EURORDIS Membership Meeting 2013 Presentations
The EURORDIS Annual General Assembly took place on 31 May, from 9:00 to 10:30, in Dubrovnik, Croatia.
The General Assembly was followed by the EURORDIS Membership Meeting 2013 (EMM), including a Plenary Session followed by 12 parallel Workshops held over a two day period.
Programme 
Presentations
Plenary Session
National Plans: the state of the art in 2013 across Europe progress Report: the National Plan in Croatia 
Prof. Dr Ingeborg Barišic, President of Croatian National Plan Committee
Making progress in National Plans: Comparison of different approaches in Denmark, Germany, and the UK 
Lene Jensen, Rare Disorders Denmark
On behalf of the EURORDIS-EUROPLAN Advisor Committee
Moving forward: Key common issues that need to be taken into account in National Plans 
Christel Nourissier, EUCERD patient representative & EURORDIS, France
On behalf of the EURORDIS-EUROPLAN Advisor Committee
Best practices in the Management, Funding, Indicators and Monitoring of a National Plan 
Dorica Dan, EUCERD patient representative & EURORDIS, Romania
On behalf of the EURORDIS-EUROPLAN Advisor Committee
Workshops
Rare Connect Satellite Workshop
http://moderators.rareconnect.org/best-practices/rareconnect-workshop-during-the-eurordis-membership-meeting-2013/
Workshop 1: Introduction to National Plans
Vlasta Zmazek, Croatian Alliance for Rare Diseases 
Ingrid Jageneau, RaDiOrg Belgium 
Lily Cannon, Cyprus Alliance for Rare Disorders 
Workshop 2: Funding for National Plans
EU sources of funding: opportunities to support National Plans for RD 
Antoni Montserrat, European Commission, DG SANCO
Squaring the circle: how EU Member States fund National Plans 
Domenica Taruscio, ISS, Italy
Thinking out of the box: National Plans without dedicated funding 
Yann Le Cam, EURORDIS Chief Executive Officer & EUCERD Vice-Chair
Alternative sources of funding 
Dorica Dan, RONARD, EUCERD, & EURORDIS, Romania
Workshop 3: Newborn screening & Genetic testing
Benefits and risks of Newborn screening from medical, societal and ethical points of view 
Helena Kaariainen, EUCERD Vice Chair, Finland
Practical aspects of implementing neonatal screening programs 
Martina Cornel, VUmc, The Netherlands
A patient view on ethics and governance in screening and advanced genetic testing 
Cor Oosterwijk, VSOP, Netherlands
Comparative experience on lysosomal diseases across Europe 
Anne Sophie Lapointe, Vaincre Les Maladies Lysosomales, France
Workshop 4: Rare Disease Patient Registries
Presentation of the outcomes of the EPIRARE professional’s survey 
Luciano Vittozzi, Istituto Superiore di Sanità, Italy, EPIRARE coordinator
Presentation of the outcomes of the EPIRARE patient’s survey 
Monica Ensini, EURORDIS, EPIRARE WP leader
EUCERD Draft recommendations on registries and data collection for Rare Diseases 
Ségolène Aymé, EUCERD Chair, France
Workshop 5: European Reference Networks & Centres of Expertise
EUCERD Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States 
Ségolène Aymé, EUCERD Chair, France
Case study: Alstrom Clinics 
Kay Parkinson, Alström Syndrome UK
Policy recommendations for Rare Disease Centres of Expertise 
Ahmed Syed, NHS Commissioning Board for rare diseases / specialised services, Consultant for the Polka project, UK
EUCERD Draft Recommendation on European Reference Networks 
Stephen Lynn, University of Newcastle, UK
Case study: ECORN CF 
Daniela d’Alquen, Kinderklinik Würzburg, Germany
Workshop 6: Specialised Social Services: need, policy, case studies
EUCERD Joint-Action Work Package on Specialised Social Services and Integration of RDs into Social Policies: state of the art 
Raquel Castro, EURORDIS
Reinforcing the need for Specialised Social Services 
Dorica Dan, EUCERD, EURORDIS & RONARD, Romania
Guiding Principles for Specialised Social Services 
Raquel Castro, EURORDIS
Introducing social policies and services into National Plans: French example 
Christel Nourissier, EUCERD & EURORDIS, France
Frambu Resource Centre 
Lisen Mohr, Norway
Serious Fun Camps 
Terry Dignan, European Network of Therapeutic Recreation Programmes, Ireland
Prader Willi Group Homes, Germany 
Norbert Hödebeck-Stuntebeck, Diakonische Stiftung Wittekindshof, Germany
Workshop 7: Off-label use in Rare Diseases
Pilot Survey on Off-label use: Results 
Rob Camp, EURORDIS
Next Steps: large scale collection of Off-label use data 
Richard West, Behcet’s Society UK and EURORDIS DITA Task Force, UK
How French authorities are now regulating off-label use 
Claudie Baleydier, Friedreich Ataxia, France
Medicines, side effects & patient safety
EU Directive on Pharmacovigilance and the role of patients’ organisations 
François Houÿez, EURORDIS
MPS Society UK role in Fabrazyme®/Cerezyme® shortages 
Christine Lavery, MPS Society UK
Workshop 8: European Rare Diseases Registration Platform
Data and cues for a European Rare Diseases Registration Platform 
Fabrizio Bianchi, IFC-CNR Pisa, Italy, EPIRARE WP leader
The new Data Protection Regulation and its implications for registries
David Townend, Maastricht University, The Netherlands, EPIRARE WP leader
A European Union framework for action in the field of Rare Diseases registration 
Antoni Montserrat, European Commission, DG SANCO
Workshop 9: DITA Task force meeting
Patient-focused endpoints in the nitisinone study 
Oliver Timmis, Alkaptonuria Society, UK
Research on Natural, Alternative, Complementary or Traditional treatments (NATC) for rare diseases 
Rainald von Gizycki, Pro Retina, Germany
Clinical Trial data and transparency: Does the consent letter matter or not? 
François Houÿez, EURORDIS
Workshop 10: Social & medical services initiated by patient organisations
How can a patient organisation support individual care plans for patients? The example of the complex case managers in the AFM 
Béatrice de Montleau, AFM/EURORDIS, France
Best practice examples: Epidermolysis bullosa nursing and social care services 
Claire Mather, Director of Nursing & Social Care of DEBRA UK
Casa dos Marcos Respite Care Service, Portugal 
Paula Brito e Costa, Rarissimas, Portugal
NoRo Resource Centre 
Dorica Dan, RONARD, EUCERD, & EURORDIS, Romania
Workshop 11: Improving Access to Orphan Medecinal Products (OMP)
Overview of actions to improve access to OMP in Europe 
Yann Le Cam, EURORDIS Chief Executive Officer & EUCERD Vice Chair
EUCERD recommendation for a CAVOMP Information Flow 
Wills Hughes-Wilson, SOBI, Sweden
The Common European Transparent Value Framework for Coordinated Access to OMP: new European collaborations, challenges & solutions 
Flaminia Macchia, EURORDIS
National measures to promote access to OMP 
Avril Daly, GRDO, Ireland
Workshop 12: Standards of Diagnosis & Care, Therapeutic Education
The Importance of Therapeutic Education in the context of Rare Disease Care 
Aymeric Audiau, Alliance Maladies Rares, France
Patient Involvement and National Standards of care – The example of Tuberous Sclerosis 
Liselotte Wesley Andersen, Danish TS Society, Denmark
European standards of care – The example of Duchenne Muscular Dystrophy 
Stephen Lynn, Treat NMD, UK
Page created: 07/06/2013
Page last updated: 24/10/2013