<center>Fifth European Conference on Rare Diseases
Krakow 2010: A magic moment </center>
Neither drifting volcanic ash nor heavy rainfall could dissuade over 600 international stakeholders from getting to the Fifth European Conference on Rare Diseases that took place in Krakow, Poland in mid-May. The event, sublimely organised by European patient umbrella organisation Eurordis - in particular the effort of the group’s Health Policy Officer François Houÿez and Event Manager Sharon Ashton - was deemed a “magical moment” in the history of the European rare disease movement as the charm of the city of Krakow worked its way into the very heart of the event. With the European Commission Communication on Rare Diseases: Europe’s challenges and the European Council Recommendation on an action in the field of rare diseases firmly established, the atmosphere was jubilant and the agenda practical: From Policies to Effective Services for Patients. Each of the eight themes of the conference, divided into twenty-four sessions, sought to address different aspects of the topic. With over 35% of participants coming from Central and Eastern Europe, expectations were high that individual Member State (MS) strategies would be moved forward during the sessions, for which simultaneous translations were available in up to five languages.
We have a dream …
Equating the quality of life of today’s European rare disease patients with pre-civil rights African-Americans, in the opening address Torben Groennebaek (Rare Disorders Denmark) evoked the dream of the rare disease community for equality and access. Meanwhile, a letter that was read aloud from the Polish Minister of Health underscored Poland’s commitment to the cause. Dr Andrzej Rys (Director of Public Health, European Commission) spoke of the cooperation between the Commission and the MS and the need for a unified EU strategy to combat knowledge fragmentation and scattered resources. The newly-formed European Union Committee of Experts for Rare Diseases will serve as a base of expertise to inform policy.
The first session of the conference exposed the Dynamic of National Initiatives for Rare Diseases. Co-chaired by Dr. Rys and Avril Daly (Genetic and Rare Disorders Organisation, Ireland) after a brief and excellent film in which Nick Fahy (DG Sanco) called for “efficiency, solidarity, and innovation”, Eurordis president Terkel Andersen took stock of the current situation, offering a brief tutorial on the history of rare disease advocacy in Europe, starting with Norway in the 1970s (the first RD conference took place in Oslo in 1979). He defined the main challenges in developing national plans as 1) the decentralised health care systems of some countries; 2) the need for supportive EU policies; and 3) sustainability. He also made reference to the European community’s three “founding texts” (Regulation (EC) No 141/2000 on Orphan Medicinal Products; the Council Recommendation on an action in the field of rare diseases; and the European Commission Communication on Rare Diseases: Europe’s challenges). Former chair of the EC Rare Disease Task Force Ségolène Aymé next took the microphone to discuss some current problems: Each country needs to have an adequate healthcare infrastructure in place, on top of which expert services can be built. Services need to be available AND affordable. Amongst the various elements to be considered are genetic services; disability and rehabilitation services; neonatal screening for at least PKU and hypothyroidism; academic research; laboratory networks; information; centres of expertise; funding for networks; patient group support; and access to innovative therapies. Networks are needed for developing clinical guidelines. A process that allows submitting questions to experts must be elaborated. Registry networks, which should be public/private partnerships, are crucial strategic tools. Genetic testing needs a reliable, workable cross-border mechanism.
Next, Prof. Johann Matthias Graf von der Schulenburg (Leibnitz University) discussed the German plan for rare diseases from the perspective of the health economist. There are some four million RD patients in Germany – the same amount as the country’s diabetic patients. Is the allocation of funds efficient? Is there fair allocation? Germany still lacks concrete knowledge on the situation of its RD patients. The recently-formed action league NAMSE (see OrphaNews Europe 07 April 2010) will address the knowledge gap. Germany’s timeline will lead to a strategy in 2013.
In the discussion part of the session, the need for plans specifically tailored to smaller countries (such as Macedonia) was educed. Participants representing extremely rare single gene diseases and chromosomal rearrangement disorders also emphasised their needs.
Choices to be made
After the opening of the conference, attendees were forced to choose between sessions addressing various aspects of the key theme offered simultaneously over the next two days, including the Added Value of Centres of Expertise; Improving Access to Orphan Drugs; Help Lines for Rare Diseases; National Plans and Centres of Expertise in Eastern countries; Access to Cross Border Care; Making the Best Use of Funds for Genetic Testing; Orphan Drug Development, Paediatric Investigation Plans and Advanced Therapies; Medical Education; The International Classification of Diseases Revision; Centres of Expertise for Ultra Rare Diseases; Involvement of Patients in Clinical Trials; and Databases and Registries.
Presentations were made by some familiar faces on the RD scene, including: Prof Josep Torrent-Farnell (former COMP chairman; Dr Robert Foundation); Antoni Montserrat (Policy Officer for Rare and Neuro-developmental Diseases, European Commission); Prof Hans Georg Eichler (Senior Medical Officer, European Medicines Agency); Yann Le Cam (CEO Eurordis), and Ségolène Aymé (RDTF leader; director of Orphanet). Orphanet, the pan-European portal for rare diseases and orphan drugs, was mentioned frequently throughout the conference for its successful offer of information useful to researchers, health professionals and patients alike.
There were also many experts from Poland and surrounding countries present: Prof. Cristina Rusu (University of Medicine and Pharmacy, Lasi, Romania); Miroslaw Zielinski (National Forum for Therapies for Rare Diseases Poland); Prof Rumen Stefanov (Bulgarian Association for Promotion of Education and Science); Dr Gabor Pogany (Huferdis, Hungary); Dorica Dan (Prader Willi, Romania); Mirando Mrsic (Croatian Society for Patients with RD); Prof Anna Tylki Szymanska (Children’s Memorial Health Institute, Metabolic Diseases); Prof Jolanta Sykut-Cegielska (Children’s Memorial Health Institute, Poland); Silvia Stuppäck (Central European Countries Plan Extensive Cooperation for Rare Diseases); Prof Krystyna Chrzanowska (Department of Medical Genetics, Children’s Memorial health Institute Poland); Prof Milan Macek (Faculty of Medicine, University Hospital Motol, Charles University Prague, Czech Republic); Prof Tomasz Grodzicky (Dean of the Faculty of Medicine, Krakow); Dr Marie Louise Borg (Ministry of Social Policy, Malta); Dr Bozenna Dembowska-Baginska (COMP); Pawel Wojtowicz (President of Polish Cystic Fibrosis Foundation MATIO); and Prof. Wojciech Cichy (Medical University in Poznan). Despite the presence of so many luminaries in the rare disease field, the absence of Poland’s First Lady Maria Kaczynska, who died in the 10 April plane accident that also took the life of the country’s president and other leading political, military, and church figures, was still felt.
A Poster Session allowed for networking - one of the most satisfying aspects of the conference. Two of the 70 posters displayed were singled out for special recognition: one based on a pan-European study of cystic fibrosis (Mehta et al; see OrphaNews Europe 12 May 2010) and the other describing data from a longitudinal study involving patients with congenital neutropenia from 23 countries.
There were also audience participatory sessions of the PlayDecide game, a method for introducing complex scientific and medical topics into the arena of public debate. PlayDecide allows patients to learn more about policy issues while fostering their ease in contributing to the discussion in multi-stakeholder events.
The final session of the conference regrouped the participants together again to learn more about the European Union Committee of Experts for Rare Diseases (EUCERD). In the Road Map 2010-2015 for the implementation of the Commission Communication session, Toni Montserrat (Policy Officer for Rare and Neuro-developmental Diseases, European Commission) evoked the little known science of “commitology” – how to best organise a new committee. The EUCERD, which will convene for the first time in October, will consist of almost 60 members - some of whom were asked to take the stage (S. Aymé; S. Koutouzov; Y. Le Cam; and D. Taruscio). Catherine Berens (DG Research) spoke of the desire for FP7 and other future calls to target the real needs of the RD community. The conference drew to an end with a presentation from Usher syndrome advocate Steffen Suchert (Faun-Stiftung, Germany) who left attendees with a demonstration of how a patient organisation can forward research and ultimately treatment. Mr. Suchert reminded the audience that, “We can move mountains, if we try.” ECRD 2010 in Krakow proved that the willingness to try is certainly present.