Theme Descriptions

Theme 1: Improving Healthcare Services

Co-theme leaders:
Kate Bushby, Professor of Neuromuscular Genetics, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne Hospital, UK
Véronique Héon-Klin, German Federal Ministry of Health, Germany 

The development of Centres of Expertise and European Reference Networks in the field of rare diseases is encouraged in the Council Recommendation on an Action in the Field of Rare Diseases and in the Directive on the application of patients’ rights in cross-border healthcare as a means of organising care for the thousands of heterogeneous rare conditions affecting scattered patient populations across Europe. The aim is to link all these Centres of Expertise together through European Reference Networks (ERNs) in order to gather expertise and improve healthcare for rare disease patients.

Theme 1 will look at the experience gained so implementing these concepts. In Session 1, three good practice examples of different types of Centers of Expertise will provide the backdrop to a discussion on the organisation of these types of centres. In Session 2, speakers will focus on the quality criteria that should be considered when evaluating such centres. Session 3 will review where we stand with the establishment of European Reference Networks and what can be expected for rare diseases.

Session 4 will explore the challenges of establishing seamless care pathways between the treating physician and the centres of expertise. In Session 5 and 6, the state of the art concerning advances and breakthroughs in diagnostic possibilities, such as the new generation sequencing, will be presented. The development of innovations in this field is very rapid and the challenge is now to ensure that these innovations benefit the people who need them most.

Theme 2: Knowledge Generation & Dissemination

Co-theme leaders : 
Ségolène Aymé, Emeritus, Director of Research, Director of International Affairs, ORPHANET-INSERM, France
Lesley Greene, Vice-President CLIMB, Vice-Chair COMP, Volunteer Patient Advocate, EURORDIS, UK

Without accessible accurate information about rare diseases, diagnosis and appropriate care is delayed. Without raising awareness and improving education about rare diseases and their impact, clinicians do not have the tools to do their job effectively, patients and carers are unsupported and isolated and research and industry are starved of essential incentives and data to develop effective treatments. This theme covers all aspects of knowledge generation and dissemination from coding and registries to publicity through media and examines the challenges and rewards from the perspective of all stakeholders.

Theme 3: Research from Discovery to Patients

Co-theme leaders:
Serge Braun, Scientific Director, AFM, France and Kay Parkinson, CEO and Founder, Alström Syndrome, UK

Rare disease research is still too fragmented and compartmentalised. This leads to lack of integration, duplication of efforts, lack of critical mass, thinking in “silos” and waste of resources. It also hinders progress towards better diagnosis and therapy for rare disease patients despite many opportunities offered by new technological developments. To improve the situation and ensure a rapid translation of discoveries into operational diagnostic and therapeutic tools, several initiatives have emerged at local, regional, national and international level which will be reported along with their outcomes during the sessions in this theme. 

Theme 4: State of the Art and Innovative Practices in Orphan Products

Co-theme leaders:
Emmanuelle Lecomte-Brisset,  ‎Quality Assurance, Regulatory Affairs, Head International Regulatory Strategy, Shire, Switzerland
Bruno Sepodes, Chair COMP, Portugal 

Fourteen years have passed since the adoption of the European Regulation on orphan medicinal products. Success in the stimulation of the research, development and bringing to the market of appropriate medications for orphan diseases has been achieved beyond expectation. However, work remains to continue to improve the legislative framework, to ensure patients have access to these treatments.
The aim of Theme 4 is to cover the latest initiatives and discuss innovative practices in orphan medicinal products at all stages of the development chain. It also addresses main challenges faced to accessing and securing availability of rare disease treatments to patients.
The theme will include presentations and panel discussions, enriched with the experience and expertise of the main stakeholders shaping the orphan landscape today.

Theme 5: Emerging Concepts & Future Policies for Rare Disease Therapies

Co-theme leaders:
Jordi Llinares Garcia, Head Orphan Medicines, Product Development Scientific Support Department, European Medicines Agency, EU
Paolo Siviero, Head of Economic Strategy and Pharmaceutical Policy, Italian Medicines Agency (AIFA), Italy

 Complementing Theme 4, Theme 5 will look to the future at what practical policies are being developed to facilitate access to treatments for rare diseases.

Participants will hear the perspectives of a range of stakeholders, including patient representatives, regulators, HTA bodies, payers and industry. The theme will include exchanges of views on how early dialogue is working in practice and how we can ensure a continuous dialogue throughout the life-cycle of a drug; what level of cooperation between the EMA and the FDA is possible or desirable to speed up drug development; how we can ensure that the voice of the patient is heard throughout all aspects of the processes; whether we are making the best use of the current regulatory framework; and whether patient access can be improved through increased collaboration at all stages.

To conclude, the Theme will examine the external influencing factors that can either support or threaten the continued availability of rare disease treatments and what the future holds in terms of potential alternatives in the development and availability of therapeutic interventions.

Theme 6: Beyond Medical Care

Co-theme leaders:
John Dart, Chief Operating Officer, Debra International, UK; EURORDIS Board of Directors, UK
Gabor Pogany, President, Rare Diseases Hungary, Member EUCERD, Hungary

Whilst high quality, accessible clinical care is essential for people with rare diseases, we are far more than just patients. This theme aims to explore social and other non-medical issues that impact on quality of life and access to full citizenship, to identify innovative solutions and programmes that address these issues and to make the case for embedding best practice in these areas into European and national policies and provisions.

The approach will be participative with platform speakers and delegates sharing knowledge, experience and aspirations, feeding into EURORDIS’ future strategy on specialised social services.
The need for National Plans and Centres of Expertise to recognise and include non-medical care will be emphasised and the guiding principles and experience gained so far evaluated. Innovative schemes that may serve as models for promoting independent living will be described, together with personal experiences of service users.