EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria.
J Dermatolog Treat. 2024 Dec;35(1):2391452. doi: 10.1080/09546634.2024.2391452. Epub 2024 Aug 18.
Epidermolysis bullosa (EB) is a clinically-heterogeneous genodermatosis with severe manifestations in the skin and other organs. The significant burden this condition places on patients justifies the development of gene therapeutic strategies targeting the genetic cause of the disease. Emerging RNA and DNA editing tools have shown remarkable advances in efficiency and safety. Applicable both in - and settings, these gene therapeutics based on gene replacement or editing are either at the pre-clinical or clinical stage. The recent landmark FDA approvals for gene editing based on CRISPR/Cas9, along with the first FDA-approved redosable gene replacement therapy for EB, will invigorate ongoing research efforts, increasing the likelihood of achieving local cure via CRISPR-based technologies in the near future. This review discusses the status quo of current gene therapeutics that act at the level of RNA or DNA, all with the common aim of improving the quality of life for EB patients.
大疱性表皮松解症（EB）是一种临床异质性的遗传性皮肤病，其皮肤和其他器官的表现严重。这种疾病给患者带来了巨大的负担，这也证明了开发针对疾病遗传原因的基因治疗策略是合理的。新兴的 RNA 和 DNA 编辑工具在效率和安全性方面取得了显著进展。这些基于基因替换或编辑的基因治疗方法可应用于体内和体外环境，目前处于临床前或临床阶段。最近 FDA 批准了基于 CRISPR/Cas9 的基因编辑，以及首个 FDA 批准的可重复使用的 EB 基因替换治疗方法，这将激发正在进行的研究工作，增加通过基于 CRISPR 的技术在不久的将来实现局部治愈的可能性。本文讨论了目前在 RNA 或 DNA 水平起作用的基因治疗的现状，所有这些治疗方法都旨在提高 EB 患者的生活质量。
