Neue Lokal- und Systemtherapien bei Epidermolysis bullosa

Epidermolysis bullosa (EB) refers to a rare, heterogeneous group of genodermatoses characterized by increased skin and mucosal fragility. Advances in molecular pathophysiology have facilitated the development of various local and systemic therapeutic approaches in recent years, undergoing evaluation in clinical trials. A significant milestone is the US Food and Drug Administration (FDA) approval of topical gene therapy, beremagene geperpavec (B-VEC), for treating chronic wounds in dystrophic EB with COL7A1 mutations. This therapy utilizes HSV‑1 vectors to transfer functional COL7A1 into skin cells. In a phase 3 study, approximately three-quarters of chronic wounds were completely closed after 3 months, compared to 20% in the placebo group. Clinical trials with RNA-based therapies, such as antisense oligonucleotides, and cell-based therapies like ABCB5+ mesenchymal stem cells, show potential for further application. The 2022 FDA-approved Filsuvez® Gel (Oleogel S‑10, Chiesi, Vienna) and topical vitamin D analog calcipotriol promote wound healing, while TGF‑β inhibitors like losartan address EB-associated fibrosis. Biologics like dupilumab, JAK, and mTOR inhibitors expand the therapeutic arsenal. Immunotherapies are currently considered first-line treatment for aggressive squamous cell carcinomas and are being studied alongside multikinase inhibitors (rigosertib). In the future, microRNA therapies may be utilized both in early diagnosis and topically to reduce tumor aggressiveness. Overall, these developments represent a significant advancement in the therapeutic landscape of EB, offering hope to affected individuals and their families.