EB (epidermolysis bullosa)‐House Austria: Pioneering work for the care of patients with rare diseases

Abstract

Summary The care of patients with epidermolysis bullosa (EB) poses a major challenge due to the rarity, heterogeneity and complexity of the disease as well as the occurrence of numerous primary and secondary extracutaneous manifestations, causing a significant morbidity and mortality. Specialized treatment centers are essential for offering these patients adequate care, including individual, interdisciplinary coordinated treatments according to current medical standards, and access to innovative therapeutic options. Against this background, the EB House Austria was founded in 2005 and designated the first national center of expertise for genodermatoses with a focus on EB in 2017. In the same year, it became a member of the European Reference Network for Rare Skin Diseases (ERN Skin). The pillars of this institution (outpatient clinic, research unit, academy, clinical study center) interact closely with each other, with numerous national and international clinical and scientific partners, as well as with patients and their relatives via the DEBRA Austria patient group. The development of the EB House Austria as a reference center is characterized by a long‐term pioneering work, which in turn could pave the way for the optimization of care for comparable diseases as well as general care structures.

RSDB: A rare skin disease database to link drugs with potential drug targets for rare skin diseases

“…Epidermolysis bullosa (E.B.) is a family of devastating rare skin diseases with friction inflicting painful, open wounds within the skin and internal epithelial tissue blistering 14 – 16 . Recent E.B.…”

Research in practice: Towards deciphering the role of epidermal proteases in recessive dystrophic epidermolysis bullosa progression

“…Different therapies are currently developed to treat RDEB such as RNA‐, gene‐ or cell‐based therapies and symptom relief therapies using pharmaceutical compounds [6]. However, RDEB remains an incurable disease responsible for very poor quality of life and premature death [7]. A better understanding of the molecular mechanisms driving RDEB progression, including the role of the epidermis in cSCCs development, is a prerequisite for the development of innovative therapeutic strategies.…”

Forschen für die Praxis: Die Rolle epidermaler Proteasen in der Progression der rezessiven dystrophen Epidermolysis bullosa

“…Derzeit werden verschiedene Therapien zur Behandlung der RDEB entwickelt, darunter RNA‐, Gen‐ oder zellbasierte Therapien sowie symptomlindernde Therapien mit bereits zugelassenen pharmazeutischen Wirkstoffen [6]. Dennoch bleibt die RDEB eine unheilbare Krankheit, die für eine sehr geringe Lebensqualität und einen frühzeitigen Tod verantwortlich ist [7]. Ein besseres Verständnis der molekularen Mechanismen ihrer Progression ist wichtig, um innovative Therapien zu entwickeln.…”