EUROPEAN CONFERENCE ON RARE DISEASES Luxembourg 21-22 June 2005 EUROPEAN CONFERENCE ON RARE DISEASES Copyright 2005 © Eurordis For more information: www.eurordis.org Webcast of the conference and abstracts: www.rare-luxembourg2005.org TABLE OF CONTENT_3 ------------------------------------------------- ACKNOWLEDGEMENTS AND CREDITS A specialised clinic for Rare Diseases : the RD TABLE OF CONTENTS Outpatient’s Clinic (RDOC) in Italy …………… 48 ------------------------------------------------- ------------------------------------------------- 4 / RARE, BUT EXISTING The organisers particularly wish to thank ACKNOWLEDGEMENTS AND CREDITS 4.1 No code, no name, no existence …………… 49 ------------------------------------------------- the following persons/organisations/companies 4.2 Why do we need to code rare diseases? … 50 PROGRAMME COMMITTEE for their role : ------------------------------------------------- Members of the Programme Committee ……… 6 5 / RESEARCH AND CARE Conference Programme …………………………… 7 …… HER ROYAL HIGHNESS THE GRAND DUCHESS OF LUXEMBOURG Key features of the conference …………………… 12 5.1 Research for Rare Diseases in the EU 54 • Participants ……………………………………… 12 5.2 Fighting the fragmentation of research …… 55 A multi-disciplinary approach ………………… 55 THE EUROPEAN COMMISSION Funding of the conference ……………………… 14 Transfer of academic research towards • ------------------------------------------------- industrial development ………………………… 60 THE GOVERNEMENT OF LUXEMBOURG Speakers ……………………………………………… 16 Strengthening cooperation between academia • ------------------------------------------------- INTRODUCTION and industry ……………………………………… 62 THE CHAMBER OF COMMERCE OF LUXEMBOURG Researchers’ networks brought together by a Figures of rarity ……………………………………… 19 George Peters, Carine Radoux patients’ organisation …………………………… 64 Paradox of rarity ……………………………………… 20 • 5.3 Lessons learned from EU framework Diversity and heterogeneity of rare diseases …… 20 ASSOCIATION FRANCAISE CONTRE LES MYOPATHIES AFM/TELETHON programmes for research …………………… 65 Common characteristics of rare diseases ……… 21 • 5.4 Research networks …………………………… 67 Clarification of some related concepts ………… 22 FOR EURORDIS : European integrated project on Rare diseases …………………………………… 22 Christel Nourissier, Project Leader spino-cerebellar ataxias (EUROSCA) ………… 67 Neglected diseases ……………………………… 22 Wilson Disease : Creating a European Clinical Yann Le Cam, Chief Executive Officer Fight for recognition ………………………………… 22 Database and designing randomised François Houÿez, Project Manager Rare diseases as a reality ……………………… 22 controlled clinical trials ………………………… 68 Patrice Régnier, Finance Officer ------------------------------------------------- EUGINDAT ……………………………………… 69 Flaminia Macchia, European Public Affairs Officer 1 / OVERTURE 5.5 Establishing networks in myology : William Gibon, Assistant 1.1 The word of the President of Eurordis ……… 2 4 Give more muscle to myology! ……………… 70 Media Contact : Stefan Chrobok and Aart van Iterson 1.2 The European Commission ………………… 26 5.6 Research and success stories ……………… 72 • 1.3 The Ministry of Health of Luxembourg …… 28 Clinical trials: research on specific domains / OUR PARTNERS ------------------------------------------------- pathologies, the ESCAPE trial ………………… 72 ALAN in Luxembourg, Alliance Maladies Rares, Agrenska, 2 / EPIDEMIOLOGY Rare Infectious Diseases that can be cured … 73 Federacion Espanola de Enfermedades Raras, Rare Diseases Denmark, 2.1 Rare diseases in numbers …………………… 30 Collecting and sharing tissue and DNA : Czech Agency for Drug Control, Orphanet and Eurocat 2.2 Rare cancers among rare diseases ………… 36 EuroBioBank ……………………………………… 74 Incidence of rare cancers Data collection for the European Network AFM, Prader Willi France, Psico Ballet, Een Häerz fir Kriibskrank Kanner in Granada (1998-2001) ………………………… 36 on Brain Dysmyelinating Diseases ENBDD …… 76 • ------------------------------------------------- 5.7 Collecting and sharing registry data ………… 78 THE MEMBERS OF THE PROGRAMME COMMITTEE 3 / DIAGNOSING RARE DISEASES: 5.8 Building a technology platform : • health care systems always challenged Centre National de Génotypage ……………… 80 AND ALL ECRD2005 PARTICIPANTS 3.1 EurordisCare2 : patients loose ------------------------------------------------- • confidence in health care systems ………… 39 6 / TREATMENT AND CARE THANKS TO 3.2 Primary immune-deficiency : 6.1 Targeting research to improve For the conference web site : a clear illustration of diagnosis delays …… 42 quality of life…………………………………… 82 Graphic Design : Baptiste Ferrier, Programming Php/MySql : Olf Software 3.3 A patient’s testimony …………………………… 43 Importance in making an accurate, simpler and Programming XHTML/CSS/WAI, integration, project management : Gravelet-Multimédia 3.4 A health care professional testimony ……… 44 easier diagnostic ……………………………… 82 3.5 How to improve diagnosis? ………………… 46 Therapeutic solutions that already exist Broadcast of the conference on the Internet : Prous Science A network to better diagnose X-Linked Mental for genetic diseases …………………………… 83 Deficiency ………………………………………… 46 6.2 A response to the needs Event organiser in Luxembourg: Meetincs SA, André Vasanne and Aurélia Lourenco A database to better diagnose Oro-Dental of the clinical trial community …………………8 7 Photographer : Harold Moreau anomalies………………………………………… 47 6.3 Treating with orphan drugs …………………… 91 4_ECRD 2005 REPORT PARTNERS_5 ------------------------------------------------ Status Report and Health benefits after ------------------------------------------------- -------------------------------- the epidemiologic surveillance of congenital 5 years of Orphan Drug legislation …………… 91 10 / TRAINING AND INFORMATION anomalies. Currently, forty registries in Official Support PARTNERS nineteen European countries survey more Treating with Orphan Drugs : 10.1 Best practice guidelines for care ------------------------------- than one million births per year. EUROCAT EUROPEAN Organisers / Partners an academic view ………………………………… 96 and management ……………………………… 152 is currently funded under the Public Health COMMISSION, Orphan Drug Regulation : views of a patient Help-lines and written Information …………… 152 Programme of the EC General Directorate for Public Health Programme, Health. The Central Registry is based at the DG Health and Consumer representative …………………………………… 100 10.2 Internet resources for the rare disease University of Ulster, UK. Protection Orphan Drug Regulation : community ……………………………………… 157 www.eurocat.ulster.ac.uk Programme of Community action in the field EURORDIS (European Organisation for views of an industry representative …………… 103 10.3 Training families and carers in Norway …… 160 of public health (2003-2008) Rare Diseases). The European Organisation The programme, meant to complement Availability of orphan medicinal products 10.4 The Agrenska Foundation : for Rare Diseases brings together 217 rare FEDER, Federación national policies, aims to protect human a family programme ……………………………16 3 disease patients’ organisations from 23 in Europe ………………………………………… 105 Española de Enfermedades health and improve public health. On 23 countries including fifteen EU member states. Views of a health care system : 10.5 Training on genetic medicine, new Raras, is a charity September 2002, the European Parliament It is one of the largest patients’ organisations The NICE approach to rare diseases ………… 111 technologies …………………………………… 165 organisation which and the Council adopted a new six-year in Europe. Eurordis’ objectives are to build a represents more than 90 Community action programme for public Views of a National Competent Authority : ------------------------------------------------- strong pan-European community of people rare diseases support groups in Spain. Since health. This programme runs from the 1st affected by rare diseases, to be their voice at The Italian Medicines Agency ………………… 114 11 / PATIENTS’ RIGHTS: mobility, 1999 Feder has carried out activities to of January 2003 to the 31st of December the European level, and to fight against the National measures / incentives for the research care in a foreign country. Decisions raise awareness on this health and social 2008. impact of rare diseases. and development of orphan products : of the European Court of Justice. public problem, to support these families and The new programme is based on three www.eurordis.org improve their quality of life. general objectives: information, rapid Spain …………………………………………… 115 11.1 Trans-border access to care : a view www.enfermedades-raras.org reaction to health threats and health ------------------------------------------------- from the European Court of Justice ……… 166 promotion through addressing health 7 / ACCESSING APPROPRIATE Rights to medical care abroad under EC ÅGRENSKA determinants. Activities such as networks, CENTRE is a CARE : organisation of care regulation ………………………………………… 167 co-ordinated responses, sharing of Swedish national ORPHANET is a European database that experience, training and dissemination of ------------------------------------------------- competence centre for rare disorders. It 7.1 Disability : are financial compensations deals with rare diseases and orphan drugs. information and knowledge will be provides programmes for children and young adapted to Rare Diseases? ………………… 117 12 / STRATEGIES FOR PREVENTION ORPHANET aims to improve the diagnosis, inter-linked and mutually reinforcing. people with disabilities, their families and 12.1