ARCHIVE PAGE OF WWW.EUCERD.EU, WEBSITE OF THE
FORMER EUROPEAN EXPERT GROUPS ON RARE DISEASES & EUCERD JOINT ACTION
HISTORY OF EUROPEAN-LEVEL RARE DISEASE
MULTSTAKEHOLDER GROUPS
INTRODUCTION
To
date, three groups of stakeholders in the field of rare diseases have been
successively brought together by the European Commission to provide expert
advice in this area to their services: The Rare Diseases Task Force
(2004-2009), The European Union Committee of Experts on Rare Diseases
(2010-2013) and The EC Expert Group on Rare Diseases (2013-2016). From 2018 issues related to rare diseases are discussed at
the European level by the Steering Group on Health
Promotion, Disease Prevention and Management of Non-Communicable Diseases, whilst questions related to
European Reference Networks (ERNs) for Rare Diseases are dealt with by the Board of Member States of the ERNs.
This
page is an archive of the EUCERD and ECEGRD’s activities and information
concerning the work of the EUCERD Joint Action (N° 2011 22 01, co-funded by the
EU Health Programme).
The
final meeting of the EUCERD Joint Action, presenting the outcomes and future
perspectives was held on 15th September 2015 in Luxembourg and the Joint Action
ended at the end of 2015. The deliverables and outcomes are available on this
page.
The
support to the elaboration of policies in the field of rare diseases and
improvement of the codification of rare diseases provided by the EUCERD Joint
Action continued in the scope of RD-Action,
a Joint Action co-funded via the 3rd EU Health Programme for the years
2015-2018.
HISTORY OF EUROPEAN-LEVEL RARE DISEASE MULTSTAKEHOLDER GROUPS
To date, three groups of stakeholders in the field
of rare diseases have been brought together successively by the European
Commission to provide expert advice in this area to their services: The Rare
Diseases Task Force (2004-2009), The European Union Committee of Experts on
Rare Diseases (2010-2013) and The EC Expert Group on Rare Diseases (2013-2016).
The Rare Diseases Task Force (2004-2009)
The Rare Diseases Task Force was established in
January 2004 via Commission Decision 2004/192/EC of 25 February 2004 on the
programme of Community action in the field of public health (2003 to 2008). The
RDTF was replaced by the European Union Committee of Experts on Rare Diseases.
The members of the RDTF included current and former
rare disease research project leaders, elected experts from Member States, and
representatives from relevant international organisations (DG Research, DG
Enterprise, EuroStat, EMA, WHO, OECD). Orphanet director Ségolène Aymé was the chair person.
Over 6 years, the RDTF played a pivotal role
instigating key collaborative rare diseases initiatives in Europe. The RDTF met
12 times over the course of its mandate, and many key topics were brought
forward for discussion in relation to rare disease research, policy and
actions. The scientific activity of the RDTF was funded from 2005 onwards,
which allowed the publication of OrphaNews Europe,
the official newsletter of the Rare Diseases Task Force. Published every two
weeks, this newsletter has served as a vital communication tool, bringing news
on policy developments, medical and scientific findings, orphan drugs, research
projects, patient activities, events and new relevant publications to the
global rare disease community – including patients, healthcare professionals,
researchers, industry professionals and health policy makers.
Various working groups were identified and
constituted to meet the specific objectives of the RDTF: this included the
Standards of Care working group, the Public Health Indicators working group,
and the Coding, Classification and Data Confidentiality Group. These working
groups produced various reports, recommendations and scoping papers.
One of the most notable contributions of the RDTF
was its pivotal role between June and October 2007 in drafting the
Communication Rare Diseases: Europe’s Challenges, in close collaboration with
the European Commission. The process ultimately culminated in the adoption of
the European Council Recommendation on an Action in the Field of Rare Diseases
in June 2009.
The European Union Committee of Experts on Rare
Diseases replaced the European Commission’s Rare Diseases Task Force (RDTF) in
2010.
The European Union Committee of Experts on Rare
Diseases (2010-2013)
The European Union Committee of Experts on Rare
Diseases was formally established via the European
Commission Decision of 30 November 2009 (2009/872/EC). This committee was charged with aiding the European Commission with
the preparation and implementation of Community activities in the field of rare
diseases, in cooperation and consultation with the specialised bodies in Member
States, the relevant European authorities in the fields of research and public
health action and other relevant stakeholders acting in the field.
The 51-member committee with representatives from
all Member States and stakeholder groups was chaired by Ségolène
Aymé and co-chaired by Kate Bushby, Yann Le Cam and
Helena Kääriäinen. The EUCERD met 3 times a year and
organised a number of workshops supported by the EUCERD Joint Action.
Over the 3-year mandate of the EUCERD, 5 recommendations
were adopted in the field of rare diseases concentrating on centres of
expertise, European Reference Networks, the clinical added value of orphan
medicinal products information flow, registries & data collection, and
indicators for national plans. An Opinion on potential areas of collaboration
at European level in the field of new born screening was also issued.
The EUCERD was a highly successful forum for
exchange of experience and cooperation between stakeholders appreciated greatly
by the rare disease community. The EUCERD was replaced at the end of its
mandate by the European Commission Expert Group on Rare Diseases from 2014
onwards.
An
editorial documenting the achievements of the EUCERD entitled “The European Union Committee of
Experts on Rare Diseases: three productive years at the service of the rare
disease community” was published by the Orphanet Journal of
Rare Diseases in February 2014 to mark Rare Disease Day.
The European Commission Expert Group on Rare
Diseases (2014 onwards)
The European Commission Expert Group on Rare
Diseases, established via Commission Decision 2013/C 219/04 of 30 July 2013,
was active until 2016.
This group included representatives from all the
Member States plus nominated experts, representatives of patient organisations,
patients’ organisations in the field of rare diseases, European associations of
producers of products or service providers relevant for patients affected by
rare diseases, and European professional associations or scientific societies
acting in the field of rare diseases.
After the
Expert Group
From 2018 issues related to rare diseases are discussed at the European
level by the Steering Group on
Health Promotion, Disease Prevention and Management of Non-Communicable
Diseases, whilst questions related to European Reference Networks (ERNs) for Rare
Diseases are dealt with by the Board of Member
States of the ERNs.
RECOMMENDATIONS
European
Committee of Experts on Rare Diseases (EUCERD)
The
EUCERD issued the following 5 recommendations on centres of expertise, European
Reference Networks, registries, indicators for national plans and improving
informed decisions based on the clinical added value of orphan medicinal
products:
EUCERD
Recommendations on Rare Disease Patient Registration and Data Collection (5
June 2013)
·
Powerpoint presentation
of the Recommendation (June 2013)
EUCERD
Recommendations on Core Indicators for Rare Disease National Plans/ Strategies (6 June
2013)
·
Powerpoint presentation of the Recommendation (January
2014)
EUCERD
Recommendations on European Reference Networks for Rare Diseases (31 January
2013) and Addendum (10
June 2015)
·
Powerpoint presentation of the Recommendation (January
2013)
·
Powerpoint presentation of the Recommendation (September
2012)
·
Translations: BG
– Bulgarian, CS
– Czech, DA
– Danish, DE
– German, EL
– Greek, ES
– Spanish, ET
– Estonian, FI
– Finnish, FR
– French, HU
– Hungarian, IT
– Italian, LT
– Lithuanian, LV
– Latvian, MT
– Maltese, NL
– Dutch, PL
– Polish, PT
– Portuguese, RO
– Romanian, SK
– Slovakian, SL
– Slovenian, SV
– Swedish
·
Powerpoint presentation of the
Recommendations (October 2011)
Opinions
The
EUCERD also issued the following Opinion.
EUCERD
Opinion on Potential Areas of European Collaboration in the field of New Born Screening
– July 2013
EC Expert Group on Rare Diseases
The
EUCERD issued the following recommendation:
- Commission Expert Group on Rare Diseases –
Recommendation on Ways to Improve Codification of Rare Diseases (November
2014)
- Commission Expert Group on Rare Diseases –
Recommendation on cross-border genetic testing of rare diseases in the
European Union (19 November 2015)
- Commission Expert Group Recommendations to Support the
Incorporation of Rare Diseases into Social Services and Policies
(April 2016)
REPORTS
The
European Union Committee of Experts on Rare Diseases and EC Rare Disease Task
Force, and the EUCERD Joint Action (N° 2011 22 01), the have published the
reports on the following subjects:
- State
of the art of rare disease activities in Europe
- National
Plans/Strategies for Rare Diseases
- Centres
of expertise
- European
Reference Networks
- Registries
- Health
indicators
- Rare
diseases in International nomenclatures
- Genetic
testing
- Orphan
medicinal products
- Specialised
Social Services
Annual reports on the state of the
art of rare diseases activities in Europe
2014
Edition –
arising from the EUCERD Joint Action N°2011 22 01
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe –
Part I: Overview of Rare Disease Activities in Europe
– July 2014
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe -Part
II: Key developments in the field of rare diseases in Europe in 2013
– July 2014
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe -Part
III: European Commission activities in the field of rare diseases
– July 2014
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe -Part
IV: European Medicines Agency activities and other European activities in
the field of rare diseases –
July 2014
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe -Part
V: Activities of European Member States and other European countries in
the field of rare diseases –
July 2014
An
article based on this work has been published: Charlotte Rodwell, Ségolène Aymé Rare disease
policies to improve care for patients in Europe, Biochim Biophys Acta. 2015 Feb
25. pii: S0925-4439(15)00059-9. (Open Access)
2013
Edition – arising from the EUCERD Joint Action N°2011 22 01
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe –
Part I: Overview of Rare Disease Activities in Europe
– July 2013
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe -Part
II: Key developments in the field of rare diseases in Europe in 2012
– July 2013
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe -Part
III: European Commission activities in the field of rare diseases
– July 2013
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe -Part
IV: European Medicines Agency activities and other European activities in
the field of rare diseases –
July 2013
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe -Part
V: Activities of European Member States and other European countries in
the field of rare diseases –
July 2013
2012
Edition – arising from the EUCERD Joint Action N°2011 22 01
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part I: Overview of
Rare Disease Activities in Europe –
July 2012
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part II: Key
developments in the field of rare diseases in Europe in 2011
– July 2012
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part III: European Commission
activities in the field of rare diseases –
July 2012
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part IV: European
Medicines Agency activities and other European activities in the field of
rare diseases – July 2012
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part V: Activities of
European Member States and other European countries in the field of rare
diseases – July 2012
2011
Edition
- EUCERD
Report: 2011 Report on the State of the Art of Rare Diseases Activities in
Europe – Part I: Overview of Rare Disease Activities in Europe and Key
Developments in 2010 – July 2011
- EUCERD Report: 2011 Report on the State
of the Art of Rare Diseases Activities in Europe – Part II: European
Commission and other European Activities –
July 2011
- EUCERD Report: 2011 Report on the State
of the Art of Rare Diseases Activities in Europe – Part III: Activities in
EU Member States and other European Countries –
July 2011
2010
Edition
- EUCERD Report: 2009 Report on
Initiatives and Incentives in the Field of Rare Diseases of the EUCERD –
July 2010
National Plans/Strategies for Rare
Diseases
- National
conference reports:
– arising
from the EUCERD Joint Action N°2011 22 01
- EUCERD
Joint Action Workshop Report: National plans/strategies for rare diseases –
May 2014 – arising
from the EUCERD Joint Action N°2011 22 01
- EUCERD
Joint Action Workshop: Key indicators for national plans/strategies – March
2013 – arising
from the EUCERD Joint Action N°2011 22 01
- EUCERD
Joint Action Workshop: Inception Workshop on National Planning for Rare
Diseases – September 2012 – arising
from the EUCERD Joint Action N°2011 22 01
Centres of expertise &
European Reference Networks
- Workshop Report: From Centres of
Expertise to European Reference Networks – 11
& 12 May 2015, Madrid – organised through the EUCERD Joint Action
N° 2011 22 01
- EUCERD
Joint Action Summary
workpackage report: Centres of expertise and
quality of care for rare diseases
(January 2015)
- EUCERD
Joint Action Workshop Report: ERNs and structural funds for Rare Diseases,
28-29 October 2014, Rome – arising from the EUCERD Joint Action
N°2011 22 01
- EUCERD
Joint Action Workshop Report: Preliminary outcomes of the EJA survey on
centres of expertise, April 2014 – arising
from the EUCERD Joint Action N°2011 22 01
- EUCERD
Joint Action Workshop Report: European Reference Networks (ERNs)
– September 2012 – arising from the EUCERD Joint Action
N°2011 22 01
- EUCERD Report: Preliminary analysis of
the experiences and outcomes of pilot European Reference Networks for rare
diseases – May 2011
- EUCERD
Workshop Report: Centres of expertise for rare diseases and European
collaboration between centres of expertise for rare diseases –
March 2011
- EUCERD
Workshop Report : Centres of Expertise/European
Reference Networks for Rare Diseases –
December 2010
- RDTF
Report: European Reference Networks in the field of Rare Diseases: State
of the art and Future Directions – July 2008
- RDTF Report: Centres of Reference
for Rare Diseases in Europe – State-of-the-art in 2006 and Recommendations
of the Rare Diseases Task Force –
September 2006
- RDTF
Report: Overview of Current Centres of Reference on rare diseases in the
EU – September 2005
Registries and Health Indicators
- EUCERD Joint Action & EPIRARE
Workshop Report: Registries for rare diseases and the European registry
platform, April 2013 –
arising from the EUCERD Joint Action N°2011 22 01
- EUCERD Joint Action Workshop
Report: Rare diseases registration,
November 2012 – arising from the EUCERD Joint Action
N°2011 22 01
- EUCERD/EMA
Workshop Report: Towards a public-private partnership for registries in the
field of rare diseases (4 October 2011)
- EUCERD Report: Health indicators
for rare diseases II – Conceptual framework for monitoring quality of care
– September 2011
- RDTF Report: Health indicators
for rare diseases I – Conceptual framework and development of indicators
from existing sources – April 2010
·
RDTF
Report: Patient Registries for Rare Diseases – April
2009, Update June 2011
- RDTF Report: Health Indicators
for Rare Diseases: State of the art and future directions
– June 2008
Rare diseases in international
nomenclatures
- Summary report of the workshop on
cross-referencing of terminologies (27-28 September 2012)
– arising
from the EUCERD Joint Action N°2011 22 01 and Eurogentest
2
- Summary
report of the workshop on Orphacodes in health
information systems (18 March 2014)
– –
arising from the EUCERD Joint Action N°2011 22 01
- Summary
report of the workshop on Orphacodes in health information
systems, (1-2 October 2014, Ispra) –
organised
by the EC Joint Research Centre and arising from the EUCERD Joint Action
N°2011 22 01
Genetic Testing
- Workshop
Report: Cross-Border Genetic Testing in the European Union,
15-16 December 2014, Newcastle – organised through the EUCERD Joint Action
N°2011 22 01
- Workshop Report: The genetic
testing offer in the EU,
19-20 November 2012, Ispra – organised by the EC
Joint Research Centre
Orphan Medicinal Products
- RDTF
Report: How Many Drugs for How Many Patients? Recommendations of the Rare
Diseases Task Force – July 2007
Specialised Social Services
- EUCERD
Joint Action Background document: EUCERD
Joint Action: Rare Diseases – Addressing the Need for Specialised Social
Services & Integration into Social Policies
(November 2012)– arising from the EUCERD Joint Action N°2011 22 01
- EUCERD
Joint Action Workshop report: Guiding principles for Specialised Social
Services (December
2012)– arising from the EUCERD Joint Action N°2011 22 01
- EUCERD
Joint Action: Guiding Principles for Specialised Social Services
(April 2013)– arising from the EUCERD Joint Action N°2011 22 01
- EUCERD Joint Action Workshop
report: Training for social services providers (October
2013) – arising from the EUCERD Joint Action N°2011 22 01
- EUCERD
Joint Action Guiding Principles on Training for Social Services Providers (April
2014) – arising from the EUCERD Joint Action N°2011 22 01
- EUCERD
Joint Action: Examples of Training Programmes for Social Service Providers–
arising from the EUCERD Joint Action N°2011 22 01
- EUCERD Joint Action Workshop
Report: Guiding principles for social care (9-10
October 2014)–
arising from the EUCERD Joint Action N°2011 22 01
MEETING REPORTS
EUCERD MEETING REPORTS
The
public summary reports of previous EUCERD meetings can be accessed here:
- 8th
Meeting of the EUCERD – Luxembourg, 5-6 June 2013
- 7th Meeting of the EUCERD – Luxembourg,
31 January – 1 February 2013
- 6th
Meeting of the EUCERD – Luxembourg, 14-15 November 2012
- 5th
Meeting of the EUCERD – Luxembourg, 20-21 June 2012
- 4th
Meeting of the EUCERD – Luxembourg, 26-27 January 2012
- 3rd
Meeting of the EUCERD – Luxembourg, 24-25 October 2011
- 2nd
Meeting of the EUCERD – Luxembourg, 22-23 March 2011
- 1st
Meeting of the EUCERD – Luxembourg, 9-10 December 2010
RDTF MEETING REPORTS
The
Rare Diseases Task Force held two meetings per year at the European Commission
in Luxembourg from 2004 to 2009.
·
Report on the 1st Rare Diseases Task Force meeting – 20/01/2004
·
Report
on the 2nd Rare Diseases Task Force meeting – 14/10/2004
·
Report on the
3rd Rare Diseases Task Force meeting – 20/06/2005
·
Report
on the 4th Rare Diseases Task Force meeting – 14/12/2005
·
Report on the
5th Rare Diseases Task Force meeting – 08/06/2006
·
Report on the 6th Rare Diseases
Task Force meeting – 14/12/2006
·
Report on the 7th Rare Diseases Task Force meeting – 20/06/2007
·
Report on the 8th Rare Diseases Task Force meeting – 23/10/2007
·
Report on the
9th Rare Diseases Task Force meeting – 28/02/2008
·
Report on the
10th Rare Diseases Task Force meeting – 13/11/2008
·
Report on the
11th Rare Diseases Task Force meeting – 30/04/2009
·
Report on the
12th Rare Diseases Task Force meeting – 23/10/2009
EXPERT WORKSHOPS
National plans/strategies for rare diseases
- European Structural Funds for
Rare Disease Plans, 29-31 October 2014, Rome –organised through the EUCERD
Joint Action N°2011 22 01
- EUCERD Joint Action Workshop
Report: National plans/strategies for rare diseases – May 2014 – arising
from the EUCERD Joint Action N°2011 22 01
- EUCERD Joint Action Workshop: Key
indicators for national plans/strategies – March 2013 – arising
from the EUCERD Joint Action N°2011 22 01
- EUCERD Joint Action Workshop:
Inception Workshop on National Planning for Rare Diseases – September 2012 – arising
from the EUCERD Joint Action N°2011 22 01
International
nomenclatures
- Workshop on Orpha codes in health
information systems, 1-2 October 2014, Ispra –organised by the EC Joint
Research Centre with the scientific support of the EJA
- Workshop on the use of Orphacodes in health information systems, 18 March
2014, Paris –
organised
through the EUCERD Joint Action N° 2011 22 01
- Workshop on cross-referencing of
terminologies,
27-28 September 2012, Paris – organised through the EUCERD Joint Action
N° 2011 22 01 and Eurogentest 2
- Technical Workshop on the
Classification of Genetic Diseases, 1 December 2011, Luxembourg – organised
by the European Commission in collaboration with the EUCERD & WHO
Centres of
expertise and European Reference Networks
- Realising European Reference
Networks for Rare Diseases: a preparatory workshop for the RD field, 1-2
July 2015, Brussels – organised through the EUCERD Joint Action
N°2011 22 01
- EUCERD Joint Action Workshop:
From Centres of Expertise to European Reference Network – 11 & 12 May 2015, Madrid –
organised
through the EUCERD Joint Action N° 2011 22 01
- EUCERD Joint Action Workshop: ERNs
and structural funds for Rare Diseases,, 28-29 October 2014, Rome – organised
through the EUCERD Joint Action N°2011 22 01
- EUCERD Joint Action Workshop:
Preliminary outcomes of the EJA survey on centres of expertisee, (31 March-1 April 2014, Madrid)
–
organised through the EUCERD Joint Action N°2011 22 01
- EUCERD Workshop Centres of
expertise for rare diseases and European collaboration between centres of
expertise for rare diseases , 25 & 26 September 2012, Newcastle –
organised
through the EUCERD Joint Action N°2011 22 01
- Workshop
on EUCERD Recommendations on Quality Criteria for Centres of Expertise in
the field of Rare Diseases in Member States, 8 September 2011, Luxembourg
– organised
by the European Commission in collaboration with the EUCERD
- EUCERD Workshop on centres of
expertise for rare diseases and European collaboration between centres of
expertise for rare diseases, Luxembourg, 21 & 22 March 2011 – organised
through the RDTF/EUCERD Scientific Secretariat Joint Action N° 2008 22 91
- EUCERD Workshop: Centres of
Expertise/European Reference Networks for Rare Diseasess, Luxembourg, 8 December & 9
December 2010 – organised through the RDTF/EUCERD
Scientific Secretariat Joint Action N° 2008 22 91
Registries
- Workshop
on registries for rare diseases and the European registry platform, 22-23 April 2013, Paris – organised
through the EPIRARE project & EUCERD Joint Action N°2011 22 01
- Workshop on rare disease registration, 13 November 2012, Luxembourg – organised
through the EUCERD Joint Action N°2011 22 01
- EUCERD/EMA Workshop: Towards a
public-private partnership for registries in the field of RD, 4 October 2011, London – organised
through the RDTF/EUCERD Scientific Secretariat Joint Action N° 2008 22 91
with
the collaboration of the EMA
Health
indicators
- Workshop
on Health Indicators for Rare Diseases, Paris, France, 25 November 2010
– organised
through the RDTF/EUCERD Scientific Secretariat Joint Action N° 2008 22 91
Social
Services for Rare Diseases
- EUCERD Joint Action Workshop: Guiding
principles for social care 9-10 October 2014, Frambu
Centre, Norway – organised through the EUCERD Joint
Action N°2011 22 01
- EUCERD Joint Action Workshop:
Training for social services providers, 10-11 October 2013, Copenhagen –
organised through the EUCERD Joint Action N°2011 22 01
- EUCERD Joint Action Workshop: Specialised Social Services for RD, 6-7 December 2012, Zalau, Romania – organised through the EUCERD Joint
Action N°2011 22 01
Others
·
EUCERD Joint Action Workshop:
Cross-Border Genetic Testing in the European Union 15-16 December 2014, Newcastle –organised
through the EUCERD Joint Action N°2011 22 01
·
Workshop: The genetic testing offer in
the EUEuropean workshop on the genetic testing offer
in Europe,
Ispra, 19-20 November 2012 – organised by
the EC Joint Research Centre
·
EUCERD/Eurobiomed Event – Rare2011 Conference European Day, 4 November 2011, Montpellier, France
– organised
through the RDTF/EUCERD Scientific Secretariat Joint Action N° 2008 22 91
with Eurobiomed
·
Workshop on monitoring and evaluation
of health projects in the field of rare diseases – 27 November 2014, Lisbon – organised through
the EUCERD Joint Action N°2011 22 01
EUCERD JOINT ACTION
The
EUCERD Joint Action: Working for Rare Diseases (N° 2011 22 01) was co-funded by
the European Commission (Executive Agency for Health and Consumers, now CHAFEA)
in the context of the European Union’s Second Programme of Community
Action in the field of Health. It started on 1 March 2012 and ended in 2015,
supporting the activities and mandate of the European Union Committee of
Experts on Rare Diseases until the end of 2013 when the EUCERD ended its
mandate. From 2014 it supported the activities of the European
Commission Expert Group on Rare Diseases which
replaced the EUCERD.
This
Joint Action was led by Prof. Kate Bushby, former Vice-Chair of the EUCERD
and member of the Expert Group.
The
EUCERD was mandated to assist the EC in formulating and implementing the
Community’s activities in the field of rare diseases, to foster exchanges of
relevant experience, policies and practices between the Member States and
stakeholders. Rare diseases are a priority area for action in the Public Health
Programme (2008-2013). These activities have been defined in the Communication
of the European Commission, entitled “Rare Diseases: Europe’s challenge” (11
November 2008) and the Council Recommendation on an action in the field of rare
diseases (8 June 2009).
Specifically,
this Joint Action addressed the following priority areas of the Council
Recommendation:
- Enhancing
the visibility and recognition of RD;
- Contributing
to the development and dissemination of knowledge on RD, from specialised
research, through to the support of the healthcare professionals and the
empowerment of patients;
- Contributing
to improvements in access to quality services and care, from diagnosis,
through to care and social support and innovative therapies.
To
achieve its aims, the Joint Action built on the achievements of previous European
initiatives in the field, such as the EC Rare Disease Task
Force, Orphanet, the Europlan
project, and the outputs of and the several rare disease networks that have
received EU funding over the past years.
This
Joint Action comprised five main areas of work:
- the
implementation of plans and strategies for rare diseases at national
level,
- the
standardisation of rare disease nomenclature at international level,
- mapping
the provision of specialised social services and integration of rare
diseases into mainstream social policies and services,
- the
leveraging of the value of EU networking for improving the quality of care
for rare diseases,
- the
integration of RD initiatives across thematic areas and across Member
States.
This
last area of work aimed, with the input of the EUCERD, to propose a model for
sustainable action.
The
expected outcome was integrated strategy for the implementation of rare disease
policies through the exchange of experience between Member State health
authorities already involved in rare disease policy definition and
implementation and via a series of recommendations from the EUCERD and clear
communication of these recommendations to national policy makers, patient
organisations and learned societies.
Specific
expected outcomes were the following:
- Enhanced
visibility of RD and wider dissemination of related activities and
knowledge
- Accelerated
implementation of the inter-sectoral national action plans for rare
diseases
- Adequate
and established definition, classification and codification of rare
diseases
- Wider
recognition of the value and support to the development of specialised
social services
- Identification
of actions allowing to improve the access to higher-quality healthcare,
covering the entire continuum, from diagnosis to care and rehabilitation,
in particular through linking national dedicated structures with all
European Reference Networks;
- A
model for sustainable action in the area of RD, across thematic areas and
geographical barriers, providing a framework for recognition of rare
diseases and sharing of knowledge and expertise.
Outputs & deliverables
The
following outputs and public final deliverables of the EUCERD Joint Action
(N°2011 22 01) are currently available. A meeting presenting the outcomes of
the Joint Action was organised on 15 September 2015 in Luxembourg.
Final deliverables
- Deliverable
3: Communication Strategy & Website; annual State of the Art report; OrphaNews newsletter
- Deliverable
5: Capacity Building Report for Rare Disease National Plans/National
Strategies in EU Member States
- Deliverable
6: Relevant coding and classification of Rare Diseases in International
nomenclatures
- Deliverable
7: Report on Guiding Principles for social care for rare diseases and
EUCERD Recommendations in the Social Field
- Deliverable
8: State of the Art Report in Healthcare Systems and good practices in
Rare Diseases
- Deliverable
10: Proposals for the sustainability of rare disease network tools and
resources
Outcomes
National
plans and strategies
- National
conference reports
- Belgium,
Croatia,
Cyprus,
Denmark,
Finland,
France,
Georgia,
Greece,
Hungary,
Italy,
Lithuania,
Luxembourg,
Netherlands,
Poland,
Romania,
Russia,
Serbia,
Slovak
Republic, Spain,
Sweden,
United
Kingdom, Ukraine
- Workshop
Report: National plans/strategies for rare diseases workshop,
8 May 2014, Berlin – organised through the EUCERD Joint
Action N°2011 22 01
- Workshop
report: Key indicators for national plans/strategies workshop,
25 March 2013, Rome – organised through the EUCERD Joint
Action N°2011 22 01
- Workshop
report: Inception workshop on National Planning for Rare Diseases, 10-11
September 2012, Rome – organised through the EUCERD
Joint Action N°2011 22 01
International
RD nomenclatures
- Rare
diseases in the ICD-11 Beta Draft
- Rare diseases cross-referenced
with other terminologies (via Orphadata)
- List of International Consortium
of Human Phenotype Terminologies ICHPT Codes (via IRDiRC
website)
- Information
leaflet on how to use the OrphaCode: Making
rare diseases visible in your health information system
- Summary report of the workshop
on cross-referencing of terminologies (27-28 September 2012)
– organised
through the EUCERD Joint Action N° 2011 22 01 and Eurogentest
2
- Summary
report of the workshop on Orphacodes in health
information systems (18 March 2014) – organised
through the EUCERD Joint Action N° 2011 22 01
- Summary
report of the workshop on Orphacodes in health
information systems, (1-2 October 2014, Ispra) –
organised
by the EC Joint Research Centre and the EUCERD Joint Action N° 2011 22 01
- Commission
Expert Group on Rare Diseases – Recommendation on Ways to Improve
Codification of Rare Diseases (November 2014)
Specialised
social services
- Map
of Specialised Social Services
- Background
document: EUCERD
Joint Action: Rare Diseases – Addressing the Need for Specialised Social
Services & Integration into Social Policies
(November 2012)
- Workshop
report: Guiding principles for Specialised Social Services
(December 2012) – organised through the EUCERD Joint Action
N° 2011 22 01
- EUCERD
Joint Action: Guiding Principles for Specialised Social Services
(April 2013)
- Workshop
report: Training for social services providers
(October 2013) – organised through the EUCERD Joint
Action N° 2011 22 01
- EUCERD
Joint Action Guiding Principles on Training for Social Services Providers
(April 2014)
- EUCERD
Joint Action: Examples of Training Programmes for Social Service
Providers
- Workshop
Report: Guiding principals for social care (October
2014) – organised
through the EUCERD Joint Action N° 2011 22 01
Quality of
care/centres of expertise
- Workshop
Report: Preliminary outcomes of the WP7 survey on centres of expertise,
(31 March-1 April 2014, Madrid) – organised through the EUCERD Joint
Action N°2011 22 01
- Workshop:
From Centres of Expertise to European Reference Networks
– 11 & 12 May 2015, Madrid – organised through the EUCERD Joint
Action N° 2011 22 01
- Summary
workpackage report: Centres of expertise and
quality of care for rare diseases
(January 2015)
Integration
of RD activities
Registries
- Workshop report: Rare diseases
registration, 13 November 2012, Luxembourg –
organised
through the EUCERD Joint Action N°2011 22 01
- Workshop
report: Registries for rare diseases and the European registry platform,
22-23 April 2013, Paris – organised through the EPIRARE project
& EUCERD Joint Action N°2011 22 01
- Working
document: Minimal Data Set for Rare Diseases Registries
(January 2015)
- Working
document: Thesaurus of Registry Terminology
(January 2015)
European
Reference Networks
- Workshop
report: European Reference Networks (ERNs), 25 & 26 September 2012,
Newcastle – organised through the EUCERD
Joint Action N°2011 22 01
- Workshop
Report: ERNs and structural funds for Rare Diseases,
28-29 October 2014, Rome – organised through the EUCERD Joint
Action N°2011 22 01
Genetic
Testing
- Workshop
Report: Cross-Border Genetic Testing in the European Union,
15-16 December 2014, Newcastle – organised through the EUCERD Joint
Action N°2011 22 01
Reports on
the State of the Art of RD Activities
o
2014 Edition – arising
from the EUCERD Joint Action N°2011 22 01
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe –
Part I: Overview of Rare Disease Activities in Europe
– July 2014
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe
-Part II: Key developments in the field of rare diseases in Europe in
2013 – July 2014
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe
-Part III: European Commission activities in the field of rare diseases
– July 2014
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe
-Part IV: European Medicines Agency activities and other European
activities in the field of rare diseases –
July 2014
- 2014
Report on the State of the Art of Rare Diseases Activities in Europe
-Part V: Activities of European Member States and other European
countries in the field of rare diseases
– July 2014
o
An article based on this work has
been published: Charlotte Rodwell, Ségolène Aymé Rare disease policies to improve
care for patients in Europe, Biochim Biophys Acta. 2015 Feb
25. pii: S0925-4439(15)00059-9. (Open Access)
o
2013 Edition –
arising from the EUCERD Joint Action N°2011 22 01
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe –
Part I: Overview of Rare Disease Activities in Europe
– July 2013
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe
-Part II: Key developments in the field of rare diseases in Europe in
2012 – July 2013
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe
-Part III: European Commission activities in the field of rare diseases
– July 2013
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe
-Part IV: European Medicines Agency activities and other European
activities in the field of rare diseases –
July 2013
- 2013
Report on the State of the Art of Rare Diseases Activities in Europe
-Part V: Activities of European Member States and other European
countries in the field of rare diseases
– July 2013
o
2012 Edition –
arising from the EUCERD Joint Action N°2011 22 01
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part I: Overview of
Rare Disease Activities in Europe –
July 2012
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part II: Key
developments in the field of rare diseases in Europe in 2011
– July 2012
- EUCERD Report: 2012 Report on
the State of the Art of Rare Diseases Activities in Europe – Part III:
European Commission activities in the field of rare diseases –
July 2012
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part IV: European
Medicines Agency activities and other European activities in the field
of rare diseases – July 2012
- EUCERD Report: 2012 Report on the State
of the Art of Rare Diseases Activities in Europe – Part V: Activities of
European Member States and other European countries in the field of rare
diseases – July 2012