The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community
© Aymé and Rodwell; licensee BioMed Central Ltd. 2014
Received: 3 February 2014
Accepted: 18 February 2014
Published: 28 February 2014
The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International levels in the field of rare diseases. The three-year mandate of the EUCERD drew to a close in July 2013 with an impressive record. The EUCERD has laid down the foundations for future work so as to continue to advance in the key areas that have been identified as of interest for the rare disease community at large: centres of expertise, European Reference Networks, patient registries and databases, newborn screening, and indicators for national rare disease plans/strategies. The work of the Committee should now be continued by the newly formed European Commission Expert Group on Rare Diseases.
KeywordsEuropean policy Recommendations National plans/strategies for rare diseases Centres of expertise Access to orphan medicinal products Patient registries European reference networks
Centres of expertise : the key stone of national plans and strategies for rare diseases and a step towards European networks
The first area of the Council Recommendation to be dealt with by the Committee concerned the centres of expertise for rare diseases and European Reference Networks for rare diseases. The identification, and creation, of centres of expertise for rare disease is a key element of the Council Recommendation and central to national rare disease plans/strategies. There are around 6 000 rare diseases and most are unknown to healthcare professionals so rare diseases patients suffer from not knowing where to consult. To overcome this, some Member States have established centres specialised in some rare diseases/groups of rare diseases which have proven to be very efficient in providing quality of care for patients. The networking of these centres could lead to the gathering of the scarce expertise concerning these diseases at European level, in order to ensure equal access to accurate information, appropriate and timely diagnosis and high quality care for rare disease patients.
Key facts and state of play in European countries in December 2013: Centres of expertise for rare diseases (CE RD)1
1 European country with designated CE RD in the scope of a national plan for rare diseases
5 European countries with officially designated CE RD
15 European countries with non-designated CE RD acknowledged by health authorities to varying degrees
9 European countries with CE RD recognised by reputation only
16 European countries with plans to designate CE RD in their national plans/strategies for RD
EUCERD Recommendations on quality criteria for centres of expertise for rare diseases in Member States adopted on 24 October 2011
Consensus on 45 recommendations covering the mission and scope, criteria for designation, process of designation and evaluation, and European dimension of CE RD
European Reference Networks for rare diseases: the European dimension of health care pathways
Key facts : European Reference Networks (ERNs) for rare diseases
Rare diseases cited in Directive on the application of patients’ rights in cross border healthcare (2011/24/EU) (9 March 2011) as priority area for ERNs
EUCERD Recommendations on European Reference Networks for Rare Diseases adopted on 31 January 2013
Consensus on 21 recommendations covering mission, vision and scope, governance, composition, funding and evaluation, and designation of ERNs for Rare Diseases
Patient registration and data collection: Gathering information at European level on rare diseases
Patient registries are a key aspect of national plans/strategies for rare diseases and are cited as a crucial source of information on rare diseases, in terms of basic and clinical research as well for epidemiological and public health purposes, to be supported at national and European level in the Council Recommendation. Patient registries are a key tool for gathering the scarce knowledge relevant to rare diseases so as to improve the understanding of these conditions and the treatment available to patients, as well as the planning of healthcare services for these diseases. Over 640 rare disease registries exist in Europe according to data extracted from Orphanet  in December 2013, with the majority concerning diseases of groups of diseases for which there is an innovative treatment either in development or already on the market. At the national level many countries are considering in the scope of their national plans/strategies the best way to collect data relative to rare disease patients, and at the Community level the European Commission is in the process of establishing a European Platform for Rare Disease Registration. The EUCERD thus decided to build on the previous work of the RDTF on patient registries to elaborate a set of Recommendations on Rare Disease Patient Registration and Data Collection with the aim of setting down the consensus reached to date and to guide all stakeholders at this crucial moment in the collective reflection on the topic.
Key facts and state of play in December 2013: Rare disease patient registration and data collection
Around 640 rare disease registries in Europe1
Majority of registries are academic
Some RD have more than one registry, many RD have no registry
EUCERD Core Recommendations on Rare Disease Patient Registration and Data Collection adopted on 5 June 2013
Consensus on 6 main areas : international operability, sources of data, collection of data, good practices, use of data for regulatory purposes, and sustainability
Steps towards better and timely access to orphan medicinal products for rare diseases : Improving the Clinical Added Value of Orphan Medicinal Products information flow
Key facts and state of play in December 2013: The clinical added value of Orphan Medicinal Products1
1234 positive opinions for orphan product designation from 1798 applications submitted since 2000 at EU level and a total of 1219 European Commission designations
85 orphan designated products have received marketing authorisation by end of 2013 at EU level
EUCERD Recommendation on Improving Informed Decisions Based on the Clinical Added Value of Orphan Medicinal Products Information Flow adopted in September 2012
Recommendation proposes four key time points for information sharing to improve the pricing and reimbursement decision process
Indicators for rare disease national plans/strategies : Monitoring the progress made in national policy
To provide Member States elaborating their national plans/strategies for rare diseases with guidance concerning indicators to help monitor the elaboration and implementation of these plans at European level, the EUCERD has also adopted Recommendations on core indicators for rare disease national plans/strategies (2013) . Indicators are vital tools for assessing the outcomes and success of these measures. These indicators were also intended to provide data for the European Commission’s report on the implementation of the Commission Communication and Council Recommendation and to serve as a basis for indicators at national level. Although each country will have to tailor indicators to suit the measures foreseen in their national plan/strategy, the Recommendations may serve as a starting point for some countries. They will be reviewed in time to reflect the experience of Member States in the monitoring of their plans/strategies.
Newborn screening: A definition of possible areas of European collaboration
The EUCERD also decided to investigate areas of potential collaboration at European level in the field of newborn screening, at the request of the European Commission following a Tender report on the subject . Currently, a great heterogeneity of practices can be observed from country to country in the EU and there is no systematic approach to this topic at EU level : this considered, the EUCERD took its cue from the Council Recommendation encourages that Member States “develop European guidelines […] population screening, while respecting national decisions and competences”. After examining the results of the Tender study, the Committee was able to identify a number of possible topics for collaboration which respected the principle of subsidarity and after discussion on the subject at Committee level an Opinion  was adopted in July 2013. It was decided to not prioritise these elements, which were submitted as an Opinion to the European Commission, the Member States and third parties for further consideration. This document is an important first step in this complicated area.
The EUCERD State of the Art Report: Monitoring progress and reporting on initiatives
The EUCERD has played an important role in the monitoring and dissemination of the results of measures taken at Community and national level in the field of rare diseases, both through the annual report on the State of the Art of Rare Disease Activities in Europe and the bi-monthly newsletter of the EUCERD OrphaNews Europe. The State of the Art report is a comprehensive document updated each year which presents the current state of activities at both European and Member State level in a range of different areas of the rare disease field, such as rare disease national plans/strategies, expert services, patient organisations, research and orphan medicinal product policy. The first volume of the report presents an overview of the field which presents to the general public in an easily accessible manner the achievements to date and challenges for the future, whereas the following volumes present the environment in greater detail. The report is also available in country-specific volumes for reuse at national level to inform stakeholders of the state of play.
Both the report and the newsletter are supported by the EUCERD Joint Action and entrusted to the Scientific Secretariat of the EUCERD, with valuable contributions and input from members of the Committee. Notably, the information collected for the OrphaNews Europe newsletter and State of Art report have contributed to the preparation of the Commission reports on the implementation of the Commission Communication and Council Recommendation, currently underway. This report from the Commission will help determine what has been achieved to date and the measures to be taken in the future in the field of rare diseases at European level.
Promoting cooperation across Europe and beyond
The EUCERD was also charged with assisting the Commission in international cooperation on matters relating to rare diseases. To this end, the EUCERD has welcomed representatives of third countries, such as Japan, to its meetings to partake in discussions and share experiences. The EUCERD has also promoted liaison with other groups implicated in the field of rare diseases (e.g. IRDiRC , EUnetHTA , European Partnership Action Against Cancer , PARENT Joint Action  by inviting representatives to their meetings and including them in expert workshops, as well as participating in their meetings and workshops, to ensure that relevant experience is shared across different groups and fields. The EUCERD Joint Action is also working hard to liaise with other EC-funded projects implicated in the field of rare diseases to ensure that results are disseminated and duplication of efforts are avoided.
The unique forum of stakeholders provided by the EUCERD has been a key factor in the success of the Committee in advancing discussions on important topics for the rare disease community. The Members have shown dedication and perseverance over the past three years, helping the Committee to achieve much in a relatively short space of time. Great advances have been made in developing concepts, reaching consensus and establishing recommendations for a number of key topics which will be at the centre of national and European rare disease policy in the coming years. The successful collaboration and outputs of the EUCERD is a source of inspiration for countries and regions throughout the world. The EUCERD has laid down the foundations, but much more work is needed in the future as we move from the stage of elaboration to the stage of implementation of these initiatives and policies. It is hoped that the European Commission Expert Group on Rare Diseases, which replaces the EUCERD as of January 2014, will be as efficient and productive as the former Committee in their new mandate so as to not lose the momentum gathered under the EUCERD concerning the main questions and problems faced by the rare disease community.
The authors would like to thank all the Members of the EUCERD for their implication in the work described in this article. The work of the Scientific Secretariat of the European Union Committee of Experts on Rare Diseases was financed by two consecutive Joint Actions between Member States from the European Commission’s Executive Agency for Health and Consumers: the Scientific Secretariat of the European Union Committee of Rare Diseases Joint Action N° 2008 22 91 and European Union Committee of Rare Diseases Joint Action: Working for Rare Diseases N° 2011 22 01.
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