Epidermolysis Bullosa Care in Germany

Until 2003, no structures existed in Germany for special care of patients with rare diseases, such as epidermolysis bullosa (EB). At that point, the Federal Ministry of Education and Research announced a clinical research program—networks for rare diseases. The Network Epidermolysis Bullosa (EB Network), coordinated from the Department of Dermatology, University Medical Center Freiburg, has operated since October 2003 with the goal of improving diagnostics and clinical management, elucidating disease mechanisms, and development of novel therapies for EB ( www.netzwerk-eb.de ). Future goals of the EB Network include securing the clinical-diagnostic and IT structures established with grant support and focusing research on molecular disease mechanisms in EB and novel biologically valid therapies. Intensive collaborations with other networks for rare genetic diseases will generate durable structures in Germany and form a basis for future international consortia.

Until 2003, no structures existed in Germany for special care of patients with rare diseases, such as epidermolysis bullosa (EB). At that point, the Federal Ministry of Education and Research announced a clinical research program—networks for rare diseases. Competitive applications could be submitted for diseases with a prevalence of less than 5:10,000. The Network Epidermolysis Bullosa (EB Network), coordinated from the Department of Dermatology, University Medical Center Freiburg, has operated since October 2003 with the goal of improving diagnostics and clinical management, elucidating disease mechanisms, and development of novel therapies for EB ( www.netzwerk-eb.de ). The network currently has 6 partners, physicians and basic scientists, and its activities build on a combination of clinical and scientific expertise of the partners and the synergies generated between them. In the past 6 years, efficient clinical-diagnostic centers, multidisciplinary patient care, and a Web-based communication/information structure have been established. An EB patient registry exists as a prerequisite for research, which uses human tissues and mouse models and has generated significant new knowledge on dermal-epidermal adhesion and genotype-phenotype correlations in EB.

Two network centers, in Freiburg and Cologne, offer clinical and diagnostic services; 1 is responsible for the information technology (IT) infrastructure and 5 have experimental research projects. Fifteen collaborating clinical centers in Germany and in neighboring cities in Austria, Switzerland, and the Netherlands are associated with the network ( Fig. 1 ). The clinicians in these centers represent different medical specialties (eg, dermatology, pediatric dermatology, pediatrics, genetics, neurology, and dentistry); they refer patients, send diagnostic samples, and exchange information with the network. As a result, a multidisciplinary group of specialists interested in EB provides services in most of Germany, Austria, and Switzerland (see Fig. 1 ). Also the patient organizations, Dystrophic Epidermolysis Bullosa Research Association (DEBRA) Germany and DEBRA Europe, actively support the efforts to increase awareness on EB and the network activities.