表皮松解症和鱼鳞病的基因和细胞疗法亮点。

IF 3.5 3区 医学 Q1 DERMATOLOGY Dermatology and Therapy Pub Date : 2024-09-01 Epub Date: 2024-08-07 DOI:10.1007/s13555-024-01239-4
Stefanos A Koutsoukos, Ganna Bilousova
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引用次数: 0

摘要

随着表皮松解症(EB)和鱼鳞病这两种罕见遗传性皮肤病的分子遗传学研究取得进展,人们得以确定导致这些疾病的基因变异。随着遗传医学技术的进步,这些罕见皮肤病的致病变异体的鉴定也促进了用于治疗这些疾病的各种体内和体外基因和细胞疗法的临床前研究和临床开发。基因和细胞疗法被认为是最先进的个性化医疗形式,在众多罕见疾病中显示出安全性和有效性。尽管 "孤儿药 "开发热潮已使多种基因和细胞疗法获得监管部门批准,用于治疗各种罕见疾病,但这些方法在罕见遗传性皮肤病中的应用仍然有限。不过,体内基因疗法和体外细胞疗法在治疗EB和鱼鳞病方面都有成功的例子。本综述重点介绍了针对这两种毁灭性先天性皮肤病多种亚型的基因和细胞疗法的临床前研究和临床开发,包括美国食品药品管理局最近批准用于治疗隐性营养不良性EB的基因疗法。
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Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis.

Advancements in the molecular genetics of epidermolysis bullosa (EB) and ichthyosis, two rare inherited skin conditions, have enabled the identification of genetic variants that cause these diseases. Alongside technological advancements in genetic medicine, the identification of variants causal of these rare skin conditions has led to preclinical research and the clinical development of various in vivo and ex vivo gene and cell therapies for their treatment. Gene and cell therapies are considered to be the most advanced forms of personalized medicine, demonstrating safety and efficacy in numerous rare diseases. Although the orphan drug development boom has resulted in regulatory approval of multiple gene and cell therapies for various rare conditions, the application of these modalities to rare inherited skin conditions remains limited. Nonetheless, there are successful examples of both in vivo gene therapy- and ex vivo cell therapy-based approaches developed to treat EB and ichthyosis. This review highlights preclinical research and the clinical development of gene and cell therapies for multiple subtypes of these two devastating congenital skin conditions, including a gene therapy recently approved by the U.S. Food and Drug Administration for the treatment of recessive dystrophic EB.

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来源期刊
Dermatology and Therapy
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.
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