This document summarizes the activities of the Epidermolysis Bullosa (EB) House in Salzburg, Austria. [1] The EB House provides multidisciplinary care to over 200 EB patients from 15 countries annually. [2] It consists of an outpatient clinic, research laboratory, and education academy dedicated to the treatment, study, and prevention of EB. [3] The organizers hope to intensify cross-border healthcare, research efforts, and establish the EB House as a European reference center to improve quality of life for EB patients worldwide.

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: g.pohla-gubo@salk.at
Salzburg, Austria
Population: Austria 8,3 Mill.

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. 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. 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. 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. 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 www.eb-haus.eu
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. 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. 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 !