Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases - Europe's challenges {SEC(2008)2713} {SEC(2008)2712}
Date: 2008-11-11
Institutions: European Commission
Subjects: European cooperation, action programme, illness, medical research, public health, research policy

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COMMISSION OF THE EUROPEAN COMMUNITIES 

Brussels, 11.11.2008 
COM(2008) 679 final 

COMMUNICATION FROM THE COMMISSION TO THE EUROPEAN 
PARLIAMENT, THE COUNCIL, THE EUROPEAN ECONOMIC AND SOCIAL 
COMMITTEE AND THE COMMITTEE OF THE REGIONS 

on Rare Diseases: Europe's challenges 

{SEC(2008)2713} 
{SEC(2008)2712} 

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COMMUNICATION FROM THE COMMISSION TO THE EUROPEAN 
PARLIAMENT, THE COUNCIL, THE EUROPEAN ECONOMIC AND SOCIAL 
COMMITTEE AND THE COMMITTEE OF THE REGIONS 

on Rare Diseases: Europe's challenges 

1. 

INTRODUCTION 

Rare  diseases  are  diseases  with  a  particularly  low  prevalence;  the  European  Union 
considers diseases to be rare when they affect not more than 5 per 10 000 persons in 
the  European  Union.  This  still  nevertheless  means  than  between  5  000  and  8  000 
different  rare  diseases  affect  or  will  affect  an  estimated  29  million  people  in  the 
European Union.  

The specificities of rare diseases - limited number of patients and scarcity of relevant 
knowledge  and  expertise  -  single  them  out  as  a  distinctive  domain  of  very  high 
European  added-value.  European  cooperation  can  help  to  ensure  that  scarce 
knowledge can be shared and resources combined as efficiently as possible, in order 
to tackle rare diseases effectively across the EU as a whole.  

The Commission has already taken specific steps in many areas to address the issues 
of  rare  diseases.  Building  on  those  achievements,  this  Communication  on  Europe's 
Challenges in the field of Rare Diseases aims to be an integrated approach document, 
giving clear direction to present and future Community activities in the field of rare 
diseases  in  order  to  further  improve  the  access  and  equity  to  prevention,  diagnosis 
and  treatment  for  patients  suffering  from  a  rare  disease  throughout  the  European 
Union.  

2. 

THE ISSUE 

Most rare diseases are genetic diseases, the others being rare cancers, auto-immune 
diseases,  congenital  malformations,  toxic  and  infectious  diseases  among  other 
categories.  Research  on  rare  diseases  has  proved  to  be  very  useful  to  better 
understand  the  mechanism  of  common  conditions  such  as  obesity  and  diabetes,  as 
they often represent a model of dysfunction of a single biological pathway. However, 
research  on  rare  diseases  is  not  only  scarce,  but  also  scattered  in  different 
laboratories throughout the EU.  

The lack of specific health policies for rare diseases and the scarcity of the expertise, 
translate into delayed diagnosis and difficult access to care. This results in additional 
physical,  psychological  and  intellectual  impairments,  inadequate  or  even  harmful 
treatments and loss of confidence in the health care system, despite the fact that some 
rare  diseases  are  compatible  with  a  normal  life  if  diagnosed  on  time  and  properly 
managed.  Misdiagnosis  and  non-diagnosis  are  the  main  hurdles  to  improving  life-
quality for thousands of rare disease patients. 

The national healthcare services for diagnosis, treatment and rehabilitation of people 
with  rare  diseases  differ  significantly  depending  on  their  availability  and  quality. 
Depending  on  the  Member  State  and/or  region  where  they  live,  EU  citizens  have 
unequal access to expert services and available care options. A few Member States 
have  successfully  addressed  some  of  the  issues  raised  by  the  rarity  of  the  diseases, 
while others have not yet considered possible solutions. 

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Under the responsibility of the Commission and the EMEA (the European Medicines 
Agency) a policy is already implemented in the field of Orphan Drugs. These drugs 
are  called  "orphans"  because  the  pharmaceutical  industry  has  little  interest,  under 
normal market conditions, in developing and marketing products intended for only a 
small number of patients suffering from very rare conditions. The Orphan Medicinal 
Product Regulation (Regulation (EC) No 141/2000 of the European Parliament and 
of the Council of 16 December 1999 on orphan medicinal products1) was proposed to 
set up the criteria for orphan designation in the EU and describes the incentives (e.g. 
10-year market exclusivity, protocol assistance, access to the Centralised Procedure 
for Marketing Authorisation) to encourage the research, development and marketing 
of  medicines  to  treat,  prevent  or  diagnose  rare  diseases.  The  EU  policy  for  orphan 
drugs  is  a  success.  However,  Member  States  do  not  yet  ensure  full  access  to  each 
authorised orphan drug approved. 

3. 

OBJECTIVES  

The  Community's  role  in  the  area  of  health  under  Article  152  of  the  Treaty  is  to 
encourage cooperation between the Member States and if necessary to lend support 
to  their  action.  The  specificities  of  rare  diseases  -  limited  number  of  patients  and 
scarcity of relevant knowledge and expertise - single them out as a unique domain of 
very high European added-value. The objective of this Communication is to set out 
an  overall  Community  strategy  for  support  to  Member  States  in  ensuring  effective 
and efficient recognition, prevention, diagnosis, treatment, care, and research for rare 
diseases in Europe.  

This  will  in  turn  contribute  to  the  overarching  goal  -  an  improvement  in  health 
outcomes,  and  therefore  a  growth  in  Healthy  Life  Years,  a  key  Lisbon  Strategy 
indicator2. For this purpose this Communication will orient the operational actions in 
three main fields of work. 

3.1. 

Improving Recognition and Visibility on Rare Diseases 

The  key  to  improving  overall  strategies  for  rare  diseases  is  to  ensure  that  they  are 
recognised, so that all the other linked actions can follow appropriately. To improve 
diagnosis and care in the field of rare diseases, appropriate identification needs to be 
accompanied  by  accurate  information,  provided  and  disseminated  in  inventory  and 
repertory formats adapted to the needs of professionals and of affected persons. This 
will  contribute  to  tackling  some  of  the  main  causes  of  neglecting  the  issue  of  rare 
diseases.  The  Commission  therefore  aims  to  put  in  place  a  thorough  coding  and 
classification system at European level, which will provide the framework for better 
sharing knowledge and understanding rare diseases as a scientific and public health 
issue across the EU.  

3.2. 

Supporting Policies on Rare Diseases in the Member States 

Efficient and effective action for rare diseases depends on a coherent overall strategy 
for rare diseases mobilising scarce and scattered resources in an integrated and well-
recognised  way,  and  integrated  into  a  common  European  effort.  That  common 
European effort itself also depends on a common approach to work on rare diseases 

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Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on 
orphan medicinal products. 
See http://ec.europa.eu/health/ph_information/indicators/lifeyears_en.htm. 

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across  the  EU,  in  order  to  establish  a  shared  basis  for  collaboration  and  to  help 
improve patients' access to care and information.  

The  Commission  therefore  proposes  that  Member  States  base  themselves  on 
common  approach  for  addressing  rare  diseases,  based  on  existing  best  practice, 
through the adoption of a Council Recommendation. The Commission's proposal for 
a  Council  Recommendation  accompanying  this  Communication  recommends  that 
Member States put in place strategies organised around: 

–  putting in place inter-sectoral action national plans for rare diseases; 

–  adequate  mechanisms  for  definition,  codification  and  inventory  of  rare  diseases 
and production of good  practice  guidelines, in order to provide  a framework  for 
recognition of rare diseases and sharing of knowledge and expertise; 

–  fostering  research  on  rare  diseases,  including  cross-border  cooperation  and 

collaboration to maximise the potential of scientific resources across the EU; 

–  ensuring  access  to  high-quality  healthcare,  in  particular  through  identifying 
national  and  regional  centres  of  expertise  and  foster  their  participation  in 
European Reference Networks; 

–  ensuring  mechanisms  to  gather  national  expertise  on  rare  diseases  and  pool  it 

together with European counterparts; 

–  taking  action  to  ensure  empowerment  and  involvement  of  patients  and  patients' 

organisations; 

–  and  ensuring  that  these  actions  include  appropriate  provisions  to  ensure  their 

sustainability over time. 

3.3. 

Developing  European  cooperation,  coordination,  and  regulation  for  rare 
diseases 

Community  action  will  help  Member  States  to  achieve  efficiency  in  bringing 
together and organise the scarce resources in the area of rare diseases, and can help 
patients and professionals to collaborate across Member States in order to share and 
coordinate  expertise  and  information.  The  Community  should  aim  at  coordinating 
better  the  policies  and  initiatives  at  EU-level,  and  to  strengthen  the  cooperation 
between  EU  programmes,  in  order  to  maximise  further  the  resources  available  for 
rare diseases at Community level. 

4. 

OPERATIONAL  ACTIONS  TO  IMPROVE  RECOGNITION  AND  VISIBILITY  OF  RARE 
DISEASES 

4.1. 

Definition of rare diseases 

The  existing  definition  of  rare  diseases  in  the  EU  was  adopted  by  the  Community 
action  programme  on  rare  diseases  1999-2003  as  those  diseases  presenting  a 
prevalence  not  more  than  5  per  10  000  persons  in  the  European  Union.  The  same 
definition  is  set  out  in  Regulation  (EC)  141/2000  and,  accordingly  used  by  the 
European Commission for the designation of orphan drugs. The EU will maintain the 
current definition. A more refined definition taking into account both prevalence and 
incidence will  be developed using the Health  Programme  resources and taking  into 
account the international dimension of the problem.  

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4.2. 

Classification and codification of rare diseases 

The  international  reference  for  classification  of  diseases  and  conditions  is  the 
International  Classification  of  Diseases  (ICD),  coordinated  by  the  World  Health 
Organisation (WHO3). The Commission will lead work with regard to rare diseases 
within  the  process  of  revising  the  existing  ICD  (International  Classification  of 
Diseases) in order to ensure a better codification and classification of rare diseases. 
For this purpose a working group on Classification and Codification of rare diseases4 
will  be  created  by  the  Commission.  This  working  group  could  be  appointed  as 
Advisory Working Group by the WHO in the current ICD revision process. 

4.3. 

Dissemination of knowledge and information on rare diseases 

One key element for improving diagnosis and care in the field of rare diseases is to 
provide  and  disseminate  accurate  information  in  a  format  adapted  to  the  needs  of 
professionals  and  of  affected  persons.  The  establishment  of  an  EU  dynamic 
inventory  of  rare  diseases  will  contribute  to  tackle  some  of  the  main  causes  of 
neglecting  the  issue  of  rare  diseases  including  the  ignorance  of  which  diseases  are 
rare. The Commission will ensure that this information continues to be available at 
European level, building in particular on the Orphanet5 database, supported through 
Community programmes. 

4.4. 

Disease information networks 

Priorities  for  action  regarding  the  existing  (or  future)  specific  disease  information 
networks are: 

–  to  guarantee  the  exchange  of  information  via  existing  European  information 

networks; 

–  to promote better classification of particular diseases; 

–  to  develop  strategies  and  mechanisms  for  exchanging  information  between 

stakeholders; 

–  to develop comparable epidemiological data at EU level; 

–  and  to  support  an  exchange  of  best  practices  and  develop  measures  for  patient 

groups.  

5. 

5.1. 

OPERATIONAL  ACTIONS  TO  DEVELOP  EUROPEAN  COOPERATION  AND  IMPROVE 
ACCESS TO HIGH-QUALITY HEALTHCARE FOR RARE DISEASES 

Improving  universal  access  to  high-quality  healthcare  for  rare  diseases,  in 
particular  through  development  of  national/regional  centres  of  expertise  and 
establishing EU reference networks 

Member  States  share  a  common  commitment  to  ensuring  universal  access  to  high-
quality healthcare on the basis of equity and solidarity6. But when diseases are rare, 
expertise is scarce as well. Some centres of expertise (also called centres of reference 
or excellence in a few Member States) have developed an expertise which is widely 

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See http://www.who.int/classifications/icd/en/.  
See http://www.who.int/classifications/icd/en/index.html. 
See http://www.orpha.net/. 
Council Conclusions on Common values and principles in European Union Health Systems, OJ 2006/C 
146/01. 

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used  by  other  professionals  from7  their  country  or  even  internationally,  and  which 
can  help  to  ensure  access  to  appropriate  healthcare  for  patients  with  rare  diseases. 
The EU rare diseases Task Force 2006 Report to the High Level Group ‘Contribution 
to  policy  shaping:  For  a  European  collaboration  on  health  services  and  medical 
care  in  the  field  of  RD’8  recommends  that  Member  States  contribute  to  the 
identification of their expert centres and support them financially.  

The High Level Group on health services and medical care has been working on the 
concept of European reference networks since 20049. On the basis of the work of the 
High  Level  Group,  Article  15  of  the  proposal  of  Directive  of  the  European 
Parliament  and  of  the  Council  on  the  application  of  patients'  rights  in  cross-border 
healthcare  (COM(2008)414)  provides  for  the  development  of  European  reference 
networks (ERNs) to be facilitated by the Member States. The ERN for Rare Diseases 
will  have  a  strategic  role  in  the  improvement  of  quality  treatment  for  all  patients 
throughout the European Union as called by the patients' organisations10. 

5.2. 

Access to specialised social services 

Centres  of  expertise  may  also  have  an  essential  role  in  developing  or  facilitating 
specialised  social  services  which  will  improve  the  quality  of  life  of  people  living 
with  a  rare  disease.  Help  Lines,  Respite  care  services  and  Therapeutic  Recreation 
Programmes, have been supported11 and need to be sustainable to pursue their goals: 
awareness-raising, exchange of best practices and standards, pooling resources using 
Health Programme and the Disability Action Plans. 

5.3. 

Access to Orphan Drugs 

There are specific bottlenecks in access to orphan drugs through the decision making 
process  for  pricing  and  reimbursement  linked  to  rarity.  The  way  forward  is  to 
increase  collaboration  at  the  European  level  for  the  scientific  assessment  of  the 
(added) therapeutic value of Orphan Medicinal Products.  

The  Commission  will  set  up  a  working  party  to  exchange  knowledge  between 
Member States and European authorities on the scientific assessment of the clinical 
added  value  of  orphan  medicines.  These  collaborations  could  lead  to  non-binding 
common  clinical  added  value  assessment  reports  with  improved  information  that 
facilitate  the  national  pricing  and  reimbursement  decisions,  without  pre-empting 
respective roles of the authorities12. 

Furthermore,  the  involvement  of  the  EMEA  and  existing  international  Health 
the  Health  Technology  Assessment 
Technology  Assessment  networks  as 

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See  the  report  of  the  Rare  Diseases  Task  Force  “Overview  of  current  Centres  of  Reference  on  rare 
diseases in the EU (2005)” http://ec.europa.eu/health/ph_threats/non_com/rare_8_en.htm. 
http://ec.europa.eu/health/ph_threats/non_com/rare_8_en.htm 
See  the  report  of  the  high  level  group  on  health  services  and  medical  care  on  European  Reference 
networks http://ec.europa.eu/health/ph_threats/non_com/rare_8_en.htm. 
See  Report  of  the  European  Workshop  on  Centres  of  Expertise  and  Reference  Networks  for  Rare 
Disease, Prague, July 2007; 
http://www.eurordis.org/IMG/pdf/EU_workshop_report_3.pdf 
similar to those identified thanks to the EU-funded RAPSODY project  
http://ec.europa.eu/health/ph_projects/2005/action1/action1_2005_19_en.htm 
This as stipulated in the document "Improving access to orphan medicines for all affected EU citizens", 
adopted by the High level Pharmaceutical Forum. 

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International  (HTAi)13,  the  European  Network  for  Health  Technology  Assessment 
(EUnetHTA)14  or  the  Medicines  Evaluation  Committee  (MEDEV)15  should  be 
considered.  

5.4. 

Compassionate use programmes 

A  better  system  for  the  provision  of  medicines  to  rare  diseases  patients  before 
approval  and/or  reimbursement  (so-called  compassionate  use)  of  new  drugs  is 
needed.  

Under the existing pharmaceutical legislation, the EMEA may issue opinions on the 
use of the product under compassionate use to ensure a common approach across the 
Community.  

The Commission will invite the EMEA to revise their existing guideline with a view 
to providing patient access to treatment. 

5.5.  Medical devices 

The  Orphan  Medicinal  Product  regulation  does  not  cover  the  field  of  medical 
devices. The limited size of the market and the limited potential return on investment 
is a disincentive. The Commission will assess whether there is a need for measures to 
overcome  this  situation,  possibly  in  the  context  of  the  forthcoming  revision  of  the 
Medical Devices Directives.  

5.6. 

Incentives for Orphan Drug development 

Pharmaceutical  companies  invest  heavily  over  a  long  period  of  time  to  discover, 
develop  and  bring  to  market  treatments  for  rare  diseases. They  need  to  be  able  to 
show a return on investment. However, the ideal is that they are also able to reinvest 
that  return  on  investment  into  discovering  more  treatments. With  more  than  45 
treatments authorised in the EU – and some for the same conditions – there are still 
many  conditions  with  no  treatment. Exploring  additional  incentives  at  national  or 
European level to strengthen research into rare diseases and development of orphan 
medicinal  products,  and  Member  State  awareness  with  these  products  should  be 
encouraged in accordance with Article 9 of Regulation (EC) No 141/2000. 

5.7. 

e-Health 

eHealth  can  contribute  in  a  number  of  different  ways  to  this  area,  in  particular 
through: 

–  Electronic  online-services  developed  by  Orphanet  and  by  other  EU  funded 
projects,  are  a  clear  demonstration  of  how  Information  and  Communication 
Technology (ICT) can contribute to putting patients in contact with other patients 
and  developing  patient  communities,  to  sharing  databases  between  research 
groups,  to  collecting  data  for  clinical  research,  to  registering  patients  willing  to 
participate in clinical research, and to submitting cases to experts which improve 
the quality of diagnoses and treatment; 

–  Telemedicine,  the  provision  of  healthcare  services  at  a  distance  through  ICT,  is 
another  useful  tool.  It  can,  for  instance,  enable  to  bring  highly  specialised 

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http://www.htai.org/ 
http://www.eunethta.net/ 
http://www.esip.org/publications/pb51.pdf 

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expertise  on  rare  diseases  to  ordinary  clinics  and  practices,  such  as  a  second 
opinion from a centre of excellence16; 

–  Research  funded  under  FP717  in  the  area  of  computer  assisted  modelling  of 
physiological  and  pathological  processes  is  a  promising  approach  to  help 
understanding better the underlying factors of rare diseases, predicting outcomes 
and possibly finding new treatment solutions. 

5.8. 

Screening practices 

Neonatal  screening  for  Phenylketonuria  and  congenital  hypothyroidism  is  current 
practice  in  Europe  and  proved  highly  efficient  in  preventing  disabilities  in  affected 
children. As technology evolves, many tests can now be performed, including those 
by  robots,  at  low  cost  for  a  wide  range  of  rare  diseases,  especially  metabolic 
disorders  and  genetic  conditions  in  general.  It  is  recommended  to  encourage 
cooperation in this area to generate evidence on which decisions should be based at 
Member  States  level.  An  evaluation  of  current  population  screening  (including 
neonatal  screening)  strategies  for  rare  diseases  and  of  potential  new  ones,  will  be 
conducted  by  the  Commission  at  EU  level  to  provide  Member  States  with  the 
evidence  (including  ethical  aspects)  on  which  to  base  their  political  decision.  The 
Commission will consider such support as a priority for action. 

5.9. 

Quality management of diagnostic laboratories 

Many  rare  diseases  can  now  be  diagnosed  using  a  biological  test  which  is  often  a 
genetic test. These tests are major elements of an appropriate patient’s management 
as  they  allow  an  early  diagnosis,  sometimes  a  familial  cascade  screening  or  a 
prenatal test. Given the large number of tests and the need to design and validate a 
specific set of diagnostic assays for each, no single country can be self-sufficient in 
the  provision  of  testing  and  in  an  efficient  external  quality  assessment  of  the 
provided  tests.  There  is  a  need  to  enable  and  facilitate  the  exchange  of  expertise 
through clearly stated, transparent, EU agreed standards and procedures. 

This could be achieved through the establishment of European reference networks of 
expert  diagnostic  laboratories  (e.g.  EuroGenTest18).  These  laboratories  will  be 
encouraged  to  participate  in  proficiency  testing  with  special  attention  to  result  in 
reporting and in the provision of pre- and post-test genetic counselling19.  

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19 

Draft Communication on Telemedicine for the benefit of patients, healthcare systems and society. 
http://ec.europa.eu/information_society/activities/health/research/fp7vph/index_en.htm  
See http://www.eurogentest.org/. 
Helping  people  faced  with  a  diagnosis  of  genetic  disease  to  understand  both  the  factual  information 
about the disease and the effect it will have on their lives, so that they can reach their own decisions 
about the future.  

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5.10. 

Primary prevention 

There  are  very  few  rare  diseases  for  which  a  primary  prevention  is  possible.  Still, 
primary  preventive  measures  for  rare  diseases  will  be  taken  when  possible  (e.g. 
prevention of neural tube defects by Folic Acid supplementation). Action in this field 
should  be  the  topic  for  a  debate  at  EU  level  led  by  the  Commission  aiming  to 
determine for which rare diseases primary preventive measures may be successful.  

5.11.  Registries and databases 

Registries  and  databases  constitute  key  instruments  to  increase  knowledge  on  rare 
diseases and develop clinical research. They are the only way to pool data in order to 
achieve a sufficient sample size for epidemiological research and/or clinical research. 
Collaborative  efforts  to  establish  data  collection  and  maintain  them  will  be 
considered, provided that these resources are open and accessible. A key issue will 
also  be  to  ensure  the  long-term  sustainability  of  such  systems,  rather  than  having 
them funded on the basis of inherently precarious project funding. This idea was also 
elaborated  in  the  document  "Improving  access  to  orphan  medicines  for  all  affected 
EU citizens", adopted by the High level Pharmaceutical Forum. 

5.12.  Research and Development 

For most severe rare diseases that would potentially be treatable, there is simply no 
current specific treatment. The development of therapies faces three hurdles: the lack 
of understanding of underlying pathophysiological mechanisms, the lack of support 
of  early  phases  of  clinical  development  and  the  lack  of  opportunity/cost  perception 
from  the  pharmaceutical  industry.  Indeed,  the  high  cost  of  drug  development, 
together  with  the  estimated  low  return  on  investment  (due  to  very  small  patient 
populations),  has  usually  discouraged  the  pharmaceutical  industry  from  developing 
drugs for rare diseases, despite the huge medical need.  

A  process  of  early  dialogue  regarding  medicines  under  development  should  be 
established  between  these  companies  and  authorities  funding  medicines20  This  will 
give  the  sponsoring  company  more  certainty  on  its  potential  future  return  and  will 
give  authorities  more  knowledge  and  trust  in  the  value  of  medicines  it  will  be 
requested to assess and fund. 

the  European  Community  Framework  Programmes 

Rare  diseases  research  projects  have  been  supported  for  more  than  two  decades 
through 
for  Research, 
Technological Development and Demonstration Activities. In the current Framework 
Programme, the FP721, the Health Theme of the "Cooperation" Specific Programme, 
is  designed  to  support  multinational  collaborative  research  in  different  forms.  The 
main focus of the Health theme in the rare diseases area are Europe-wide studies of 
natural history, pathophysiology, and the development of preventive, diagnostic and 
therapeutic interventions.  

The  EU  Advisory  Committee  on  Rare  Diseases  (EUACRD,  see  point  7)  and  the 
Committee  for  Orphan  Medicinal  Products  (COMP)  in  the  European  Medicines 
Agency (EMEA) will address to the Commission an annual joint recommendation on 

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21 

This as stipulated in the document "Improving access to orphan medicines for all affected EU citizens", 
adopted by the High level Pharmaceutical Forum. 
See http://cordis.europa.eu/fp7/home_en.html. 

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specific  points  for  the  calls  for  proposals  in  the  implementation  of  the  framework 
programmes. 

Coordination projects aimed at an optimal use of the limited resources dedicated to 
research  on  rare  diseases  should  be  encouraged.  As  an  example,  the  EU  FP6-
supported  ERANet  project  (E-Rare)22  currently  coordinating  the  research  funding 
policies for rare diseases of seven countries contributes to tackling the fragmentation 
of research efforts. Such approaches should be given due consideration. 

6. 

INTERNATIONAL COOPERATION 

The Commission policy on rare diseases should aim at fostering cooperation on rare 
diseases  at  an  international  level  with  all  interested  countries  and  in  close 
collaboration  with  the  World  Health  Organisation.  International  cooperation  is 
already an integral part of the Framework Programmes for Research. 

7. 

GOVERNANCE AND MONITORING 

The Commission should be assisted by an EU Advisory Committee on Rare Diseases 
(EUACRD)  to  advise  on  implementation  of  this  Communication.  The  Committee 
will  be  chaired  by  the  European  Commission  and  will  be  assisted  by  a  Scientific 
Secretariat,  supported  through  the  Health  Programme.  This  committee  will  replace 
the current EU Rare Diseases Task Force.  

The  organisation  of  a  European  Rare  Diseases  day  (29  February,  a  rare  day)  and 
European conferences to raise awareness of professionals and of the  general public 
will also be encouraged. 

The  Commission  will  produce  an  implementation  report  on  this  Communication  -
addressed  to  the  European  Parliament,  the  Council,  the  European  Economic  and 
Social Committee and the Committee of the Regions on the basis of the information 
provided by Member States, not later than five years after the date of adoption of this 
Communication.  This  report  should  be  addressed  at  the  same  time  as  the 
implementation  report  to  be  produced  on  the  Council  Recommendation  on  rare 
diseases. 

8. 

CONCLUSION 

Although  each  rare  disease  only  affects  a  relatively  small  number  of  patients  and 
families,  taken  as  a  whole  they  represent  a  serious  health  burden  for  the  EU. 
Moreover, the need to bring together expertise and make efficient use of the limited 
available resources means that rare diseases is an area where European cooperation 
can add particular value to the  actions of the Member States. The Commission  has 
already taken individual initiatives in the past, such as the rare diseases programme, 
the regulation on orphan medicinal products, and the attention to rare diseases within 
the  Framework  Programmes 
technological  development  and 
research, 
demonstration  activities.  But  more  action  is  needed  to  ensure  that  these  individual 
strands  of  work  are  sustained  and  brought  together  into  a  coherent  overall  strategy 
for  rare  diseases,  both  at  Community  level  and  within  Member  States,  in  order  to 
maximise the potential for cooperation overall.  

for 

22 

See http://www.e-rare.eu/cgi-bin/index.php. 

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this  Communication  and 

With 
the  accompanying  proposal  for  a  Council 
Recommendation, the Commission aims to put in place that overall strategy for rare 
diseases. This offers the potential to maximise the scope for cooperation and mutual 
support  in  this  challenging  area  across  Europe  as  a  whole.  It  will  support  Member 
States in putting in place their own national and regional strategies for rare diseases. 
And by doing so, it will provide the patients  and families affected by rare diseases 
with a tangible benefit from European integration in their daily lives. 

EN 

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   EN