European Conference on Rare Diseases – ECRD 2010 Krakow
Building momentum to turn the EU policy framework into effective services for patients across Europe
The European Conference on Rare Diseases (ECRD 2010 Krakow) attracted over 600 participants to the beautiful city of Krakow in the heart of Europe. The event entitled, “From Policies to Effective Services for Patients” was the largest organised to date with delegates coming from 43 countries, a third of which from Central and Eastern Europe, and from outside of Europe as well, all the way from the US, Canada, Israel, Tunisia and Argentina!
The Conference was the occasion to bring to the forefront four underlying strategic issues for the European rare disease community: National Plans for Rare Diseases, Centres of Expertise and European Reference Networks, Research and Treatments, Information and Specialised Services. Overall, there were 25 different sessions covering 8 themes, involving 73 speakers and 37 chairpersons. A third of the sessions were interpreted into English, French, German, Spanish and Polish. The programme included presentations, debates, workshops, satellite workshops, a poster session, a welcome reception and plenty of opportunity for participants to network and meet informally.
The choice of location was no coincidence, ECRD’s aim this year was to put rare diseases in Central and Eastern Europe in the spotlight and to extend the patients’ movement further East. A specific session was devoted to patient involvement in the development of national plans and centres of expertise in Eastern European countries, with inspiring presentations from Gabor Pogany, Dorica Dan and Mirando Mrsic, three important figures in the rare disease landscape of Hungary, Romania and Croatia, respectively. Furthermore, 38 fellowships were granted to support patient representatives from Armenia, Bosnia, Bulgaria, Czech Republic, Estonia, Hungary, Latvia, Romania, Russia, Slovenia and Ukraine. Other participants also came from Georgia, Moldavia and Macedonia.
The ECRD 2010 Krakow has served to identify those areas that need better policies in order to fulfil the objectives of the Council Recommendation and to build momentum for national plans and strategies to be implemented across Europe,” declared EURORDIS’ CEO Yann Le Cam. “Indeed, the momentum applies to Poland as 20 Polish patient representatives, health-care professionals and scientists met on the first day of the Conference to sign a Common Declaration to the government calling for the establishment of a National Plan for Rare Diseases in Poland. They also suggested following the EuroPlan guidelines to accomplish their goals.”
Another important theme of the Conference was Centres of Expertise and European Reference Networks for Rare Diseases. A great number of sessions were devoted to discussing their value added and revisiting the basic concepts developed in the last 4 years, as well as the experience gained during the pilot phase. Follow-up sessions showcased European Reference Networks that have benefited from initial funding from the EC, such as the European Network of Centres of Expertise for Cystic Fibrosis (ECORN–CF) presented by Prof Thomas Wagner from the Johann-Wolfgang Goethe University, and the European Network for Dysmorphology (Dyscerne) presented by Prof Krystyna Chrzanowska from the Children's Memorial Health Institute in Poland. Both are now turning to patient organisations for a sustainable model to continue providing their services.
Special focus was put on the proposed EU directive on Cross-Border Health Care and its potential impact on patient mobility and mutualisation of expertise to ensure optimum care. The examples of the Epidermolysis Bullosa House in Salzburg, Austria, presented by Dr Pohla Gubo of DEBRA Austria, and the TREAT NMD network for neuromuscular diseases, presented by Dr Kate Bushby of TREAT NMD, Newcastle, served to illustrate and provide lessons from existing cross-border activities of centres of expertise. The value added of international cooperation between centres of expertise, was also explored, especially for ultra rare diseases, which are naturally few and far between, and can only be organised at the international level. The testimony from two Dutch parents, whose children suffer from Progeria and Marshall Smith Syndrome, put a face to the needs and expectations of ultra rare disease patients.
The third thematic pillar of the Conference revolved around ‘bringing science from the bench to the bedside’ starting with the enormous work underway to code, classify and integrate more than 7,000 rare diseases in the WHO’s International Classification of Diseases. Ana Rath from Orphanet and Dr Jakob Robert from the World Health Organisation in Geneva, explained the usefulness and progress made in the definition and classification of rare diseases so far.
The follow-up sessions focused on research policy and the necessary synergies to optimise rare disease research and its outcomes, as well as the utility of genetic testing to improve diagnostics and further research. Prof. David Barton, from the National Centre for Medical Genetics in Ireland, explained the implications of a hot topic these days: cross-border genetic testing.
A conference on rare diseases would not have been complete without a discussion on orphan drug development, paediatric investigations plans and advanced therapies, in order to bring innovative medicines to a wider public. Of particular interest were the discussions on improving access to orphan drugs, with Prof Hans Georg Eichler, Senior Medical Officer at the European Medicines Agency, Dr Claudia Wild from the Ludwig Boltzmann Institute of Health Technology Assessment in Vienna and Mr Andras Fehervary from Novartis.
Last but not least, a great deal of attention was given to the sharing of research infrastructures such as bio banks, databases and registries, and to the involvement of patient organisations in clinical trials. Amongst the issues debated, was the question of the governance, leadership, sustainability and cost of registries and databases, illustrated by long-standing registries carried by the European Haemophilia Consortium, the European network for Huntington disease and the European network for the study of Wilsons disease (EuroWilson).
Aside from the political agenda, participants were also invited to learn more about information services and medical education programmes for rare diseases. Those who signed up to the Help Lines session received information on how to structure their help line services to provide both medical and social information. In a parallel session, experienced patient advocates such as Christel Nourissier, from Prader Willi France and Rainald von Gizycki from Retina Europe shared their experience of including rare diseases and the patient’s perspective in medical schools’ curricula.
ECRD 2010 Krakow was also the place to discover cutting-edge initiatives to improve services for patients, families and carers in the form of a poster session. The jury had the difficult task of choosing two winners from 90 poster submissions. A study on the health care gap between Cystic Fibrosis patients in Eastern and Western Europe and the international registry of the European branch of Severe Chronic Neutropenia, were highly regarded.
Those who signed up to the PlayDecide sessions had the opportunity to get hands-on experience of this exciting new advocacy tool to debate complex public health issues of particular interest to rare disease patients. Everyone present was happy to use the available voting devices to voice their opinion about pre-implantation genetic diagnosis and the upper limit of spending on a single patient (the case of orphan drugs).
The Conference ended on a very positive note, with the introduction of the newly-formed EU Committee of Experts on Rare Diseases. The Committee, which will include around 50 representatives of all stakeholder groups, will act as a sort of ‘Parliament’ of the rare disease community and will advise on the implementation of the Commission Communication as well as the Council Recommendation on Rare Diseases, including topics highlighted at ECRD 2010 Krakow.
Start thinking about ECRD 2012 Brussels! See you then!
For more information:
Photos of the Conference
Video interviews about the Conference
Video interviews about Play Decide at the Conference
19 May 2010: European policy on rare disease gathers momentum at the European Conference on Rare Diseases ECRD 2010 Krakow
18 May 2010: Polish stakeholders sign petition for a National Plan for Rare Diseases during the European Conference on Rare Diseases (ECRD Krakow 2010)
This article was first published in the July 2010 issue of the EURORDIS newsletter
Author: Paloma Tejada
Photo credits: © 2010 Sylvain Gouraud except overhead shot © 2010 Vesa Nopanen