Gene therapy for recessive dystrophic epidermolysis bullosa

VernacularTitle:隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展
Author: Yingqiu BAO ¹ ; Yanjun ZHANG ; Bo LI ; Jing GONG ; Yu FU ; Zhe XU
Author Information

1. 北京医院皮肤科　国家老年医学中心　中国医学科学院老年医学研究院，北京　100730
Keywords: Epidermolysis bullosa; Gene therapy; Collagen type Ⅶ; Fibroblasts; Keratinocytes
From: Chinese Journal of Dermatology 2022;55(8):739-743
CountryChina
Language:Chinese
Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is caused by loss-of-function mutations in the COL7A1 gene encoding the α-1 chain of type Ⅶ collagen, leading to reduced or absent expression of basement membrane type Ⅶ collagen (C7) . Currently, there is no effective treatment for this rare disease, and the management is mainly palliative and supportive. Gene therapy is expected to be an effective treatment of RDEB. This review summarizes current strategies of gene therapy in clinical trials for RDEB, as well as their progress, pros and cons, and prospects.