Charlotte Rodwell

Ségolène Aymé

Orphanet Journal of Rare Diseases

Springer - Publisher Connector

POSTER PRESENTATION Open Access
Evolution of national and European policies in
the field of rare diseases and their impact over
the past five years
Charlotte Rodwell*, Ségolène Aymé
From 7th European Conference on Rare Diseases and Orphan Products (ECRD 2014)
The 2009 Council Recommendation on an Action in the
Field of Rare Diseases (2009/C 151/02) [1] encouraged
Member States to elaborate a national plan or strategy
for rare diseases before the end of 2013. One of the
principal tasks of the European Union Committee of
Experts on Rare Diseases (EUCERD) [2], through its
Scientific Secretariat, was to analyse the results of the
actions cited in the Recommendation, notably through
the production of the annual report on the ‘State of the
Art of Rare Disease Activities in Europe’ [3]. The 2014
edition of the report considers the impact of European
policy and national plans/strategies (Figure 1) on the
organisation of health care and services for patients with
rare diseases, including access to diagnosis and treat-
ment, as well as considering progress in the field of
registries, rare disease research initiatives, the genetic
testing offer, access to information on rare diseases,
patient organisations, and specialised social services. In
terms of national plans and strategies for rare diseases,
by end 2013, the deadline to elaborate national plans/
strategies for rare diseases fixed by the Council Recom-
mendation, most EU Member States had submitted
EUCERD Scientific Secretariat, INSERM, US14, Orphanet, France
Figure 1 Emergence of concepts and initiatives surrounding rare diseases in Europe (December 2013)
Rodwell and Aymé Orphanet Journal of Rare Diseases 2014, 9(Suppl 1):P13
http://www.ojrd.com/content/9/S1/P13
© 2014 Rodwell and Aymé; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative
Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
a plan/strategy to their national authorities and sixteen
countries have adopted a plan/strategy (Figure 2).
France and Spain have implemented and assessed their
first plan. As their number one priority, most countries
plan to identify and design centres of expertise for rare
diseases. Many of these plans/strategies, however, have
no dedicated budget for their actions, a result of the
unfavourable economic context which may hinder the
implementation of defined measures. The next challenge
for EU Member States will be to effectively implement
and assess these plans, which the new Commission
Expert Group on Rare Diseases [4] will follow closely.
Research in the field of rare diseases has been boosted
in recent years due to European and international initia-
tives, such as European research projects funded via the
DG Research and Innovation framework programmes
and the E-Rare ERA-NET [5] as well as the creation of
the International Rare Disease Research Consortium
(IRDIRC) [6]. The Orphanet database [7] continues to
expand and provides data collected in 37 European and
surrounding countries with partner teams in Canada
and Australia and negotiations ongoing in other world
regions. Nearly all countries now have a national
alliance for rare diseases ensuring that the voice of rare
diseases, carried by Eurordis [8] at the European level, is
heard.
Acknowledgements
This work has been supported by the EUCERD Joint Action: Working for Rare
Diseases (N°2011 22 01) financed by the European Commission within the
European Union’s Second Programme of Community Action in the Field of
Health.
Published: 11 November 2014
References
1. Commission Decision establishing a European Union Committee of
Experts on Rare Diseases (2009/872/EC). 2009, (2009/872/EC) [http://eur-
lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2009:315:0018:0021:EN:PDF].
2. European Union Committee of Experts on Rare Diseases [[http://www.
eucerd.eu]]. .
3. Aymé S, European Union Committee of Experts on Rare Diseases: Report
on the State of the Art of Rare Disease Activities in Europe.C. Rodwell ,
July 2010, July 2011, July 2012, July 2013, July 2014, [http://www.eucerd.eu/
?page_id=163#StateArt].
4. Commission Expert Group on Rare Diseases of Experts on Rare Diseases
[[http://ec.europa.eu/health/rare_diseases/expert_group/index_en.htm]]. .
5. E-Rare [[http://www.erare.eu]]. .
6. International Rare Diseases Research Consortium [[http://www.irdirc.org]]. .
7. Orphanet [[http://www.orpha.net]]. .
8. Eurordis, European Organisation for Rare Diseases [[http://www.eurordis.
org]]. .
doi:10.1186/1750-1172-9-S1-P13
Cite this article as: Rodwell and Aymé: Evolution of national and
European policies in the field of rare diseases and their impact over the
past five years. Orphanet Journal of Rare Diseases 2014 9(Suppl 1):P13.
Submit your next manuscript to BioMed Central
and take full advantage of: 
• Convenient online submission
• Thorough peer review
• No space constraints or color figure charges
• Immediate publication on acceptance
• Inclusion in PubMed, CAS, Scopus and Google Scholar
• Research which is freely available for redistribution
Submit your manuscript at 
www.biomedcentral.com/submit
Figure 2 Stages of development of national plans or strategies for rare diseases in EU MS in December 2013
Rodwell and Aymé Orphanet Journal of Rare Diseases 2014, 9(Suppl 1):P13
http://www.ojrd.com/content/9/S1/P13
Page 2 of 2


Evolution of national and European policies in the field of rare diseases and their impact over the past five years

file:///data/core-remote/dit/data/Springer-OA/pdf/eee/aHR0cDovL2xpbmsuc3ByaW5nZXIuY29tLzEwLjExODYvMTc1MC0xMTcyLTktUzEtUDEzLnBkZg==.pdf

Evolution of national and European policies in the field of rare diseases and their impact over the past five years

Abstract

Similar works

Full text

Available Versions

Springer - Publisher Connector

Springer - Publisher Connector