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关键字:大疱性表皮松懈症

年  份:2019   点击量:68

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Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Strategies include gene‐, protein‐ and cell‐based therapies. This review discusses molecular procedures currently under investigation at the EB House Austria, a designated Centre of Expertise implemented in the European Reference Network for Rare and Undiagnosed Skin Diseases. Current clinical research activities at the EB House Austria include newly developed candidate substances that have emerged out of our translational research initiatives as well as already commercially available medications that are applied in off‐licensed indications. Squamous cell carcinoma is the major cause of death in severe forms of EB. We are evaluating immunotherapy using an anti‐PD1 monoclonal antibody as a palliative treatment option for locally advanced or metastatic squamous cell carcinoma of the skin unresponsive to previous systemic therapy. In addition, we are evaluating topical calcipotriol and topical diacerein as potential agents to improve the healing of skin wounds in EBS patients. Finally, the review will highlight the recent advancements of gene therapy development for EB.

大疱性表皮松解症(EB)是由至少20种不同基因突变引起的罕见遗传性皮肤脆弱性疾病的总称。目前不同突变引起的EB亚型都无法治愈,现有疗法只关注伤口和疼痛管理。因此,迫切需要新的有效的治疗方法。治疗方法包括以基因、蛋白质和细胞为基础的治疗方法。这篇综述讨论了目前奥地利EB House进行研究的分子程序。奥地利EB House当前的临床研究活动包括开发新的疗法(这些疗法源自我们的转化研究),以及用于“标签外”使用的商业化药物。鳞状细胞癌是严重EB患者死亡的主要原因。我们正在评估抗PD1单克隆抗体作为局部全身晚期或转移性鳞状上皮细胞癌患者姑息治疗选择的疗效,这些患者先前对全身疗法无反应。此外,我们正在评估局部卡泊三醇和局部双醋瑞因作为潜在药物提高EBS患者皮肤伤口愈合的疗效。最后,本综述将重点介绍EB基因疗法的最新进展。