Chinese Journal of Dermatology ›› 2022, Vol. 55 ›› Issue (8): 739-743.doi: 10.35541/cjd.20210499

• Reviews • Previous Articles    

Gene therapy for recessive dystrophic epidermolysis bullosa

Bao Yingqiu1, Zhang Yanjun2, Li Bo1, Gong Jing3, Fu Yu1, Xu Zhe4   

  1. 1Department of Dermatology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China; 2Genmedicn Biopharma Inc., Beijing 100176, China; 3Department of Dermatology, Outpatient Department, Karamay Central Hospital of Xinjiang, Karamay 834000, Xinjiang, China; 4Department of Dermatology, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China
  • Received:2021-07-04 Revised:2021-10-12 Online:2022-08-15 Published:2022-08-02
  • Contact: Fu Yu; Xu Zhe;
  • Supported by:
    Beijing Municipal Natural Science Foundation (7202177); The Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority (XTZD20180502)

Abstract: 【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.

Key words: Epidermolysis bullosa, Gene therapy, Collagen type Ⅶ, Fibroblasts, Keratinocytes