As part of this year’s Rare Disease Day awareness-raising campaign EURORDIS organised a Workshop to bring together the main players to discuss the future of rare disease research in Europe. The meeting, entitled « Bridging Patients and Researchers to Build the Future Agenda for Rare Disease Research in Europe », was held March 1st, 2010 at the Centre de Presse International in Brussels.

The event, which was co-organised with In partnership with E-RARE the European Commission, Orphanet and EuroPlan, attracted over 100 participants from 15 countries, including European and national research authorities, patient organisations, industry, as well as researchers and the media. Throughout the day, prestigious speakers, panellists and discussants made the case for rare disease research to be included in public funding schemes and remain high in the European research agenda.

The opening remarks by Robert Madelin, Director-General for Health and Consumers framed the discussions within the broader EU health agenda and the objectives of the Lisbon Treaty. “Now is a good time to refocus the strategy for research around your set of health concerns,” he said. “Link your case to the broader health agenda…innovation for rare diseases has spin-offs for others….the health policy agenda needs the vision, creativity and activism that can come out from a network such as yours.”

 

In line with this year’s Rare Disease Day focus on « bridging patients and researchers », the Workshop aimed at identifying the future priorities in rare disease research, both from the researcher and patient perspective, as well as ensuring a better collaboration of all interested parties.

Segolene Aymé kicked off the meeting with a fascinating presentation based on an Orphanet study called RD Platform, which examines the trends and determinants of rare disease research in Europe. The main conclusions of this study are that there is no correlation between prevalence of the disease and research interest, especially given that many rare conditions serve to model frequent conditions, such as Parkinson’s, diabetes and obesity. Nevertheless, most research projects and most research teams, as well as orphan drug designations and clinical trials continue to be concentrated on a few diseases, the ‘winners’ being Cystic Fibrosis and Neuromuscular diseases. Although there have been some innovative approaches recorded in cell and gene therapy, drug therapies are still the most active area in the field of rare disease research. Most progress in rare disease research has been done in gene identification, which has in turn improved diagnosis and stimulated more research and therapy development. 

 

Perhaps more interestingly for patient organisations, the Orphanet study confirms that the existence of patient organisations is an essential determinant of rare disease research, together with the existence of registries and European networks of research or Centres of Expertise. “Research needs a community of interested people to flourish,” argues Segolene Aymé. According to her observations, all areas of rare disease research that are successful have a register, a network, a critical mass of publications and at least one active patient organisation behind them. Although it is impossible to say which is ‘the chicken or the egg’, there is a dynamic between all these four elements and they all need to be in place for research to thrive.

 

The following session of the Workshop addressed the expectations of rare disease research from the perspectives of both researchers and patients. Manuel Posada de La Paz, Head of the Rare Disease Research Institute at the Instituto de Salud Carlos III, Spain, from the E-RARE network presented the results of a survey which consulted mainly researchers to identify priorities and bottlenecks in rare disease research. The main recommendations to the European Commission that came out of this study are: to increase funding; promote rare diseases as a model for common diseases; ease mobility for clinicians; fund proof of concept; fund gaps in translational research and clinical trials; address neglected diseases (very rare) and promote EU-funded networks.

 

The morning session ended with a presentation from Fabrizia Bignami, Research and Therapeutics Director, who presented the results of a survey conducted by EURORDIS of 300 patient organisations, representing 110 rare diseases in 29 European countries, to find out in what ways and to what extent, patient organisations support research. The survey also enquired about priorities and bottlenecks in rare disease research from the patient’s perspective.

 

In the afternoon, participants were presented the state of the art in rare disease research policy in Europe. Manuel Hallen, Head of Unit Medical and Public Health Research, DG Research, drew a precise picture of rare disease research currently supported by the European Commission. His presentation was followed by presentations describing two EU-supported projects to advance rare disease research policy at the European and national levels: E-RARE and EuroPlan. 

 

Participants agreed that the Workshop was a success in itself by bringing together all leading players, at a critical moment, to underline the importance of investing in rare disease research both at national and EU level

 

“EURORDIS used its pivotal role to bring together all key players to shape the rare disease research policy agenda so as to create a new momentum and bring priorities to the surface,” declared Yann Le Cam, Chief Executive Officer of EURORDIS. ”Now, we need to continue joining forces while bringing in others to ensure rare diseases become a higher priority in the EU 8th Research Framework Programme (2014-2020).”

 

EURORDIS Survey of Patient Groups’ Role and Priorities in Rare Disease Research

 

Author: Paloma Tejada
Photo credits: © European Union, 2010 & EURORDIS

 

This article first appeared in the May 2010 issue of the EURORDIS newsletter.