EURORDIS Membership Meeting 2013 Presentations

The EURORDIS Annual General Assembly took place on 31 May, from 9:00 to 10:30, in Dubrovnik, Croatia.

• Agenda 
• Activity Report 2012 EURORDIS  
• Financial Report 2012 EURORDIS 
• Candidates for election to the EURORDIS Board of Directors 

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

Short presentations of national experiences with National Plans
Lene Jensen, Rare Disorders Denmark

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