# EUR-Lex - 52014DC0548 - EN

*|*

# 52014DC0548

**REPORT FROM THE COMMISSION TO THE EUROPEAN PARLIAMENT, THE COUNCIL, THE EUROPEAN ECONOMIC AND SOCIAL COMMITTEE AND THE COMMITTEE OF THE REGIONS Implementation report on the Commission Communication on Rare Diseases: Europe's challenges [COM(2008) 679 final] and Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02) /* COM/2014/0548 final */**

			*

			*

Contents

1.          Introduction. 2

a.           Policy
framework. 2

b.          Bases
of the report and methodology. 3

2.          Plans
and strategies in the field of rare diseases. 3

a.           European
Commission activities. 3

b.          Situation
in the Member States. 4

3.          Definition,
codification and inventorying of rare diseases. 6

a.           European
Commission activities. 6

b.          Member
States activities. 6

4.          Research
on rare diseases. 7

a.           European
Commission activities. 7

b.          Member
States activities. 9

5.          Centres
of expertise and European reference networks for rare diseases. 9

a.           European
Commission activities. 9

b.          Member
States activities. 10

6.          Gathering
the expertise on rare diseases at European level 11

7.          Empowerment
of patients’ organisations. 11

a.           European
Commission activities. 11

b.          Member
States activities. 11

8.          Governance
and European coordination. 12

9.          Actions
to increase high-quality health care for rare diseases. 12

a.           Regulation
on Orphan medicinal products. 12

b.          Facilitating
access to orphan medicinal products. 13

Working Group "Mechanism of Coordinated Access to
Orphan Medicinal Products" under the Process on Corporate Responsibility
in the Field of Pharmaceuticals. 13

c.           Population
screening for rare diseases. 13

10.               Global
dimension of the rare diseases policy. 14

11.               Conclusions
and proposals for the future. 14

1. Introduction
a. 
Policy
framework

Rare
diseases affect between 27 and 36 million people in the European Union and
are a key health policy priority due to the limited number of patients and
scarcity of relevant knowledge and expertise regarding particular diseases.

Patients
with rare diseases often spend years of uncertainty waiting for their disease
to be diagnosed, and for an appropriate treatment to be found. The medical
expert who can diagnose such a rare disease may practice in another region or indeed
in another Member State. Scientific knowledge on the specific rare disease is
likely to be insufficient and scattered.

This
is why the European Union dimension and the co-operation between Member States
can make a difference, for example in pooling together knowledge and expertise,
in fostering research and co-operation and in granting the authorisation of the
best possible medicines for the whole European Union. EU action on rare
diseases provides high added value.

To
achieve this goal in 2008, the Commission adopted a Communication on Rare
Diseases: Europe’s challenge[1],
setting out an overall strategy to support Member States in diagnosing,
treating and caring for EU citizens with rare diseases. The Communication focuses
on three main areas: i) improving the recognition and visibility of rare
diseases; ii) supporting policies on rare diseases in the Member States for a
coherent overall strategy, and iii) developing cooperation, coordination and
regulation for rare diseases at EU level.

Alongside
the Communication, a Council Recommendation on action in the field of rare
diseases[2]
was adopted a few months later, calling on Member States to put national
strategies in place. The Recommendation focuses on i) definition, codification
and inventory of rare diseases, ii) research, iii) European reference networks,
iv) gathering expertise at EU level, v) empowerment of patient organisations,
and vi) sustainability.

Article
13 of Directive 2011/24/EU[3]
on the application of patients’ rights in cross-border healthcare also addresses
rare diseases. It states that the Commission shall support Member States,
in particular by making health professionals aware of the tools available to
assist the diagnosis of rare diseases, and by making stakeholders aware of the
possibilities offered by Regulation 883/2004[4]
for referral of rare disease patients to other Member States.

Rare Diseases were identified, for the
first time, as a priority field for public health action in the European Union,
in the Commission Communication of 24 November 1993[5]
on the framework for action in the field of public health. This was followed by
providing support for several projects as well as by setting up  the Rare
Diseases Task Force.

The
Orphan Medicinal Products Regulation
(Regulation (EC) No 141/2000 of the European Parliament and of the Council of
16 December 1999 on orphan medicinal products)[6]
established criteria for orphan designation in the EU and delivered a set of incentives
(e.g. 10-year market exclusivity, protocol assistance, access to the
Centralised Procedure for Marketing Authorisation) to encourage research,
development and marketing of medicines to treat, prevent or diagnose rare
diseases.

This
report presents an overview of the implementation of the rare diseases strategy
to date and takes stock of achievements and lessons learnt. It seeks to draw conclusions
on the extent to which the measures foreseen in the Commission Communication
and the Council Recommendation have been put in place and the need for further
action to improve the lives of patients affected by rare diseases and their
families.

b. 
Bases of the report and methodology

In
the Communication and the Council Recommendation, the Commission was called upon
to report on the implementation of the strategy. In order to collect
information about the situation at national level, the Commission sent out an electronic
questionnaire to Member States. Eighteen countries provided the requested
information. Answers from Member States, together with information collected by
the EUCERD Joint Action and published as “Report on the State of the Art of
Rare Diseases Activities in Europe”[7],
served as the main source of information  for this Implementation report.

2. 
Plans and strategies in the field of
rare diseases
a. 
European Commission activities

In
order to support Members States in the process of developing national plans and
strategies, the European Commission co-financed the EUROPLAN project from the
EU Health Programme.

The project, running
from April 2008 to March 2011, involved representatives of national health
authorities of 21 Member States, and  brought together 57 associated and
collaborating partners from 34 countries. One of the deliverables was a “Report
on indicators for monitoring the implementation and evaluating the impact of a
National Plan or Strategy for rare diseases" which served as a basis for
the adoption of the “EUCERD Recommendations on Core Indicators for Rare Disease
National Plans/Strategies”[8].

Some
EUROPLAN activities, especially those related to technical assistance to Member
States with particular difficulties in the preparation of their national plan
or strategy, are covered further by a specific work package of the EUCERD Joint
Action.

Through
this work package, the Commission continues to support the preparation of
national plans in the countries where such plans are not yet in place.

The
EUCERD Joint Action covers a 42-month period (March 2012 – August 2015). It
supports Members States in the development of strategies, mapping the provision
of specialised social services and integration of rare diseases into mainstream
social policies, as well as supporting implementation of a coding and
classification of rare diseases.  The Joint Action also provides support for
the production of OrphaNews Europe[9]
and the annual State of the Art report of Rare Disease Activities in Europe.

b. 
Situation in the Member States

Objectives for action: In the Council
Recommendation Member States committed themselves to adopt a plan or strategy to
address rare diseases as soon as possible and by the end of 2013 at the latest.

In
2009, a focus on rare diseases was relatively new and innovative in most Member
States and only a few had national plans in place. These were Bulgaria, France, Portugal and Spain.

By
the first quarter of 2014, 16
Member States had national plans or strategies in place to address rare
diseases. Seven further countries are
well advanced in the development of their plans/strategies.

Member States with an adopted National plan or strategy for rare diseases: Belgium, Bulgaria, Cyprus, Czech Republic, France, Germany, Greece,  Hungary, Lithuania, Netherlands, Portugal, Romania, Slovakia, Slovenia, Spain, United Kingdom. Member States in advanced stage of preparation of the National plan or strategy for rare diseases: Austria, Croatia, Denmark, Finland, Ireland, Italy, Poland.

Countries
vary considerably in the level of implementation of their plans. This is partially
due to the fact that several countries such as the UK, Germany, the Netherlands and Belgium only recently adopted their plans/strategies. Only one country,
  France, has already finished implementing the first plan and adopted a second
national plan.

Most
Member States have no dedicated budget for the implementation of national
plans. Funding is usually provided as part of overall health spending. Countries
do provide occasional budgets for the implementation of specific projects. Some
countries reported that budgets are under additional strain as a result of the
economic crisis.

Despite
their comprehensiveness and inter-sectorial approach, all plans were adopted at
the level of the Ministry of Health. In the Czech Republic, in addition, the
plan was also endorsed by the Prime Minister.

The
scope of the rare diseases plans differs between countries. For example, while
rare cancers are an important part of the rare diseases spectrum, several plans/strategies
do not cover this group of diseases. This is true for Germany, France, Belgium, Denmark and Portugal. Denmark does not consider infectious diseases as
rare diseases.

Fourteen
countries have run information campaigns to raise awareness on rare diseases. Germany, Croatia, Cyprus and Latvia are currently preparing their campaigns.

Monitoring
and evaluating national plans are important aspects of this initiative and the
EU co-funded the EUROPLAN project[10]
- and subsequently the EUCERD Joint Action[11]
– to provide a framework to support Member States in their efforts to develop
and implement their national plans.

Other
countries with plans in place (Croatia, France, Lithuania, Portugal and Spain) base their monitoring strategy on EUROPLAN indicators. Bulgaria and Slovakia have no monitoring strategy. In the remaining countries monitoring strategies
are under development.

3. 
Definition, codification and
inventorying of rare diseases
a. 
European Commission activities

Objectives
for action:
Establishing a clear definition of rare diseases is
a prerequisite for effective actions in this field. In
Article 3 of the Council Recommendation, Member
States committed to use for the purposes of Community-level policy work a
common definition of a rare disease as a disease affecting no more than 5
per 10,000 persons. It is also important to rapidly improve the codification
of rare diseases in the healthcare systems.  Member States have agreed to aim at
ensuring that rare diseases are adequately coded and traceable in health
information systems as well as to contribute actively to the development of the
EU easily accessible and dynamic inventory of rare diseases based on the
Orphanet network[12].

Examples of the situation in various Member States as regards the rare diseases definition: · Sweden: diseases or disorders which affect fewer than 100 people per million, and which lead to a marked degree of disability; · Finland: uses the definition of no more than 1 in 2000 affected persons and of severe/debilitating disease; · Denmark: has not established an official definition of rare disease. Danish health authorities tend to define rare disease as those affecting no more than 500-1,000 patients in the Danish population; · Estonia: has no approved official definition of rare diseases. Stakeholders, however, accept the EU definition from the Regulation on Orphan medicinal products; · Belgium: defines rare diseases as life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. As a guide, low prevalence means affecting less than 5 per 10,000 individuals in the European Union Community.

b. Member
States activities

Member
States with adopted plans or strategies comply with the EU definition for the
Community level policy. Those without plans in place usually do not have any
official definition of rare disease.

Currently
all Member States are using the International Classification of Diseases ICD-9
or ICD-10 systems in which most rare diseases are absent. Recently some of
the Member States decided to introduce ORPHA codes (rare diseases codification
system developed by the Orphanet database) in their health statistics systems
in parallel to the ICD nomenclature or as a pilot project. The EUCERD joint
action is providing input into the WHO ICD-11 draft in order to ensure the presence
of rare diseases in international nomenclatures.

In
order to collect and make available information on rare diseases, the
Commission is supporting the Orphanet Joint Action[13]
through the EU Health Programme, involving all Member States, either as
associated or collaborating partners.  Orphanet is a relational database
available in seven languages which aims to link together information on over 6,000
diseases and allows for multiple queries. Each country also has its own entry
page in their national language.

4. 
Research on rare diseases
a. 
European Commission activities

Objectives
for action: under
point 5.12 of the Communication and under article 3 of the Council
Recommendation, Member States and the Commission are called upon to seek to improve
the coordination of Community, national and regional programmes for rare
diseases research.  The EU has funded close to 120 collaborative research
projects relevant to rare diseases through its Seventh Framework
Programme for Innovation and Technological Development (FP7)[14].
With a total budget of over €620 million, these projects span across
several disease areas such as neurology, immunology, cancer, pneumology, and
dermatology[15].
Through its research policy activities, the European Commission has also been a
driving force in the launch of initiatives aiming to better coordinate research
at European and international levels.

Examples of national programmes for research in rare diseases In Germany in September 2010, a new call for proposals for the possible extension of the 10 networks which started in 2008 and the creation of new networks was published. After the evaluation of 39 proposals by a review board of international rare disease experts, the Federal Ministry of Education and Research has selected 12 networks for funding starting in 2012 with more than €21million for three years. Additional funding of rare disease research is ongoing in other funding initiatives such as the National Genome Research Network (NGFN), Innovative Therapies, Regenerative Medicine, Molecular Diagnostics, Clinical Trials and others, representing about €20 million per year. In France calls for research projects are steered by the French National Agency for Research (basic research) or by the Ministry of Health (clinical research) or by both (translational research). Calls for projects in Social Sciences are also available. Patients’ associations also provide research funds. Basic, clinical and translational research is constantly supported across the board with no national priority on a specific rare disease. An amount of €51 million was allotted for research during the second national plan 2011-2014. In Croatia there is a lack of detailed data on funds devoted for research on rare diseases. It is estimated that around 4% of current research projects in Croatia can be related to rare diseases.

The
EU-funding strategy for rare diseases research has focused on the understanding
of the underlying causes for these diseases and on diagnosis, prevention and
treatment. The strategy is illustrated by the FP7 health calls in 2012 and
2013, which featured several topics on rare diseases[16].
EU-funded collaborative research brings together multidisciplinary teams
representing universities, research organisations, SMEs, industry and patient
organisations from across Europe and beyond. Collaborative research on European
and international level is especially important in an area such as rare
diseases, characterised by small patient populations and scarce resources. The
EU has also funded over 100 individual fellowships, grants and training
networks in this field[17].

The
EU-funded ERA-NET project E-RARE-2[18] aims
to develop and strengthen the coordination of national and regional research
programmes. One of its main activities is the launch of Joint Transnational
Calls. These calls have involved funding agencies from 13 EU Member States[19]
as well as Turkey, Israel, Switzerland, and Canada. Together with its
predecessor, E-RARE-2 has funded over 60 research projects.

In
collaboration with its national and international partners, the European
Commission spearheaded the launch of the International Rare Diseases
Research Consortium (IRDiRC)[20]
in early 2011. Its key objective is to deliver, by 2020, 200 new
therapies for rare diseases and the means to diagnose most of them by
stimulating, better coordinating, and maximising output of rare disease
research on a global level. At the end of 2013, IRDiRC had over 35 member
organisations from four continents committed to work together towards the
initiative's goals.

The
EU's strong commitment to rare disease research and to IRDiRC is set to
continue through Horizon 2020, the EU Framework Programme for Research and
Innovation funding for the period 2014-2020. Over the next seven-year period,
the EU will continue to fund research in rare diseases for the benefit of
patients in Europe and across the world.

Patient
registries and databases constitute important
instruments to serve research in the field of rare diseases and to improve
patient care and healthcare planning. They help to pool data in order to achieve
a sufficient sample size for epidemiological and/or clinical research. They are
also vital to assessing the feasibility of clinical trials, to facilitating the
planning of appropriate trials and to supporting the enrolment of patients.
They can also be used for the measurement of quality, safety, efficacy and
efficiency of a treatment. An overview of issues
surrounding the establishment, governance and financing of academic registries was
published by Orphanet[21].

As
of January 2014 there were 588 rare diseases registries distributed as
follows: 62 European, 35 global, 423 national, 65 regional and 3 undefined.
Most of the registries are established in public and academic institutions. A
minority of them are managed by pharmaceutical or biotech companies, while
others are being run by patient organisations. The lack of interoperability
between rare diseases registries is severely jeopardising the registries'
potential.

This
is why the European Commission's Joint Research Centre is currently developing a
European Platform on Rare Diseases Registration. The main objectives for
this platform are to provide a central access point for information on rare
diseases patients’ registries for all stakeholders, to support new and existing
registries in view of their interoperability, to provide IT tools to maintain
data collection and to host activities of the surveillance networks.

b. 
Member States activities

Some
countries have specific funding programmes for research in the field of rare
diseases. Amongst the countries which have established both on-going or finalised
specific rare disease research funding programmes/calls are: Austria, France, Germany, Hungary, Italy, the Netherlands, Portugal, Spain and the United Kingdom.

Many
other countries support rare disease projects through generalised research
funding programmes. A few countries (such as France, Germany, Italy, the Netherlands and Spain) also have, or have had, specific initiatives and incentives in
place to boost R&D in the field of orphan medicinal products and other
innovative therapies at national level.

5. 
Centres of expertise and European
reference networks for rare diseases
a. 
European Commission activities

Directive
2011/24/EU on the application of patients’ rights in cross-border healthcare
(2011)[22]
sets the rules for patients’ rights to access to safe and good quality
treatment across EU borders and reimbursement rules. The Directive provides a
firm basis for increased cooperation between national health authorities. Some
provisions address rare diseases. Article 12 foresees enhanced cooperation of
Member States including the criteria and conditions for European Reference
Networks and for healthcare providers.

The
Directive aims to identify already established centres of expertise and to
encourage voluntary participation of healthcare providers in the future European
Reference Networks.  On 10th
March 2014 the Commission adopted a list of criteria and conditions that the
European Reference Networks must fulfil and the conditions and criteria
required from healthcare providers wishing to become a Member of a European
Reference Network[23],[24].

Before
the adoption of Directive 2011/24/EU, the Commission supported 10 specific pilot
European Reference Networks for Rare Diseases through the EU Health
Programme. Experience gained by these projects helped to design a legal
framework and will serve future European Reference Networks.

List of pilot European Reference Networks for Rare Diseases · Dyscerne: European Network of Centres of Reference for Dysmorphology · ECORN CF: European Centres of Reference Network for Cystic Fibrosis · PAAIR: Patient Associations and Alpha1 International Registry, · EPNET European Porphyria Network, · EN-RBD European Network of Rare Bleeding Disorders, Paediatric Hodgkins Lymphoma Network · NEUROPED: European Network of Reference for Rare Paediatric Neurological Diseases · EURO HISTIO NET: A reference network for Langerhans cell histiocytosis and associated syndrome in EU · TAG: Together Against Genodermatoses · CARE NMD: Dissemination and Implementation of the Standards of Care for Duchene muscular Dystrophy in Europe

b.  Member States activities

Member
States have taken very different approaches in the organisation of the centres
of expertise within their healthcare systems. Some countries have formally designated
centres of expertise for rare diseases: France, Denmark, Spain and the United Kingdom. Italy has regionally designated centres of expertise for rare
diseases.

Designation
criteria vary from country to country, sometimes even from region to region
within a country, even if these criteria are often in line with EUCERD recommendations
on quality criteria for centres of expertise for rare diseases in Member States[25].

A
number of countries have centres of expertise for rare diseases which, while
not officially designated, are acknowledged by authorities to varying degrees: Austria, Belgium, Croatia, Czech Republic, Cyprus, Germany, Greece, Hungary, Ireland, the Netherlands, Sweden, and Slovenia.

A
number of countries have centres of expertise for rare diseases which are
recognised by reputation only, sometimes self-declared as centres of expertise:
 Bulgaria, Estonia, Finland, Latvia, Lithuania, Portugal, Poland, Romania, and the Slovak Republic.

6. 
Gathering the expertise on rare diseases
at European level

Objectives for
action: under Section V of the Council Recommendation,
Member States are called upon to gather national expertise on rare diseases
and support its pooling.

The majority of
Member States support the pooling of expertise with European counterparts in
order to foster the sharing of best practices on diagnostic tools and medical
care as well as education and social care in the field of rare diseases.
Several of them have organised education and training for health professionals
to make them aware about existing resources available.

In order to
support this process, the Commission recently co-funded the Rare Best
Practices project[26].
This is a four-year project (January 2013-December 2016) co-funded by the Seventh
Framework Programme for Innovation and Technological Development (FP7).The main
aims of the project include: elaborating standards and transparent reliable
procedures for the development and evaluation of clinical practice guidelines
for rare diseases and establishing consensus on an innovative methodology.

7. 
Empowerment of patients’
organisations
a. 
European Commission activities

Objectives
for action: under
Article 6 of the Council Recommendation, Member States are called on to consult
patients′ organisations on the policies in the field of rare diseases and
to promote the activities of these organisations.

The
participation of patients’ organisations in all aspects of the development of
rare diseases policy is very important for identifying patients’ needs. The
Commission is supporting this approach at EU level by involving European
umbrella patients’ organisations in various actions such as expert groups and
committees.

The
Commission has also provided operating grants to patients’ organisations via
the EU Health Programme.

b. 
Member States activities

An
increasing number of national alliances of rare disease patient organisations
have been created in Europe. According to Orphanet, by the end of 2013 there
were 2512 rare diseases specific patients’ organisations including 2161
national, 213 regional, 72 European and 61 international organisations.

All
Member States which replied to the questionnaire engage in active dialogue with
rare diseases patients’ organisations, mainly by consulting patients and
patients' representatives on the policies in the field of rare diseases.

8. 
Governance and European coordination

Objectives for
action: the Communication under point 7 states
that the Commission should be assisted by an advisory committee on rare
diseases.

Such a Committee
was set up by Commission Decision of 30 November 2009 establishing a European
Union Committee of Experts on Rare Diseases (2009/872/EC)[27]. The
Committee's work resulted in the adoption of five sets of recommendations and
an opinion, along with the publication of a bi-monthly newsletter and an annual
report on the State of the Art of Rare Diseases Activities in Europe which
describes activities at Member State, EU and global levels.

The Committee
was recently replaced by the Commission expert group on rare diseases[28] in
line with provisions of the Framework for Commission expert groups:  horizontal
rules and public register[29].

The expert group
is composed of Member States' representatives, as well as representatives of patients’
organisations, European associations of producers of products or service
providers, European professional associations or scientific societies and
individual experts.  The main task of the expert group is to advise the
Commission in the implementation of Union actions on rare diseases including drawing
up of legal instruments, policy documents, guidelines and recommendations.

9. 
Actions to increase high-quality health
care for rare diseases
a. 
Regulation on Orphan
medicinal products

In
response to a public health concern and in order to stimulate the research and
development of orphan medicines, the EU adopted the Orphan Regulation which
aims to provide incentives for the development of orphan medicinal products.
Regulation (EC) No 141/2000[30]
of the European Parliament and of the Council establishes a centralised procedure
for the designation of orphan medicinal products and puts in place incentives
for the research, marketing and development of medicines for rare diseases.

As
of January 2014, more than 90 orphan medicines have been authorised by
the European Commission. Equally important, the European Commission has
designated more
than 1000 products as orphan medicinal products[31]. The
sponsors developing these products benefit from incentives such as protocol
assistance. This assistance should facilitate the development and authorisation
of innovative medicines for the benefit of the patients.

In
recent years, the number of designations has increased while the number of
authorisations has remained stable (7 authorisations in 2013 versus 10
authorisations in 2012).

b. 
Facilitating access to orphan medicinal
products

Despite
these incentives, authorised orphan medicinal products are not available in all
EU Members and access for patients is not equal in all EU Member States.
Moreover, important delays in availability have been observed. A project has
therefore been initiated by Member States and the Commission to coordinate
investments in the evaluation of new medicines and in the exchange of
information and knowledge[32].

Although
decisions on pricing and reimbursement are an exclusive national competence,
the Member States are faced with important and common challenges to provide
affordable and sustainable access to valuable medicines for patients with
obvious unmet medical needs. Meeting these challenges can pose even more of a problem
when limited numbers of patients are concerned and possible treatments to meet
the unmet medical needs are scarce and expensive, as is often the case with
rare diseases and orphan medicinal products.

Working
Group "Mechanism of Coordinated Access to Orphan Medicinal Products"
under the Process on Corporate Responsibility in the Field of Pharmaceuticals

The
main objective of the working group [33]
was to examine how to provide "real life access" to orphan medicinal
products for patients suffering from rare diseases. The main recommendation of
the group was to develop a coordinated mechanism between volunteering Member
States and sponsors to evaluate the value of an orphan medicinal product, which
could be based on a transparent value framework, in order to support the
exchange of information aimed at enabling informed decisions at Member State level on pricing and reimbursement. This should lead to more rational prices
for payers, more predictable market conditions for industry and more equitable
access for patients.[34]

c. 
Population screening for rare diseases

Objectives for
action: In the
Communication under point 5, the Commission committed to evaluating current
population screening (including neonatal screening) strategies for rare
diseases.

The Commission commissioned
a report on the practices of newborn screening for rare disorders implemented
in all the EU Member States including the number of centres, an estimation
of the number of infants screened and the number of disorders included in the newborn
screening
as well as reasons for the selection of these disorders[35]. The
majority of Member States covered by this report has a body which oversees
newborn screening. The numbers of diseases screened vary substantially
between Member States, from one in Finland to 29 in Austria.

On
the basis of this report, the EU Committee of experts on rare diseases adopted
an opinion on potential areas of European collaboration
in the field of newborn screening[36].

10. 
Global dimension of the rare diseases
policy

Objectives for
action: The
Communication aims at fostering cooperation on rare diseases at an
international level with all interested countries and in close
collaboration with the World Health Organisation.

The European Union and its Member States are regarded as leaders in the development of actions for rare diseases. Actions
undertaken by the EU and in Member States have influenced developments in this
field in non-European countries, and political and technical developments in
European Union also had a significant impact on other countries’ rare diseases
policy.

Several specific actions have been taken up by
non-European countries, sometimes as a result of being visible on the Internet,
as in the case of Orphanet which publishes on-line information in seven
languages and has gained importance as a truly global source of information.
Other initiatives are supporting global international organisations in their
work related to rare diseases, such as for example the EUCERD Joint Action involvement
in the ICD-10 update. The
International Rare Disease Research Consortium[37]
is an excellent example of international cooperation initiated by the European
Commission.

The European Commission policy on rare diseases has
as well benefited from policy achievements in other countries.

11. 
Conclusions and proposals for the future

According to the Council recommendation, the implementation
report should consider the extent to which the proposed measures are working
effectively and the need for further action to improve the lives of patients
affected by rare diseases and those of their families.

The
European Union has come a long way in fostering
co-operation to improve the lives of people suffering from a rare disease since
the adoption of the Commission Communication
in 2008 and the Council Recommendation in 2009.

By and large the objectives of the Communication and
the Council Recommendation have been reached.  Both have served to
strengthen the cooperation between the European Union, the Member States and all the relevant stakeholders.

The Commission has fostered the exchange of
experiences to help Member States develop their national plans or strategies for
rare diseases.

This has supported a significant number of Member
States to put in place dedicated plans  to address rare diseases: 16 Member
States now have rare diseases plans (as compared to only 4 in 2008) and a
significant  number are close to adopting a plan. Supporting Member States in this
endeavour remains the key priority for the Commission's work in this area.

Despite such encouraging progress, there is still a
long way to go to ensure that people suffering from a rare disease can obtain
the right diagnosis and best possible treatment throughout the EU. There are still
Member States who do not yet have a national plan or strategy.  In those Member
States that do have a national plan or strategy in place, implementation has
mostly started only recently and needs to be monitored.

This
is why action on rare diseases features prominently in the new Health Programme
and the new EU Research and Innovation Programme Horizon 2020. The following
actions are envisaged to
continue supporting Member States:

Maintain
  the EU’s coordinative role in the development of the EU policy on
  rare diseases and to support Member States in their activities on the
  national level.  
 Continue
  to support the development of high quality National Rare Diseases
  Plans/Strategies in the European Union.
 Provide
  continued support for the International Rare Disease Research
  Consortium and initiatives developed under its umbrella. 
 Continue
  to ensure proper codification of rare diseases.
 Work
  further to decrease inequalities between patients with rare
  diseases and patients suffering from more common disorders and to support
  initiatives promoting equal access to diagnosis and treatment.
 Continue
  to promote patients empowerment in all aspects of rare diseases policy
  development
 Continue
  activities increasing public awareness about rare diseases and EU activity
  in this field 
 Make
  use of the Directive 2011/24/EU on the application of patients’ rights in
  cross-border healthcare to bring together European Reference Networks
  on rare diseases. Support the development of the tools facilitating cooperation
  and interoperability of the European Reference Networks for rare
  diseases.
 Stimulate
  development and use of eHealth solutions in the area of rare diseases.
 Implement
  and continue support for the European Platform on rare diseases registration.
 Continue playing a global
  role in the rare diseases initiative and collaborating with important international
  stakeholders.

The
views expressed by Members States and stakeholders, in the framework of the
Commission expert group on rare diseases, will also be taken into account.

[1] COM(2008) 679 final of 11 November 2008

[2] OJ C 151, 03/07/2009, p. 7–10

[3] OJ L 88, 04/04/2011, p. 45–65

[4] http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2004:166:0001:0123:en:PDF

[5] http://aei.pitt.edu/5792/

[6]
http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2000:018:0001:0005:en:PDF

[7] http://www.eucerd.eu/?page_id=15

[8]
http://www.eucerd.eu/wp-content/uploads/2013/06/EUCERD_Recommendations_Indicators_adopted.pdf

[9] http://www.orpha.net/actor/cgi-bin/OAhome.php?Ltr=EuropaNews

[10] http://www.europlanproject.eu/_newsite_986989/index.html

[11] http://ec.europa.eu/eahc/projects/database.html?prjno=20112201

[12] http://www.orpha.net/consor/cgi-bin/index.php

[13] http://ec.europa.eu/eahc/projects/database.html?prjno=20102206

[14] This figure refers to research funded in the Health Theme of the
FP7 Cooperation Programme (2007-2013).

[15] A recent publication including EU funding for rare disease research
can be found on: http://ec.europa.eu/research/health/pdf/rare-diseases-how-europe-meeting-challenges_en.pdf

[16] The rare disease topics in the 2012 and 2013 FP7 Health Calls were:
'Support for
international rare disease research; Clinical
utility of –omics for better diagnosis of rare diseases; Databases, biobanks and clinical
‘bio-informatics’ hub for rare diseases; Preclinical
and clinical development of orphan drugs; Observational trials in rare diseases;
Best practice and knowledge sharing in clinical management of rare diseases
(2012) and Development of imaging technologies for therapeutic interventions
in rare diseases; New methodologies for clinical trials for small population
groups (2013).

[17] These activities have been funded through the FP7 People (Marie
Curie Actions) and Ideas (European Research Council) programmes. Read more on: http://ec.europa.eu/research/mariecurieactions
and on: http://erc.europa.eu

[18] Read more on the E-RARE-2 website: http://www.e-rare.eu

[19] Austria, Belgium, France, Germany, Greece, Hungary, Italy, Latvia, the Netherlands, Poland, Portugal, Romania and Spain.

[20] Read more on the IRDiRC website: http://www.irdirc.org

[21] http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

[22] http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2011:088:0045:0065:en:PDF

[23]OJ L 147, 17/05/2014, p. 71–78

[24]OJ L 147, 17/05/2014, p. 79–87

[25] http://www.eucerd.eu/?post_type=document&p=1224

[26] http://www.rarebestpractices.eu/

[27]
http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2009:315:0018:0021:EN:PDF

[28]
http://ec.europa.eu/health/rare_diseases/docs/dec_expert_group_2013_en.pdf

[29] http://ec.europa.eu/transparency/regexpert/PDF/C_2010_EN.pdf

[30]
http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2000:018:0001:0005:en:PDF

[31] http://ec.europa.eu/health/human-use/orphan-medicines/index_en.htm

[32]http://ec.europa.eu/enterprise/sectors/healthcare/competitiveness/process_on_corporate_responsibility/platform_access/index_en.htm#h2-2

[33]http://ec.europa.eu/enterprise/sectors/healthcare/competitiveness/process_on_corporate_responsibility/platform_access/index_en.htm#h2-2

[34] After the group concluded their work in 2013, a few working group
members pursued the discussions on the initiative of the Medicines Evaluation
Committee (MEDEV, an informal group of experts from statutory health insurance
institutions in Europe) with a view to put the group's conclusions into
practice and set up pilot projects.

[35] http://ec.europa.eu/eahc/news/news104.html

[36]
http://www.eucerd.eu/wp-content/uploads/2013/07/EUCERD_NBS_Opinion_Adopted.pdf

[37] Read more on the IRDiRC website: http://www.irdirc.org