drug research and development is discussed.

关键词

罕见病 / 孤儿药 / 基因编辑 / 类器官 / 腺相关病毒 / 寡核苷酸 / 人工智能

Key words

rare disease / orphan drug / gene editing / organoid / adeno-associated virus / oligonucleotide / artificial intelligence

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基金资助

中国工程院咨询项目“‘十五五’时期我国生物医药发展的前沿技术突破和战略工程布局研究”(2025-JZ-09)