FIISC is the project coordinator for BUR-EB. It was the coordinator of the BURQOL-RD project, whose methods and results have been used to prepare the present proposal. FIISC has a long experience in health economics (cost-of-illness studies), and qualitative research (co-creation of self-management capacity building, patient-centred approach), among others. FIISC forms part of ERN-Clinical Guidelines Programme, developing clinical decision-making tools in the field of rare diseases. It is a partner in the PECUNIA project, that has developed tools to estimate unit costs across Europe, which would be used in BUR-EB. The group participated in other relevant public health actions (RARE-BestPractices, ASDEU, EPIRARE, IC-Health, EUROPLAN). BUR-EB STUDY GROUP:
  • Renata Linertová
  • Lidia García-Pérez
  • Cristina Valcárcel-Nazco
  • Alezandra Torres-Castaño
  • Ana Toledo-Chávarri
  • Carmen Guirado-Fuentes
  • Aránzazu Hernández-Yumar
  • Yolanda Ramallo-Fariña
IIER is a center of the Institute of Instituto de Salud Carlos III (ISCIII) and it is part of the International Consortium of Rare Diseases Research (IRDiRC). IIER collaborates with the Spanish Ministry of Health on the development of the Spanish RD Registry and the RD Strategy of the Spanish NHS. IIER has been participating in the most relevant European public health actions in the field of RD (e.g., BURQOL-RD, RDCONNECT, EUROPLAN, EPIRARE, RARE-BestPractices). BUR-EB STUDY GROUP:
  • Verónica Alonso-Ferreira
  • Juan Benito Lozano
  • Manuel Posada de la Paz


The Health Economics Research Center has developed cost-of-illness studies in various RDs and immune-mediated dermatological conditions. The group validated measurement tools to assess HRQoL, well-being, care-related QoL, productivity and PREM, and developed country-specific value sets for preference-based HRQoL measures for use in economic evaluations. The group participated in the BURQOL-RD and PECUNIA projects. BUR-EB STUDY GROUP:
  • Márta Péntek
  • László Gulácsi
  • Zsombor Zrubka


Bambino Gesù Hospital coordinates the largest EB reference center in Italy, where more than 200 EB patients are followed and the head of the Dermatology Unit and Rare Skin Diseases reference center, May El Hachem, is also member of the coordination team of ERN-Skin. Clinical research activities include evaluation of quality of life and family disease burden in rare skin disorders. BUR-EB STUDY GROUP:
  • May El Hachem
  • Giovanna Zambrano
  • Andrea Diociaiuti
  • Roberta Rotunno
  • Marta Ciofi Degli Atti


UKF has been involved in medical care and diagnosis of EB for more than 15 years. Dr. Has has been treating at least 100 cases per year and has access to a cohort of more than 1000 EB patients. UKF has recently conducted a large retrospective study of clinical characteristics and epidemiology burden of EB in Germany. BUR-EB STUDY GROUP:
  • Cristina Has


Dr. Bodemer coordinates an expert EB centre (MAGEC) that attends a cohort of >1000 patients/year. The group is particularly involved in the development of burden-scores in patients with rare skin diseases and in the evaluation of their social impact on the daily life of the patients and their families. BUR-EB STUDY GROUP:
  • Christine Bodemer
  • Smail HadjRabia
  • Catherine Champseix
  • Hélène Dufresne

Patient Advocacy Organizations

DEBRA International


DEBRA Germany


Bulgarian Association for Promotion of Education and Science (BAPES)

BAPES launched the Information Centre for Rare Diseases and Orphan Drugs, ICRDOD (2004), the “RareDis” Medical Centre (2009) and the Centre for Health Technology Assessment and Analysis, CAHTA (2013). The group participated in BURQOL-RD and in all major EC projects in RD.


  • Rumen Stefanov
  • Georgi Iskrov
  • Georgi Stefanov