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Advances and challenges in gene therapy for dystrophic epidermolysis bullosa: Insights from therapeutic strategies and animal models

Xianqing Wang1,2 ,  Josie Ward2 ,  Wei He1 ,  Wenxin Wang2* ,  Ming Li1*
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1 Department of Dermatology, Children’s Hospital of Fudan University, National Children’s Medical Center, Shanghai, China
2 Charles Institute of Dermatology, School of Medicine, University College Dubin, Dublin, Ireland
GPD 2024, 3(3), 4047 https://doi.org/10.36922/gpd.4047
Submitted: 25 June 2024 | Accepted: 13 August 2024 | Published: 26 September 2024
© 2024 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Dystrophic epidermolysis bullosa (DEB) is a severe monogenic skin disorder resulting from mutations in the COL7A1 gene, which disrupts the synthesis of type VII collagen. This leads to impaired anchoring fibrils and results in dermoepidermal separation. The clinical manifestation of DEB varies significantly, ranging from localized blistering in milder forms to extensive blistering with subsequent severe complications such as vision loss and squamous cell carcinoma in more severe cases. Despite the recent approval of the first gene replacement therapy by the U.S. Food and Drug Administration, the majority of DEB patients still depend on palliative care, an indication of the continued unmet therapeutic needs. In the past two decades, there has been a rapid advancement of gene therapy techniques, extensive research efforts, and pre-clinical studies focusing on the correction of DNA, RNA, and protein defects specific to DEB. In this review, we provide a comprehensive update on the current state of gene engineering strategies for DEB, including gene replacement, pre-mRNA regulatory therapies, and gene editing techniques. In addition, this review critically evaluates the role and development of animal models in DEB research, which are crucial for the progression of therapeutic strategies. Our discussion aims to delineate the existing challenges and emphasize ongoing advancements in the gene therapy landscape for DEB, providing insights that may guide future research and clinical approaches.

Keywords
: Epidermolysis bullosa
Dystrophic epidermolysis bullosa
Gene therapy
Animal models
COL7A1
Type VII collagen
Funding
This work was supported by the Chinese Government – China Scholarship Council (CSC202008300001), and Science Foundation Ireland (SFI) Frontiers for the Future 2019 call (19/FFP/6522).
Conflict of interest
The authors declare that they have no competing interests.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing
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