Proposal for a Council recommendation on a European action in the field of rare diseases {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) 726 final 

Proposal for a 

COUNCIL RECOMMENDATION 

on a European action in the field of rare diseases 

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

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Proposal for a 

COUNCIL RECOMMENDATION 

on a European action in the field of rare diseases 

THE COUNCIL OF THE EUROPEAN UNION, 

Having regard to the Treaty establishing the European Community, and in particular Article 
152(4), second subparagraph, thereof, 
Having regard to the proposal from the Commission1, 
Having regard to the opinion of the European Parliament2, 
Having regard to the opinion of the European Economic and Social Committee3, 
Having regard to the opinion of the Committee of the Regions4, 

Whereas: 

(1) 

(2) 

(3) 

(4) 

(5) 

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Rare  diseases  are  a  threat  to  the  health  of  European  citizens  insofar  as  they  are  life-
threatening or chronically debilitating diseases with a low prevalence and a high level 
of complexity. 

A  Community  Action  Programme  on  Rare  Diseases,  including  genetic  diseases,  was 
adopted for the period 1 January 1999 to 31 December 20035. This programme defined 
the prevalence for a rare disease as affecting no more than 5 per 10 000 persons in the 
European Union.  

Regulation  (EC)  No  141/2000  of  the  European  Parliament  and  of  the  Council  of 
16 December, 1999, on orphan medicinal products provides that a medicinal product 
shall be designated as an "orphan medicinal product" when intended for the diagnosis, 
prevention  or  treatment  of  a  life-threatening  or  chronically  debilitating  condition 
affecting not more than 5 in 10 000 persons in the Community when the application is 
made. 

It is estimated that between 5 000 and 8 000 distinct rare diseases exist today, affecting 
between  6%  and  8%  of  the  population  in  the  course  of  their  lives.  In  other  words, 
between 27 and 36 million people in the European Union. Most of them suffer from 
less frequently-occurring diseases affecting one in 100 000 people or less. 

Because  of  their  low  prevalence  and  their  specificity,  rare  diseases  call  for  a  global 
approach  based  on  special  and  combined  efforts  to  prevent  significant  morbidity  or 
avoidable  premature  mortality,  and  to  improve  quality  of  life  and  socio-economic 
potential of affected persons. 

OJ C , , p. . 
OJ C , , p. . 
OJ C , , p. . 
OJ C , , p. . 
Decision no 1295/1999/EC of the European Parliament and of the Council of 29 April 1999 adopting a 
programme of Community action on rare diseases within the framework for action in the field of public 
health (1999 to 2003). 

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(6) 

(7) 

(8) 

(9) 

Rare  diseases  were  one  of  the  priorities  of  the  Community’s  Sixth  Framework 
Programme  for  research,  technological  development  and  demonstration  activities 
(2002-2006), and continue to be a priority for action in the new Seventh Framework 
Programme  for  research,  technological  development  and  demonstration  activities 
(2007-2013)6 as developing new diagnostics and treatments for rare disorders, as well 
as  performing  epidemiological  research  on  those  disorders,  requires  multi-country 
approaches to increase the number of patients for each study. 

The Commission, in its White Paper “Together for Health: A Strategic Approach for 
the EU 2008-2013” of 23 October 2007 developing the EU Health Strategy7 identified 
rare diseases as a priority for action. 

In  order  to  improve  the  coordination  and  coherence  of  national,  regional  and  local 
initiatives  addressing  rare  diseases,  all  relevant  national  actions  in  the  field  of  rare 
diseases should be integrated into national plans for rare diseases.  

According to the database Orphanet, on the 5 863 rare diseases known and for which a 
clinical  identification  is  possible,  only  250  rare  diseases  have  a  code  in  the  existing 
International  Classification  of  Diseases  (10th  version).  An  appropriate  classification 
and  codification  of  all  the  rare  diseases  is  necessary  for  giving  them  the  necessary 
visibility and recognition in the national health systems. 

(10)  The World Health Organisation (hereinafter "WHO") launched in 2007 the process of 
revision of the 10th version of the International Classification of Diseases in order to 
adopt  in  the  World  Health  Assembly  in  2014  the  new  11th  version  of  this 
classification. The WHO has appointed the European Union Rare Diseases Task Force 
as  Topic  Advisory  Group  on  Rare  Diseases  in  order  to  contribute  to  this  process  of 
revision providing proposals for codification and classification of rare diseases. 

(12) 

(11)  The  implementation  of  a  common  identification  of  rare  diseases  by  all  the  Member 
States  would  highly  reinforce  the  contribution  of  the  European  Union  in  this  Topic 
Advisory Group and would facilitate the cooperation at Community level in the field 
of rare diseases. 
In July 2004, a High Level Group on health services and medical care was established8 
to  bring  together  experts  from  all  Member  States  to  work  on  practical  aspects  of 
collaboration between national health systems in the EU. One of the working groups 
of  this  High  Level  Group  is  focusing  on  European  Reference  Networks  (ERNs)  for 
rare  diseases9.  Some  principles  have  been  developed,  including  their  role  in  tackling 
rare diseases, and some criteria that such centres should fulfil. ERNs should also serve 
as  research  and  knowledge  centres,  treating  patients  from  other  Member  States  and 
ensuring the availability of subsequent treatment facilities where necessary.  

(13)  The Community added-value of European reference networks is particularly high for 
rare  diseases  by  reason  of  the  rarity  of  these  conditions,  which  implies  both  limited 
number  of  patients  and  scarcity  of  expertise  within  a  single  country.  Gathering 

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http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2006:412:0001:0041:EN:PDF 
See http://ec.europa.eu/health/ph_overview/strategy/health_strategy_en.htm 
In response to the High-level reflection process the Commission adopted a Communication on patient 
mobility  and  healthcare  developments  in  the  EU  -  COM(2004)  301,  20.4.2004  -  and  established  a 
mechanism for taking forward the work set out in the Communication. 
http://ec.europa.eu/health/ph_threats/non_com/rare_8_en.htm 

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expertise  at  European  level  is  therefore  paramount  to  ensure  equal  access  to  high 
quality care to rare disease patients. 

(14) 

In  December  2006  an  expert  group  of  the  European  Union  rare  diseases  task  force 
issued  a  report  “Contribution  to  policy  shaping:  For  a  European  collaboration  on 
health services and medical care in the field of rare diseases”10 to the EC’s High Level 
Group  on  Health  Services  and  Medical  Care.  The  expert  group  report  outlines,  inter 
alia,  the  importance  of  identifying  centres  of  expertise  at  national  and  regional  level 
and the roles that such centres should fulfil. Some measures called for in the report are 
included in this recommendation. 

(15)  Cooperation and knowledge sharing between national and regional centres of expertise 

proved to be the most efficient approach to deal with rare diseases in Europe. 

(16)  The  national  and  regional  centres  of  expertise  should  follow  a  multidisciplinary 
approach to care which would integrate medical and social aspects, in order to address 
the complex and diverse conditions implied by rare diseases. 

(17)  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  added 
value  of  action  at  Community  level.  This  added  value  can  especially  be  achieved 
through gathering national expertise on rare diseases which is scattered throughout the 
Member States.  

(18) 

It is of utmost importance to ensure an active contribution of the Member States to the 
elaboration of some of the common instruments foreseen in the Communication of the 
Commission  on  rare  diseases,  especially  European  reference  opinions  on  diagnostics 
and  medical  care  and  European  guidelines  on  population  screening.  This  should  be 
also  the  case  for  the  assessment  reports  on  the  therapeutic  added  value  of  orphan 
medicinal  products,  which  could  contribute  to  accelerate  the  price  negotiation  at 
national  level,  thereby  reducing  delays  for  access  to  orphan  drugs  for  rare  diseases 
patients. 

(19)  The  WHO  defined  empowerment  of  patients  as  a  “pre-requisite  for  health”  and 
encouraged  a  “proactive  partnership  and  patient  self-care  strategy  to  improve  health 
outcomes  and  quality  of  life  among  the  chronically  ill”11.  In  this  sense,  the  role  of 
patient groups is crucial both in terms of direct support to individuals living with the 
disease, and in terms of the collective work they carry out to improve conditions for 
the community of rare disease patients as a whole and for the next generations. 

(20)  Patients  and  patients’  representatives  should  therefore  be  involved  at  all  steps  of  the 
policy  and  decision-making  processes.  Their  activities  should  be  actively  promoted 
and supported, including financially, in each Member State.  

(21)  The development of research and healthcare infrastructures in the field of rare diseases 
requires  long-lasting  projects  and  therefore  an  appropriate  financial  effort  to  ensure 
their sustainability in the long term. This effort would notably maximise the synergy 
with  the  projects  developed  under  the  Community  Health  Programme  (2008-2013), 
the Community 7th Framework Programme for Research, Technological Development 
and Demonstration Activities (2007-2013) and the successors of these programmes. 

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http://ec.europa.eu/health/ph_threats/non_com/docs/contribution_policy.pdf  
http://www.euro.who.int/Document/E88086.pdf 

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HEREBY RECOMMENDS THAT MEMBER STATES: 

1. 

Establish  national  plans  for  rare  diseases  in  order  to  ensure  to  patients  with  rare 
diseases universal access to high quality care, including diagnostics, treatments and 
orphan drugs throughout their national territory on the basis of equity and solidarity 
throughout the EU, and in particular: 

(1) 

(2) 

(3) 

(4) 

(5) 

elaborate  and  adopt  a  comprehensive  and  integrated  strategy,  by  the  end  of 
2011, aimed at guiding and structuring all relevant actions in the field of rare 
diseases in the form of a national plan for rare diseases;  

take  action  to  ensure  that  all  current  and  future  initiatives  at  regional  and 
national levels are integrated into their national plan; 

define  a  limited  number  of  priority  actions  within  the  national  plan  for  rare 
diseases,  with  concrete  objectives,  clear  deadlines,  management  structures 
and regular reports; 

support  the  development  of  guidelines  and  recommendations  for  the 
elaboration  of  national  action  for  rare  diseases  by  relevant  authorities  at 
national  level  in  the  framework  of  the  ongoing  European  Project  for  Rare 
Diseases  National  Plans  Development  (EUROPLAN)  selected  for  funding 
over the period 2007-2010 in the Public Health Programme; 

include in the national plans provisions designed to ensure equitable access to 
high  quality  care,  including  diagnostics,  treatments  and  orphan  drugs,  to  all 
rare  disease  patients  throughout  their  national  territory  with  a  view  to 
ensuring equitable access to quality care on the basis of equity and solidarity 
throughout the European Union. 

2. 

Adequate definition, codification and inventorying of rare diseases 

(1) 

(2) 

(3) 

(4) 

implement  a  European  Union  common  definition  of  rare  diseases  as  those 
diseases affecting no more than 5 per 10 000 persons; 

ensure  that  rare  diseases  are  adequately  coded  and  traceable  in  all  health 
information systems, contributing to an adequate recognition of the disease in 
the national health care and reimbursement systems;  

contribute  actively  to  the  establishment  of  the  European  Union  dynamic 
inventory of rare diseases as referred to in the Communication; 

support  at  national  or  regional  level  specific  disease  information  networks, 
registries and databases.  

3. 

Research on rare diseases 

(1) 

(2) 

(3) 

(4) 

identify ongoing research projects and existing research resources in order to 
establish the state of the art in the area of rare diseases; 

identify  needs  and  priorities  for  basic,  clinical  and  translational  research  in 
the field of rare diseases, as well as priorities for social research; 

foster  participation  of  national  researchers  and  laboratories  in  research 
projects on rare diseases funded at Community level; 

include  in  the  national  plan  for  rare  diseases  provisions  aimed  at  fostering 
research,  including  public  health  and  social  research,  in  the  field  of  rare 

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diseases,  especially  with  a  view  to  the  development  of  tools  such  as 
transversal infrastructures as well as disease-specific projects. 

4. 

Centres of expertise and European reference networks for rare diseases 

(1) 

(2) 

(3) 

(4) 

(5) 

identify  national  or  regional  centres  of  expertise  throughout  their  national 
territory  by  the  end  of  2011,  and  foster  the  creation  of  centres  of  expertise 
where  they  do  not  exist  notably  by  including  in  their  national  plan  for  rare 
diseases  provisions  on  the  creation  of  national  or  regional  centres  of 
expertise; 

foster  the  participation  of  national  or  regional  centres  of  expertise  into 
European reference networks and provide adequate, long-term public funding 
in order to ensure their sustainability and thus continuity of care for patients. 

organise  healthcare  pathways  for  patients  through  the  establishment  of 
cooperation  with  relevant  experts  within  the  country  or  from  abroad  when 
necessary;  cross-border  healthcare,  including  mobility  of  patients,  health 
professionals and providers and provision of services through information and 
communication  technologies  should  be  supported  where  it  is  necessary  to 
ensure universal access to the specific healthcare needed;  

ensure  that  national  or  regional  centres  of  expertise  are  based  on  a 
multidisciplinary  approach  to  care  when  addressing  complex  and  diverse 
conditions such as rare diseases; and promote the integration of medical and 
social levels within the centres; 

ensure  that  national  or  regional  centres  of  expertise  adhere  to  the  standards 
defined by the European reference networks for rare diseases taking into due 
account the needs and expectations of patients and professionals.  

5. 

Gathering at European level the expertise on rare diseases  

(1) 

ensure  mechanisms  to  gather  national  expertise  on  rare  diseases  and  pool  it 
together with European counterparts in order to support the development of: 

(a) 

(b) 

(c) 

common protocols and recommendations such as European reference 
opinions on diagnostic tools, medical care, education and social care; 

European guidelines on population screening and diagnostic tests; 

sharing  Member  State's  assessment  reports  on  the  therapeutic  added 
value  of  orphan  drugs  at  EU  level,  in  order  to  minimise  delays  for 
access to orphan drugs for rare disease patients; 

6. 

Empowerment of patient organisations 

(1) 

(2) 

take  action  to  ensure  that  patients  and  patients’  representatives  are  duly 
consulted at all steps of the policy and decision-making processes in the field 
of rare  diseases, including  for the establishment  and  management  of  centres 
of  expertise  and  of  European  reference  networks  and  for  the  elaboration  of 
national plans; 

support the activities performed by patient organisations, such as awareness-
raising,  capacity-building  and  training,  exchange  of  information  and  best 
practices, networking, outreach to very isolated patients; 

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(3) 

include in the national plans for rare diseases provisions on the support to and 
the consultation of patient organisations as referred to in paragraphs (1) and 
(2). 

7. 

Sustainability 

(1) 

(2) 

(3) 

ensure  through  appropriate  funding  mechanisms  the  long-term  sustainability 
of research infrastructures, such as biobanks, databases and registries, and of 
healthcare  infrastructures  such  as  centres  of  expertise,  as  well  as  European 
reference networks for rare diseases; 

cooperate with other Member States to address the need for sustainability of 
European-wide  research  infrastructures,  common  to  all  Member  States  and 
common to the highest possible number of rare diseases;  

include  in  the  national  plan  for  rare  diseases  provisions  on  the  need  for 
addressing the issue of financial sustainability for activities in the field of rare 
diseases. 

HEREBY INVITES THE COMMISSION: 

1. 

2. 

To  produce  an  implementation  report  on  this  Recommendation  addressed  to  the 
Council,  the  European  Parliament,  the  European  Economic  and  Social  Committee 
and  the  Committee  of  the  Regions  on  the  basis  of  the  information  provided  by  the 
Member States, not later than in the end of the fifth year after the date of adoption of 
this  Recommendation,  to  consider  the  extent  to  which  the  proposed  measures  are 
working effectively, and to consider the need for further action. 

To inform the Council on the follow-up of the Communication of the Commission on 
rare diseases on a regular basis. 

Done at Brussels,  

For the Council 
The President 

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