Treatment of Epidermolysis Bullosa and Future Directions: A Review.

IF 3.5 3区医学 Q1 DERMATOLOGY Dermatology and Therapy Pub Date : 2024-08-01 Epub Date: 2024-08-02 DOI:10.1007/s13555-024-01227-8

Sorina Danescu, Mircea Negrutiu, Cristina Has

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Abstract

Epidermolysis bullosa (EB) comprises rare genetic disorders characterized by skin and mucosal membrane blistering induced by mechanical trauma. Molecularly, pathogenic variants affect genes encoding proteins crucial for epidermal-dermal adhesion and stability. Management of severe EB is multidisciplinary, focusing on wound healing support, ensuring that patients thrive, and complication treatment. Despite extensive research over 30 years, novel therapeutic approaches face challenges. Gene therapy and protein therapy struggle with efficacy, while regenerative cell-based therapies show limited effects. Drug repurposing to target various pathogenic mechanisms has gained attention, as has in vivo gene therapy with drugs for dystrophic and junctional EB that were recently approved by the US Food and Drug Administration (FDA) and European Medicines Agency (EMA). However, their high cost limits global accessibility. This review examines therapeutic advancements made over the past 5 years, exploiting a systematic literature review and clinical trial data.

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大疱性表皮松解症的治疗和未来方向：综述。

大疱性表皮松解症（EB）是一种罕见的遗传性疾病，其特征是机械性创伤诱发皮肤和粘膜大疱。从分子上讲，致病变体会影响编码表皮-真皮粘附性和稳定性关键蛋白的基因。严重 EB 的治疗涉及多个学科，重点是支持伤口愈合、确保患者茁壮成长以及并发症治疗。尽管经过 30 多年的广泛研究，新型治疗方法仍面临挑战。基因疗法和蛋白质疗法疗效不佳，而基于细胞的再生疗法效果有限。针对各种致病机制的药物再利用已受到关注，最近美国食品药品管理局（FDA）和欧洲药品管理局（EMA）批准了针对萎缩性和交界性 EB 的体内基因疗法。然而，这些药物的高昂成本限制了全球范围内的使用。本综述利用系统性文献综述和临床试验数据，对过去 5 年中取得的治疗进展进行了研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Dermatology and Therapy Medicine-Dermatology

CiteScore

6.00

自引率

8.80%

发文量

187

审稿时长

6 weeks

期刊介绍： Dermatology and Therapy is an international, open access, peer-reviewed, rapid publication journal (peer review in 2 weeks, published 3–4 weeks from acceptance). The journal is dedicated to the publication of high-quality clinical (all phases), observational, real-world, and health outcomes research around the discovery, development, and use of dermatological therapies. Studies relating to diagnosis, pharmacoeconomics, public health and epidemiology, quality of life, and patient care, management, and education are also encouraged. Areas of focus include, but are not limited to all clinical aspects of dermatology, such as skin pharmacology; skin development and aging; prevention, diagnosis, and management of skin disorders and melanomas; research into dermal structures and pathology; and all areas of aesthetic dermatology, including skin maintenance, dermatological surgery, and lasers. The journal is of interest to a broad audience of pharmaceutical and healthcare professionals and publishes original research, reviews, case reports/case series, trial protocols, and short communications. Dermatology and Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an International and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of quality research, which may be considered of insufficient interest by other journals. The journal appeals to a global audience and receives submissions from all over the world.