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Session 17 pohla_gubo


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Session 17 pohla_gubo

  1. 1. 5th European Conference on Rare Diseases Krakow, 13-15 May 2010 Cross-border activities of Centres of Expertise The Epidermolysis Bullosa (EB) House in Salzburg Dr. Gabriela Pohla-Gubo Department of Dermatology, Paracelsus Medical University Salzburg, Austria Academy EB House Austria / Laboratory for Immunology, Allergology & Molecular Diagnostics General Hospital Salzburg, Muellner Hauptstrasse 48, 5020 Salzburg, AUSTRIA. Email: Salzburg, Austria Population: Austria 8,3 Mill.
  2. 2. Epidermolysis bullosa (EB) Congenital (inborn), rare (orphan), and at time incurable skin disease EB affects approximately 500 people in Austria, about 30.000 persons in the EU, and ~ 500.000 people worldwide The youngest EB patients are often called “butterfly children” because of their highly sensitive skin which is as fragile as the wings of a butterfly. Epidermolysis bullosa (EB) Painful blisters on the entire body: both externally (skin, eyes, etc.) and internally (e.g. inside the mouth or in the gastro-intestinal tract) Permanent pain and daily difficult wound treatment In addition to skin problems: hair loss, nail and tooth decay, deformation of the fingers and toes, as well as dietary and digestion problems Someone who suffers from EB has a most difficult and painful life that – in some cases – is threatened by aggressive skin tumours and thereby a shortened life expectancy!
  3. 3. DEBRA Austria (NGO/support group, founded 1995) 1. Best medical treatments Goals: 2. Research on finding a cure for EB 3. Education Fundraising and Public Relation… ♦ Press ♦ Advertising ♦ Websites ♦ Events ♦ Direct Mail ♦ ….. EB House Austria General Hospital Salzburg, Paracelsus Medical Universitiy Initiative from DEBRA Austria opened 2005 Dept. Dermatology EB House Austria ♦ Construction: ~1,7 Mill. € (1 Mill refunded from the government) ♦ Operation p/Y: ~600.000 € (refunded from DEBRA to the Hospital) Open to all people with EB and their families !
  4. 4. 3 Units at the EB House Austria ♦ At the EB Outpatient Unit, doctors and therapists provide state of the art medical advice, treatment, and support ♦ At the EB Research Laboratory, a research team works on techniques with the ultimate goal to find a cure by developing a successful molecular therapy ♦ At the EB Academy, continuous multi-disciplinary education and training for laypersons and experts is provided EB Outpatient Unit (Dr. Anja Diem) ♦ 2 EB-physicians, 2 EB-nurses Multidisciplinary medical care Group of experts from all fields of medicine ♦ Dermatologists ♦ Pediatricians/Pediatric surgeons Other issues… ♦ Dentists/Dental surgeons ♦ Ophthalmologists ♦ Genetic counselling ♦ Otorhinolaryngologists ♦ Internal Specialists ♦ Patient training (with the family) ♦ Gynecologists ♦ Clinical (patient-applied) research ♦ Physical Medicine & Rehabilitation ♦ Psychologists…. ♦ Legal questions ♦ Rights of handicapped persons ♦ Questions of financing patients care ♦ Kindergarden, school, profession…
  5. 5. Crossborder activities 200 Patients from 15 countries at the EB House 179 180 160 Anzahl EB-Patienten 140 120 100 80 55 60 40 Send all diagnostic/clinical documents, pictures… 20 8 12 4 1 5 2 1 2 1 1 1 2 2 0 AT BG BR CH DE HR HU IT MY PL SE TR UA VAE YU Land Contact adress/telephone from local physicians… ♦ Reimbursement (outpatient fee Salzburg: € 176,72) European Health Insurance Card (EHIC, formerly E 111) – treatment for an illness or injury you NOT had before! Only for travelling ! EU patients with a known disease (like EB): E 112 ♦ Available at local health insurance. Obligatory: date of treatment! ♦ E 112 not available: selfpay patient! Possibility to present bill after return, no guarantee of payback. Risk at the patient! Patients often treated free of charge! If necessary (external advice) we help with search for funding (e.g. via DEBRA) ♦ Other experiences: social, language, post-treatment care… EB Laboratory (Prof. Dr. Johann Bauer) ♦ 1 EB-physician, 15 EB-scientists Diagnostics (Mutations, prenatal/predictive) Basic Research (e.g. Cancer) Therapy/Gene therapy (Transsplicing) ♦ Projects ♦ Localized gene therapy for JEB & DEB ♦ Cancer therapy for RDEB patients ♦ Induction of immunological tolerance ♦ Wound healing and scarring in EB ♦ Small molecules (pharmaceutical treatment)…
  6. 6. EB Academy (Dr. Gabriela Pohla-Gubo) ♦ 1 EB-specialist, 1 EB-assistent Future-oriented education and training ♦ Patients and their relatives ♦ Doctors, therapists, nurses, social workers… ♦ Scientists Organization annual advanced training program ♦ Seminars, Workshops, Conferences, Congresses… Other issues… ♦ EB Registry Austria 200 179 180 160 Anzahl EB-Patienten 140 120 ♦ Publications, “Library“ 100 80 55 60 40 20 8 12 4 1 5 2 1 2 1 1 1 2 2 0 AT BG BR CH DE HR HU IT MY PL SE TR UA VA E YU ♦ Website Land ♦ Journal EB-Haus aktuell 300 276 (+18) 250 200 Gesamt EBS ♦ Social networking EBJ 150 EBD 109 (+2) 106 (+9) Kindler 100 unklassifiert 48 (+6) 50 11 (+1) 2 ♦ Service for donors… 0 1 EB Academy Networking - Visiting specialists Dédeé Murrell (AU) Kieran Moran (AU) Michele De Luca (IT) Giovanna Zambruno (IT) Maja Elachem (IT) Paola Zotti (IT) Jo-David Fine (US) Lloyd Mitchell (US) Mary Sprague (US) John McGrath (UK) Clare Robinson (UK) Robin Eady (UK) Jemma Mellerio (UK) Slobodna Murat –Susic (HR) Julio Salas (MX) Rodrigo Cepeda (MX) Francis Pallison (CL) Fernando Rodriguez (CL) Vania Declair Cohen (BR) Pakeeza Shaiq (PK) …….
  7. 7. EB House Austria - Next Steps… ♦ Intensification of Cross-border Healthcare ♦ Intensification of Research ♦ Translation of Research into Treatment EB Registry ♦ PROGRAMME OF COMMUNITY ACTION IN THE FIELD OF HEALTH (2008-2013). DG SANCO ♦ Proposal submitted 19 March 2010 European Genetic Registry of Inherited Epidermolysis Bullosa (EB) ♦ 3 year project ♦ Target: 1,500 patients ♦ Data resources open and accessible EB Registry ♦ Centres and associated partners: 1) Leena Bruckner-Tuderman, Freiburg, Germany 2) Giovanna Zambruno, Rome, Italy 3) John McGrath, London, UK 4) Johann Bauer, Gabriela Pohla-Gubo, Salzburg, Austria 5) Jean-Philippe Lacour (Meneguzzi), Nice, France 6) Alain Hovnanian, Paris, France 7) Marcel Jonkman, Groningen, The Netherlands 8) Sarolta Karpati, Budapest, Hungary 9) Anders Vahlquist, Uppsala, Sweden 10) Marcela Del Rio, Madrid, Spain 11) IT Partner (Freiburg, Germany) 12) DEBRA International Key instrument to increase knowledge on EB and develop clinical research !!!
  8. 8. EB House Austria – Our wishes.. (1) Approval as European Centre of Reference (ECR) According to the final report on ECR from RDTF expert group (2005): All criteria are fulfilled !!! 1. Appropriate capacities to diagnose, to do follow-up and manage patients with evidence of good outcomes when applicable 2. Attractiveness measured through the volume of activity which needs to be significantly larger than anticipated from the prevalence of the diseases and the catchment area… 3. Capacity to provide expert advice on diagnosis and care 4. Capacity to produce and adhere to good practice guidelines and to implement outcome measures and quality control 5. Demonstration of a multi-disciplinary approach 6. High level of expertise and experience documented through publications, grants or honorific positions, teaching and training activities 7. Strong contribution to research 8. Close links and collaboration with other expert centres at national and international level and capacity to network 9. Close links and collaboration with patients associations where they exist EB House Austria – Our wishes.. (2) Answering many open questions ♦ … what kind of therapy is the most successful? ♦ … what kind of prevention is necessary and useful? ♦ ….how can we improve the quality of life of our patients! ♦ … ????? (3) Finding additional partners ♦ … ready for social engagement! ♦ … ready for continuing support of our projects! ♦ … ready to maintain the work at the EB House Austria! Thank you for the attention !