A global network for EB specialists

Transcription

1 Clinical Network of EB Centres and Experts A global network for EB specialists DEBRA International Annual Congress Paris, France September 19-21, 2014 Gabriela Pohla-Gubo, PhD Department of Dermatology & EB House Austria General Hospital, Paracelsus Medical University Salzburg

2 EB-CLINET - Background DEBRA Austria Founded in 1995 Raised money to build the EB House Austria EB House Austria Opened in 2005 Joint venture of DEBRA Austria and Salzburger Landesklinikum(SALK), Dept. of Dermatology, Paracelsus Medical University (PMU) Salzburg

3 3 Units at the EB House Austria Outpatient Unit Dr. Anja Diem Research Unit Univ.-Prof. Dr. Johann Bauer Academy Dr. Gabriela Pohla-Gubo

4 EB Outpatient Unit Aims at finding the suitable therapy for this special person with this special life in these special circumstances... Patient-oriented multidisciplinary care Clinical projects Patient and family education and training 2 Physicians 1 Office manager 2 Nurses 1 Project manager Working together with a multidisciplinary team of 40 experts at the different departments of the hospital

5 EB Research Unit Aims at being the first centre worldwide that provides therapies for all forms of EB Ex-vivo gene/cell therapy of all recessive and dominant forms of EB Small molecules for EB simplex and EB junctionalis Herlitz Control of immune reaction after expression of neo proteins Aims at finding cures for secondary complications of EB Therapeutic applications for aggressive forms of EB cancer in dystrophic EB Mechanisms of delayed wound healing and pseudo-syndactily in EB

6 EB Academy Unit Aims at sharing experience and knowledge Education and advanced training for patients, medical personnel and scientists Organisation of workshops, seminars and conferences Presentations at national and international events Aims at raising awareness and funding Public relations: scientific publications, lay press, reports Fundraising & charity : donator liaison and support Content management: eb-haus.org and eb-clinet.org Aims at building up prospering networks Cooperation with other networks for rare diseases Project EB-CLINET Linking clinical expertise in EB

7 EB-CLINET - Objectives Establishing a network of EB centres and EB experts in Europe and beyond: to promote the exchange of knowledge and expertise regarding EB, to ensure professional treatment for EB patients, to guarantee and simplify cross-border medical care, to create a basis for the recruitment of patients for future clinical studies and/or therapies with the aim of alleviating or even finding a cure for the disease.

8 EB-CLINET Work Packages Main projects and responsibilities 1 EB Register Peter van den Akker, Groningen, NL 2 Professionals Training & Education Leena Bruckner-Tuderman, Freiburg, DE 3 Clinical Practice Guidelines Cooperation with DEBRA International 4 Directories of Centres of Expertise, Laboratories & Biobanks EB-CLINET Team, Salzburg, AT 5 Expansion of the EB-CLINET network EB-CLINET Team, Salzburg, AT

9 EB-CLINET WP-1 EB Register WP-1 Project leader: Peter van den Akker, Groningen, NL & EB-CLINET Team, Salzburg, AT Aims at creating a global EB register that can be used to facilitate clinical trials (such as in TREAT-NMD) To be build on the existing DEB-registry (

10 What happened so far? EB-CLINET WP-1 EB Register 1 st EB-CLINET Register Workshop, April 4-5, 2013, Vienna, AT Cooperation with the bioinformatics group of the Groningen Genomics Coordination Center (Molgenis software, Morris Swertz) EB-CLINET as partner of a Horizon 2020 call (PHC-32, 2014): Advancing bioinformatics to meet biomedical and clinical needs Collaboration with the group of Prof. Kowalewski (Warsaw, PL): the DEB data sets from the Netherlands and Poland have been merged to one registry and include now data of >600 mutations and almost 1000 DEB patients will shortly be online A new curator (funded by Dutch Butterfly Child Foundation) will make sure that all existing published data are entered into the DEB registry Collaboration between EB-CLINET and the G-ERN initiative (all genodermatoses)

11 Next steps? EB-CLINET WP-1 EB Register To elaborate a lot of issues, such as to decide on the minimal data sets or consent issues in respect to European legislation To extend the DEB registry for all other subtypes of EB To cooperate with other initiatives on a common register for all types of genodermatoses (G-ERN group, Fondation René Touraine) To organise a 2 nd EB-CLINET Register Workshop early in 2015 Ultimately: to create an EB-CLINET register that can be used to facilitate clinical trials, or subsequently in case of any successful treatment possibilities to find those who may benefit Your input is welcome, please contact Peter van den Akker or the EB-CLINET team: p.c.van.den.akker@umcg.nl / office@eb-clinet.org

12 EB-CLINET WP-2 Professionals Training & Education WP-2 Project leader: Leena Bruckner-Tuderman, Freiburg, DE & EB-CLINET Team, Salzburg, AT Aims at improvement of medical care through exchange of knowledge and experience about EB 1 st and 2 nd International EB-CLINET Conference, 2012 and 2013, Salzburg, AT EB-CLINET Professional Training Hand Surgery, 2013, Salzburg, AT EB-CLINET Professional Training for Physicians, 2013, Sarajevo, BA Individual EB-CLINET trainings, Salzburg AT Communication on international trainings and tools EB-CLINET NEWS

13 CPGs help to ensure that clinical care is guided by evidence gained from science (evidence-based) and by expert opinion Topics: EB-CLINET WP-3 Clinical Practice Guidelines (CPGs) WP-3 Project leader: Francis Palisson & Avril Kennan, DEBRA International Aims atthe development of a series of CPGs that help to improve the medical care of EB patients across the globe Hand Surgery in EB high priority Oesophageal Dilatation in EB high priority Eye Care in EB highpriority Laboratory diagnosis of EB high priority Anaemia in EB priority Occupational Therapy in EB priority Renal Disease in EB priority Social and psychological care under consideration Physiotherapy in EB under consideration

14 EB-CLINET WP-3 Clinical Practice Guidelines (CPGs) Development of an international guideline for the laboratory diagnosis of EB (planning stage, EB-CLINET Team, Salzburg, AT) Immunofluorescence/Antigen mapping (IFM/AM) Mutation analyses (Sanger/Next Generation Sequencing) Normal human skin (NHS) EB patient (RDEB) EB-CLINET support for the development of further CPG s in the field of EB To find collaborators through the network willing to share their expertise EB-CLINET NEWS See the latest news on or

15 EB-CLINET WP-4 Directory of CE, Laboratories & Biobanks WP-4 Project leader: EB-CLINET Team, Salzburg, AT Aims at providing information about EB experts and EB centres, laboratories and bio banks across the globe EB-CLINET questionnaire (annual update!) Basis for data collection, data evaluation and communication Basis for localisation of EB experts, CE, laboratories and biobanks on interactive maps To be prepared for international assistance concerning requests from EB patients, physicians, or scientists

16 EB-CLINET WP-4 Directory of CE, Laboratories & Biobanks The EB-CLINET questionnaire Entrance card to be accepted as EB-CLINET partner For partners: a precondition to receive all information For us: a basis for data collection and information about needs Annual update of utmost importance Data Quality (correct, up-to-date, relevant, complete) There s no good information out of bad data Bad data quality causes delays in processes and support Questions: First to contact? Multidisciplinary care? Diagnostic possibilities? No. of patients known? Register?...? Results annual update 2014 (3 reminder sent out) Revised questionnaires received from 33 partners out of 27 countries (~ 50 %) Question on how to proceed with partners not reacting any more? We need to receive up-to-date information to provide adequate help! Online questionnaire will be prepared to facilitate data collection

17 EB-CLINET WP-5 Expansion of the EB-CLINET network WP-5 Project leader: EB-CLINET Team, Salzburg, AT Aims at finding candidate EB experts and centres for medical care all over the world Recruitment of new partners (Asia, Africa,...) Development of an online questionnaire to facilitate entering the network Include other parties (DEBRA s, patients) to spread the information and help us to find new contacts Interested in becoming an EB-CLINET partner? Contact us: org

18 EB-CLINET Means of communication EB-CLINET NEWS Information folder EB-CLINET Website Under development: Online questionnaire EB-CLINET address for direct contact to partners (e.g.

19 EB-CLINET Partners/Countries (September 2014) EB-CLINET Partners: 61 EB-CLINET Countries: 50 Europe (34) Austria Luxembourg Belgium Macedonia Bosnia Herzegov. Montenegro Bulgaria Netherlands Croatia Norway Cyprus Poland Czech Republic Portugal Denmark Romania Estonia Russia Finland Serbia France Slovakia Germany Slovenia Greece Spain Hungary Sweden Ireland Switzerland Italy Ukraine Lithuania United Kingdom 26/28 EU member states 8other European countries 16 countries outside Europe International (16) Australia Brazil Canada Chile China Colombia Egypt India Iran Israel Japan Kuwait Mexico New Zealand South Korea USA

20 EB-CLINET Perspectives Improving the management of the EB-CLINET network and linking its partners ensure and enhance data quality use new tools possibility for direct contacts Strengthening the existing network with new inputs, contributing to the 5 work packages Using synergies by cooperation and interchange with other networks (e.g. DEBRA International, EBWB, EURORDIS, Fondation René Touraine...) Sharing information and knowledge EB-CLINET NEWS

21 EB-CLINET Project Team Helmut Hintner Rainer Riedl Gabriela Pohla-Gubo Elisabeth Mühringer Julia Rebhan Johann Bauer & EB-CLINET Project Associates Peter van den Akker (NL) Leena Bruckner- Tudermann (DE) Francis Palisson (CL) Avril Kennan (IE) Marcel Jonkman (NL) Jemima Mellerio & Anna Martinez (UK) 3 rd Conference of EB-CLINET September 2015, London,UK

22 SAVE THE DATE 3 rd Conference of EB-CLINET Clinical Network of EB Centres and Experts September 2015, London, UK Key topics: Update on registries for EB clinical centresand diagnostic laboratories Update on mutation databases in EB Clinical Practice Guidelines for EB Opportunities for education and training between EB centres Research update: opportunities for research collaborations and clinical trials Clinical cases and series for discussion

23 EB-CLINET One Network One Common Mission T OGETHER E VERYONE A CHIEVES M ORE Work together to further develop specialised medical care for people with EB and to ensurethat they have the best possible quality of life.

24 Thankyouforyourattention!