THEME 2: CENTRES OF EXPERTISE AND EUROPEAN REFERENCE NETWORKS

Cross-border health care: Samples Mobility
- Where do we stand with the Directive on In vitro Diagnostics and their consequences on rare diseases
- Cross-border genetic testing: issues and solutions
- External Quality Assessment of genetic testing at EU level of testing: a necessity for quality of care

Session Chair: Helena Kaarianien, Vice Chair EUCERD, Ministry of Health, Finland

Speakers:

David Barton, National Centre for Medical Genetics, Ireland

Jean-Jacques Cassiman, Professor at Center for Human Genetics, Forensic Medicine, Leuven, Belgium

Els Dequeker, EuroGenTest, Centre for Human Genetics, Leuven, Belgium

Panellist:

Olaf Hiort, Professor of Pediatrics, Pediatric Endocrinologist, Molecular genetics of endocrinogical disorders, University of Lübeck, Germany

THEME 3: INFORMATION & PUBLIC HEALTH

Improving Care through Clinical Guidelines:
- Professional Clinical guidelines: methodology and impact
- How reference networks develop guidelines
- The involvement of patients in developing clinical guidelines

Speakers:

Janbernd Kirschner. Consultant Pediatric Neurologist. University Medical Center Freiburg, Germany

THEME 4: RESEARCH FROM BENCH TO BEDSIDE

EU Infrastructures & Projects in the field of rare diseases and patient registries:
- Disease specific registries vs. product registries
- State of play of registries in Europe

Session Chair: Antoni Montserrat, European Commission, EU

Speakers:

Hanns Lochmüller, Newcastle University, UK

Domenica Taruscio, EPIRARE, Italy

Panellists:

Anil Mehta, Newcastle University, UK

THEME 5: ORPHAN PRODUCTS & RARE DISEASE THERAPIES

ACCESS TRACK
EU Policy developments in the field of access to orphan drugs
-The coordinated EU approach to access: CAVOD EC proposals
-Mechanism of Coordinated Access (MOCA)

Session Chair: Yann Le Cam, Chief Executive Officer, EURORDIS, Vice-Chair EUCERD, Belgium

Speakers:

Wills Hughes-Wilson, Member of the drafting group on EUCERD, Belgium

Ri De Ridder, Director General at RIZIV-INAMI, Belgium

THEME 6: ORPHAN PRODUCTS & RARE DISEASE THERAPIES

REGULATORY TRACK
Better deployment of the Orphan Drug Regulation
- Successful use of existing opportunities for orphan drug approval
- Specific challenges for orphan drugs with paediatric development

Session Chair: Kerstin Westermark, Medical Products Agency, Chair COMP, Sweden

Speakers:

Catarina Edfjäll, Shire

Panellists:

Jordi Llinares, EMA, UK

THEME 7: PATIENTS’ EMPOWERMENT

Organisational Level: Patients’ Generated Knowledge in practice
- Impact of social media and patient knowledge
- The Danish Experience
- CLIMB & the BEMIS Project

Session Chair:

Dorica Dan, Prader Willi, Romania

Speakers:

Denis Costello, EURORDIS, Spain

Birthe Holm, Rare Disorders Denmark and Member of the COMP,  Denmark

Pam Davies, CLIMB, UK

THEME 2: CENTRES OF EXPERTISE AND EUROPEAN REFERENCE NETWORKS

Health care pathways focusing on transition from childhood to adulthood:
- Transition from childhood to adulthood
- European Academy of Paediatricians
- The European Society of Childhood Disability

Session Chair: Dorica Dan, Romanian Prader Willi Association, Romania

Speakers:

Hans Lochmüller, Newcastle University, UK

Liesbeth Siderius, representative of Shwachman Diamond Syndrome Support Holland, Paediatrician, Youth Health Care, Meppel, The Netherlands

THEME 3: INFORMATION & PUBLIC HEALTH

New approaches for training and awareness:
- WeBSurg
- Free access to research results
- The Italian model

Session Chair:

Rainald von Gizycki, Retina Europe, Germany

Speakers:

Thomas Parent, WebSurg, INSERM, France

Simona Bellagambi, UNIAMO, Italy

THEME 4: RESEARCH FROM BENCH TO BEDSIDE

Breakthroughs in research in the field of rare diseases: New genetic diagnostics:
- Example of genetic diagnostics in a real life setting
- Technological advances in next generation sequencing
- Next generation sequencing: A policy perspective

Session Chair: Gert Matthijs, EUROGENTEST, Belgium

Speakers:

David Barton, National Centre for Medical Genetics, Ireland

Joris Veltman, Associate Professor Genomic Disorders, Nijmegen, The Netherlands

Koen Devriendt, Leuven, Belgium

THEME 5: ORPHAN PRODUCTS & RARE DISEASE THERAPIES

ACCESS TRACK
Novel reimbursement schemes as a potential way forward
- Belgian proposed system in development under the proposed national plan
- Risk sharing schemes: the Italian experience in the field of rare cancers
- Coverage with evidence development: the example of the Netherlands

Session Chair:

Jakub Adamski, Ministry of Health, Poland

Speakers:

Françoise Stryckman, Pharma.be and Ri de Ridder, Director General at RIZIV-INAMI, Belgium

Ad Schuurman, CVZ & Chair of MEDEV, The Netherlands

THEME 6: ORPHAN PRODUCTS & RARE DISEASE THERAPIES

REGULATORY TRACK
Compassionate Use Programmes
- Outcomes from EURORDIS Round Table of Companies workshop
- Survey results: Overview of recent compassionate use programmes from orphan medicinal products and issues raised

Session Chair:

Etelka Czondi, Romania

Speakers:

Arielle North, Belgium

François Houyez, EURORDIS, Europe

THEME 7: PATIENTS’ EMPOWERMENT

Projects that Empower and Inspire: Examples of the added value of working, learning and acting together
- Special Hungarian Empowerment Camps
- Oral Poster Presentation: Hole in the Wall volunteering programme to support life-changing experiences to children with serious medical conditions (Poster 326)
- Oral Poster Presentation: Rare Family Days "A Family Empowerment Programme" (Poster 32)
- Oral Poster Presentation: Developing the Institutional Capacity of Rare Disease Patient Associations: The promise of social entrepreneurship projects in business schools (Poster 153)

Session Chair: Gabor Pogany: President Rare Diseases Hungary, Member EUCERD, Hungary

Speakers:

Poganyné Bojitor Zsuzsanna, President Hungarian Williams Syndrome

Terence Dignan, Hole in the Wall Camps, Ireland

Birthe Holm, Rare Disorders Denmark, Member of the COMP, Denmark

Stéphane Courcombette

THEME 2: CENTRES OF EXPERTISE AND EUROPEAN REFERENCE NETWORKS

Cross-border health care: Patient Mobility
- Introduction and implementation of the EU Directive on Cross-Border Health Care
- The Danish Experience
- Expectations from Patients

Speakers:

Marianne Jespersen, Denmark

François Houyez, EURORDIS, France

THEME 3: INFORMATION & PUBLIC HEALTH

Fostering early diagnosis and prevention:
- State of the Art of screening in Europe and recommendations
- HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity
Panel discussion: Patient perspective and expectations

Speakers:

Peter Burgard, Heidelberg University, Germany

Ilona Autti-Rämö, Chief of Health Research Research Professor,The Social Insurance Institution Research Department, Helsinki, Sweden

THEME 4: RESEARCH FROM BENCH TO BEDSIDE

Breakthroughs in Research in the field of rare disease therapeutics:
- Finding new medicines to fight CF: Multiple Steps of a Success Story
- Intravenous technology for getting through blood brain barriers
- Exon Skipping for treating rare diseases

Session Chair: Kate Bushby, Newcastle University and NHS, Vice-Chair of the EUCERD, UK

Speakers:

Margarida Amaral, University of Lisbon, Dept of Chemistry and Biochemistry; Centre of Human Genetics, National Institute of Health, Portugal

Annemieke Aartsma-Rus, Associate professor at the Department of Human Genetics of the LUMC, The Netherlands

THEME 5: ORPHAN PRODUCTS & RARE DISEASE THERAPIES

ACCESS TRACK
 Ways to look at HTA for Orphan Drugs and Rare Diseases:
- IQWiG’s approach in Germany
- A new methodology for HTA Orpahn Drugs - the experience of AGNSS NHS
- How to consider orphan drugs in the mix – including multi-criteria decision-making analysis (MCDA)

Speakers:

Stefan Lange, Deputy Director of IQWiG, Germany

Josie Godfrey, AGNSS NHS, UK

Steven Simoens, Chair of Pharmacoeconomics, Catholic University of Leuven, Belgium

THEME 6: ORPHAN PRODUCTS & RARE DISEASE THERAPIES

REGULATORY TRACK
Treatment of rare cancers:
- Regulator’s perspective
- Academic perspective
- Physician’s perspective

Session Chair: Adam Heathfield, Pfizer, UK

THEME 7: PATIENTS’ EMPOWERMENT

Personal Level: The Forum of “Patient Groups Innovation”
- Engaging the support for drug development
- Is more involvement needed in the Clinical Trial Design & Endpoints?
- Patient perspective of Clinical Trial Involvement: Are they listening to my needs?

Speakers:

Nick Sireau, AKU Society and Nitisinone, UK

Elisabeth Vroom, Duchenne Patient Project, The Netherlands

Ulrike Pypops, Association Muco Vereniging, Belgium

THEME 2: CENTRES OF EXPERTISE AND EUROPEAN REFERENCE NETWORKS

Oral presentations of poster abstracts

Oral poster presentation: The Hunter Outcome Survey (HOS), a Value-Adding Disease Registry, Maria Paabol Larsen (Poster 82)

Oral poster presentation: Scope of centres of expertise for rare diseases in European countries where they exist, Orphanet (Poster 96)

Oral poster presentation: Drafting a National Plan for Rare Diseases in Germany by concerted action: The National Action League for People with Rare Diseases, Véronique Héon-klin (Poster 117)

THEME 3: INFORMATION & PUBLIC HEALTH

Primary and Secondary Prevention
- Genetic counseling for family planning
- The Spina Bifida example
- The Porphyria example

Speakers:

Helena Kaariainen, Vice Chair EUCERD, Ministry of Health, Finland

Pierre Mertens, International Federation for Spina Bifida and Hydrocephalus, Belgium

Jean-Charles Deybach, EPNET, France

THEME 4: RESEARCH FROM BENCH TO BEDSIDE

Oral presentations of poster abstracts

Oral poster presentation: From Front Room to Research Laboratory - How Alstrom Syndrome UK made that Journey, Mike Hales (Poster 25)

Oral poster presentation: European Clinical Research Infrastructures Network Integrating Activity (ECRIN-IA), Ségolène Aymé (Poster 351)

Oral poster presentation: Italian research on genetic diseases: worthy ideas deserve care, Francesca Sofia (Poster 364)

THEME 5: ORPHAN PRODUCTS & RARE DISEASE THERAPIES

ACCESS TRACK
The involvement of patients in the product life cycle
- Involving patient advocacy organisations in research
- Collaboration between patient advocacy organisations and sponsors of clinical trials for rare diseases
- Involvement of patient representatives in Marketing Authorisation and Post-marketing authorisation surveillance processes

Session Chair:

Michele Lipucci de Paola, Scientist in Plant Biology, University of Pisa, AVLT (Associazione Veneta Lotta alla Talassemia), Italy

Speakers:

Sharon Gibsztein, Norwegian Cystic Fibrosis Association, Norway

Susanna Leto di Priolo, Head Patient Advocacy, Novartis, Italy

François Houyez, EURORDIS, Europe

Panellist:

Pauline Evers, Member of the COMP, Federation of Cancer Patients, The Netherlands

THEME 6: ORPHAN PRODUCTS & RARE DISEASE THERAPIES

REGULATORY TRACK
Oral presentations of poster abstracts

Oral poster presentation: FROM RATIONING TO RATIONALITY: AN N-OF-ONE TRIAL SERVICE FOR OFF-LABEL MEDICINES FOR RARE (NEUROMUSCULAR) DISEASES, Stephanie Weinreich/Jan Verschuren (Poster 43)

Oral poster presentation: Consensus "Pathways of Care"  as a mean to an end, Hanka Meutgeert (Poster 55)

Oral poster presentation: Listening to children and parents voices: Using patient reported outcomes to empower patients with orphan diseases and their parents, Linda Abetz/Rob Arbuckle (Poster 64)

Oral poster presentation: Review of Marketing Authorisation Applications of Orphan Medicinal Products, Jordi Llinares (Poster 122)

THEME 7: PATIENTS’ EMPOWERMENT

Oral presentations of poster abstracts

Oral poster presentation: What price do we pay for repurposing medicines for rare diseases? Steven Simoens (Poster 81)

Oral poster presentation: EuroGentest: Harmonization, validation and standardization in genetic testing, Valerie de Groote (Poster 103)

Oral poster presentation: Estimating the Budget Impact of Orphan Medicines in Europe: 2010 – 2020, Carina Schrey (Poster 125)