Epidermolysis bullosa – Ein gelungenes Beispiel translationaler Medizin

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• 作者：Dr. Christine Prodinger ; Assoc.-Prof. Dr. Martin Laimer…
• 关键词：Epidermolysis bullosa ; Ex ; vivo ; Gentherapie ; Stammzelltherapie ; Revertantes Mosaik bei EB ; Diacerein ; Creme ; Epidermolysis bullosa ; Ex vivo gene therapy ; Stemcell therapy ; Revertant mosaic in EB ; Diacerein creme
• 刊名：hautnah
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：15
• 期：1
• 页码：19-23
• 全文大小：176 KB
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• 作者单位：Dr. Christine Prodinger (1)
  Assoc.-Prof. Dr. Martin Laimer (1)
  Prim. Prof. Dr. Johann W. Bauer (1)
  
  1. Universitätsklinik für Dermatologie, Paracelsus Medizinische Universität Salzburg, Müllner Hauptstraße 48, 5020, Salzburg, Österreich
  
• 刊物主题：Dermatology; Medicine/Public Health, general;
• 出版者：Springer Vienna

文摘

Epidermolysis bullosa (EB) is a rare blistering skin disorder characterized by extensive clinical and genetic heterogeneity. Current treatment of EB patients is limited to mainly symptomatic (wound) therapies. New molecular therapeutic approaches, based on the concept of translational medicine, open up prospects of significantly improved management strategies. In particular, ex vivo gene therapy or stem-cell skin therapy using human epidermal cells in combination with correcting retroviral cDNA, represent promising methods for the treatment of EB. Keratinocytes obtained from small skin biopsies can be expanded in culture comparatively easily following the identification and selection of epidermal stem cells and transfection. Epidermal grafts of corrected stem cells are then transplanted to chronic, non-healing wounds of EB patients. Thus, it is possible to ameliorate clinical symptoms of the EB in the long term or eventually permanently. Further, interconnected molecular biological and clinical research in the EB-House Austria in Salzburg has led to the development of an anti-inflammatory cream. The active compound is the non-steroidal anti-inflammatory drug (NSAP) diacerein, which shows a significant improvement in the phenotypic expression in EB simplex patients, with predominant reduction of blistering. Diacerein inhibits distinct stress signalling cascades through regulatory activity on inflammatory cytokines and IL-1β. By obtaining the “orphan designation” of the European Medicines Agency (EMA), an ongoing development of this new drug can be pursued in a large European study, with expected marketing approval in near future. Keywords Epidermolysis bullosa Ex vivo gene therapy Stemcell therapy Revertant mosaic in EB Diacerein creme