EUROPEAN REFERENCE NETWORKS and PERSPECTIVES for the FUTURE. H.Hintner Department of Dermatology Paracelsus Medical University Salzburg

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1 EUROPEAN REFERENCE NETWORKS and PERSPECTIVES for the FUTURE H.Hintner Department of Dermatology Paracelsus Medical University Salzburg

2 RARE = ORPHAN DISEASES Incidence 1 in 2000 Often life threatening and chronic with high complexity (permanent high costs) rare diseases 6 8% of the population

3 Commission Communication 697 to the European Parliament, the Counsil, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe s Challenges Council Recommendation for European Action in the field of Rare Diseases

4 EUROPEAN COMMISSION RARE DISEASE TASK FORCE (HIGH LEVEL GROUP) EUROPEAN UNION COMMITTEE of EXPERTS on RARE DISEASES (EUCERD) Member Austria: H.Hintner

5 DIRECTIVE (EC 2011/24/EU) OF THE EUROPEAN PARLIAMENT and of the COUNCIL on the APPLICATION of PATIENT S RIGHTS in CROSS BORDER HEALTH CARE ( ) NATIONAL ACTION PLANS and STRATEGIES for RARE DISEASES (2013)

6 EUCERD RECOMMENDATIONS on RARE DISEASE EUROPEAN REFERENCE NETWORKS (RD ERNS)

7 ERN CORE COMPONENTS Disease registries (epidemiology, natural history, THERAPY STUDIES) Laboratories (quality assurance), biobanks Good practice guidelines Training and education (raising standards for care and treatment) Mechanism for evaluation and indicators Communications infrastructure Cross border referal mechanism Telemedicine CENTRES and EXPERTS

8 EUCERD RECOMMENDATIONS for QUALITY CRITERIA FOR CENTRES OF EXPERTISE FOR RARE DISEASES IN MEMBER STATES

9 CENTRE of EXPERTISE High number of patients (324 EB house Austria) Multidisciplinary approach Basic and clinical research Clinical studies Publications (peer reviewed) Training and education (EB academy) Networks (EB-CLINET) Patient groups (DEBRAs)

10 EB House Austria

11 EPIDERMOLYSIS BULLOSA - Definition Mutations in genes of struktural proteins in the epidermis or of the dermo-epidermal junction lead to blisters and wounds after minor mechanical trauma

12 Epidermolysis bullosa

13 Epidermolysis bullosa EB nevi

14 MULTIDISCIPLINARY APPROACH

15 47 original publications 32 chapters, reviews, editorials and correspondence 110 abstracts

16 EX-VIVO GENE THERAPY

17 Transplantation Gene therapy in JEB after 8 days after 10 months after 4 years Produktion of laminin

18 SALZBURG BOZEN MODENA

19 SKIN AS AN ATTRACTIVE TARGET for GENE THERAPY Ideal access Skin cells (keratinocytes, fibroblasts) can be cultured Immediate recognition of side effects Transplant easily removable Dermis as a bioreactor

20 THERAPY STUDIES Ex vivo gene therapy Protein therapy Cell therapy Stem cell therapy (bone marrow transplantation) Induced pluripotent cells Small molecules a.s.o.

21 E p i d e r m o l y s i s b u l l o s a

22 Research EB 2009 DEBRA International, EB Research Conference, Vienna, September 6-8, 2009!NO DUBLICATION (TIME and MONEY)!

23 DEBRA AUSTRIA

24 EB-CLINET = clinical network of EB-centres (CE s) and EB-experts

25 EB-CLINET (EUROPE) 25 Member states

26 EB-CLINET (GLOBAL) globally 43 countries (52 partners)

27 RD ERN Core components EB-CLINET Data collection and registries Van den Akker Guidelines - Mellerio Training and education Bruckner-Tuderman List of laboratories, biobanks a.s.o. BASE for CLINICAL STUDIES!

28 GENODERMATOSES Definition Hereditary skin diseases caused by mutations in genes coding for components of skin, mucous membranes, hair, nails or factors of the biogenetic maschinery for the production of those components

29 ~ 400 Monogenetic Genodermatoses Epidermolysis bullosa hereditaria - group Hereditary disorders of keratinisation Hereditary connective tissue diseases Ectodermal dysplasias Hereditary diseases of hair and nails Hereditary pigmentary disorders Hereditary metabolic diseases Genodermatoses with benign tumors Genodermatoses with malignant tumors Others

30 Cowden Syndrom Darier EKD fig.var. Mendes da Costa GENODERMATOSEN PTEN ATP 2 A 2 GJB 3,GJB 4 HAE PXE Cylindromas C 1 NH ABCC 6 16q12-q13 DERMATOLOGY PEDIATRY NEUROLOGY a.s.o.

31 Recklinghausen tuberous sclerosis (Pringle ) Netherton NF1 TSC1, TSC2 SPINK 5 Peutz Jeghers GENODERMATOSEN Ehlers-Danlos Pct STK11 Col UROD

32 EB Haus Austria and OTHER CEs EB-CLINET (Clinical network of EB-centres and EBexperts) EUROPEAN REFERENCE NETWORK (ERN) for GENODERMATOSES (GERN)

33 FOUNDATION RENE TOURAINE EB CLINET GENESKIN GERN a.s.o. GERN OTHER ERNs

34 FUNDING of ERNs (adequate and long-term) Co-ordinator time Project management Registry and data collection co-ordination IT (website, communication platform, a.s.o.) Support for network meetings (within and between ERN) Training and education packages (online, face to face) Board activities Evaluation

35 PRIORITY for RD ERNs ( /2025) Existing formal or informal networks of experts that have reached maturity and want to expand = CLINET Patient registries established Existing networks of patient groups = DEBRAs Sufficient research activities with appropriate output

36 EUROPEAN REFERENCE NETWORK for GENODERMATOSES = GERN KICK OFF MEETING at the 22nd Congress of the EADV, October 2013 ISTANBUL