Current Status and Prospects of Gene Therapy for Primary Ciliary Dyskinesia

Wanqing LU; Yixuan LI; Miao HE; Xinlun TIAN; Yaping LIU

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Current Status and Prospects of Gene Therapy for Primary Ciliary Dyskinesia

VernacularTitle:原发性纤毛运动障碍基因治疗的现状和展望
Author: Wanqing LU ¹ ; Yixuan LI ¹ ; Miao HE ² ; Xinlun TIAN ³ ; Yaping LIU ¹
Author Information

1. Center for Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
2. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100005, China;.
3. Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
Publication Type:Review
Keywords: primary ciliary dyskinesia; gene replacement therapy; gene editing therapy; RNA therapy
From: JOURNAL OF RARE DISEASES 2025;4(3):377-383
CountryChina
Language:Chinese
Abstract:
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease characterized by structural or functional abnormalities of motile cilia. It often presents clinically with recurrent respiratory infections, situs inversus, hydrocephalus, and infertility. Currently, there is no clinical treatment to directly restore ciliary motility in PCD patients.In recent years, researchers have explored gene therapy methods such as gene replacement, gene editing, and RNA replacement in vitro and in mouse models, offering potential new strategies for PCD treatment. This paper comprehensively reviews the current status of PCD gene therapy research, evaluates the potential of different gene therapies, and provides an outlook on the future treatment directions for this disease.