Commission staff working document Accompanying the 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 and the Proposal for a Council Recommendation on a European action in the field of rare diseases - Impact assessment {COM(2008) 679} {SEC(2008) 2711} {SEC(2008) 2713}
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 
SEC(2008) 2712 

COMMISSION STAFF WORKING DOCUMENT 

Accompanying the 

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 

and the 

Proposal for a 

COUNCIL RECOMMENDATION 

on a European action in the field of rare diseases 

IMPACT ASSESSMENT 

{COM(2008) 679} 
{SEC(2008) 2711} 
{SEC(2008) 2713} 

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TABLE OF CONTENTS 

1. 

2. 

2.1. 

2.2. 

Executive Summary ..................................................................................................... 4 

Procedural Issues and Consultation of Interested Parties ............................................ 4 

Organisation and Timing.............................................................................................. 4 

Consultation and Expertise .......................................................................................... 5 

2.2.1.  Stakeholder Consultation ............................................................................................. 5 

2.2.2.  European Conference on Rare Diseases ...................................................................... 5 

2.2.3. 

Inter-Service Steering Group ....................................................................................... 6 

2.2.4.  Public Consultation ...................................................................................................... 6 

2.2.5. 

Impact Assessment Board ............................................................................................ 6 

3. 

3.1. 

3.2. 

4. 

4.1. 

4.2. 

4.3. 

Introduction .................................................................................................................. 7 

Introduction to Rare Diseases ...................................................................................... 7 

The contribution of the ongoing EU actions to create best practices........................... 9 

Problem Definition..................................................................................................... 10 

Lack of Recognition and Visibility of Rare Diseases ................................................ 10 

Lack of Policies on Rare Diseases in the Member States .......................................... 10 

Lack of Effective Healthcare, Research, and Regulation for Rare Diseases in Europe
.................................................................................................................................... 11 

4.3.1. 

Inequitable Access to Expert Healthcare ................................................................... 11 

4.3.2.  Fragmented Research ................................................................................................. 12 

4.3.3. 

Insufficient Legislative Framework ........................................................................... 12 

4.4. 

Subsidiarity ................................................................................................................ 12 

4.4.1.  Necessity Test ............................................................................................................ 13 

4.4.2.  Added-Value Test ...................................................................................................... 14 

5. 

5.1. 

5.2. 

5.3. 

6. 

6.1. 

6.2. 

6.3. 

7. 

7.1. 

7.2. 

Objectives................................................................................................................... 14 

Improving Recognition and Visibility on Rare Diseases........................................... 15 

Supporting Policies on Rare Diseases in the Member States..................................... 15 

Developing European cooperation, coordination, and regulation for rare diseases... 15 

Policy Options............................................................................................................ 16 

Baseline Option.......................................................................................................... 16 

Commission Communication and Proposal for a Council Recommendation............ 16 

Re-establish Formal Rare Diseases Programme ........................................................ 17 

Analysis of impacts .................................................................................................... 18 

Baseline Option.......................................................................................................... 19 

Commission Communication and Proposal for a Council Recommendation............ 20 

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7.3. 

Re-establish Formal Rare Diseases Programme ........................................................ 21 

8. 

8.1. 

8.2. 

8.3. 

Comparing the Options .............................................................................................. 22 

Improving Recognition and Visibility of Rare Diseases............................................ 22 

Supporting Policies on Rare Diseases in the Member States..................................... 23 

Developing European Cooperation, Coordination, and Regulation for Rare Diseases
.................................................................................................................................... 23 

8.4. 

Summary .................................................................................................................... 24 

9. 

Monitoring and evaluation ......................................................................................... 24 

9.1. 

Data Collection........................................................................................................... 24 

9.1.1.  Demography, Epidemiology, and Health Status ........................................................ 24 

9.1.2.  Determinants of Health and Socio-economic Factors................................................ 25 

9.1.3.  Health Services........................................................................................................... 25 

9.1.4.  Research and Technology Development.................................................................... 25 

9.1.5.  Equity, Regional Differences, and EU Initiatives...................................................... 25 

9.2. 

10. 

Comitology and Monitoring Mechanism ................................................................... 25 

Annexes...................................................................................................................... 26 

10.1. 

List of Diseases by Decreasing Prevalence................................................................ 26 

10.2. 

Previous and Ongoing Activities ............................................................................... 32 

10.3.  Results of the EURORDIS Survey ............................................................................ 35 

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1. 

EXECUTIVE SUMMARY 

Based  on  present  scientific  knowledge,  there  are  between  5 000  and  8 000  distinct  rare 
diseases that affect up to 6% of the total EU population at one point in life. In other words, 
this equates to between 29 and 36 million people in the European Union 27 Member States 
that are, or will be, affected by a rare disease. 

Rare  diseases  present  a  special  case  to  public  health  systems  due  to  their  specific 
characteristics,  vast  number  and  diversity,  low  patient  density,  limited  resources,  limited 
access to experts, and difficulties with effective treatment. There is probably no other area in 
public  health  in  which  27  national  approaches  could  be  considered  as  inefficient  and 
ineffective  as  with  rare  diseases.  The  reduced  number  of  patients  for  these  diseases  and  the 
need to mobilise resources means that the scale and nature of effective action makes action at 
European level in support of the Member States relevant, in accordance with Article 152 of 
the Treaty establishing the European Community. 

The  definition  of  the  main  problems  posed  by  rare diseases  can categorised  into three main 
areas:  (i)  lack  of  recognition  and  visibility  of  rare  diseases;  (ii)  lack  of  strategies  for  rare 
diseases  in  the  Member  States;  and  (iii)  lack  of  European  cooperation,  coordination,  and 
regulation  for  rare  diseases.  The  problems  identified  in  this  final  category  can  be  further 
defined  as  inequitable  access  to  healthcare,  limited  research,  and  an  insufficient  and 
incoherent legislative framework within the European Union. 

Thus, there is a need to act in a cohesive manner, as there is no effective way in which the 
Member States can ensure proper recognition and visibility of rare diseases on their own. This 
initiative would give formal visibility and recognition to this process, which also provides the 
opportunity to follow through with solutions to many of the problems posed by rare diseases 
that have been outlined above and will be discussed further in this Impact Assessment. 

On this basis, the preferred option is to set out a Community strategy for rare diseases set out 
in a Commission Communication, focusing on: 

•  ensuring  appropriate  codification  and  classification  of  rare  diseases  and  facilitating  the 
acquisition,  provision  and  dissemination  of  scientific  information  on  rare  diseases  for 
patients and clinicians;  

•  a  proposal  for  a  Recommendation  of  the  Council  on  establishment  of  coherent  and 
comprehensive  strategies  for  rare  diseases  in  the  Member  States,  based  on  Article  152 
TEC. 

2. 

PROCEDURAL ISSUES AND CONSULTATION OF INTERESTED PARTIES 

2.1. 

Organisation and Timing 

A White Paper on a European Action in the Field of Rare Diseases (Rare Diseases: Europe's 
Challenges)  was  included  as  a  strategic  initiative  in  the  Commission's  Legislative  Work 
Programme for 20081, with DG SANCO as the lead Directorate General. Work on the Impact 
Assessment began after the completion of the Roadmap in late October 2006, and concluded 
in  May  2008.  The  Impact  Assessment  Board  was  consulted  on  18  June  2008,  and  its 
comments  have  been  incorporated  into  the  final  version  of  the  Impact  Assessment.  The 
proposals envisaged are intended to be adopted in autumn 2008. 

1 

http://ec.europa.eu/atwork/programmes/docs/clwp2008_en.pdf 

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2.2. 

Consultation and Expertise 

2.2.1. 

Stakeholder Consultation 

The EU Task Force on Rare Diseases (RDTF) was set up in January 2004 by the European 
Commission's Public Health Directorate. Its aims are: 

•  to  advise  and  assist  the  European  Commission  in  promoting  the  optimal  prevention, 
diagnosis  and  treatment  of  rare  diseases  in  Europe,  in  recognition  of  the  unique  added 
value to be gained for rare diseases through European coordination; 

•  to  provide  a  forum  for  discussion  and  exchange  of  views  and  experience  on  all  issues 

related to rare diseases. 

The Task Force is led by Dr. Ségolène Aymé, medical geneticist and director of the Orphanet 
database of rare diseases. The Deputy Leader is Professor Helen Dolk, director of the Eurocat 
programme  on  congenital  disorders.  It  currently  has  36  members  comprising  current  and 
former  project  leaders  of  European  research  projects  related  to  rare  diseases,  Member  State 
experts and representatives from relevant international organisations.  

After the preparation of the First Draft of the Public Consultation on a European Action in the 
Field of Rare Diseases, the first presentation of the strategic orientations of this Consultation 
took place in the EU Task Force on Rare Diseases on 20 June, 2007. The RDTF decided to 
appoint  a  Drafting  Group  to  support  the  European  Commission  on  a  voluntary  basis  in  the 
preparation  of  the  text  for  the  Public  Consultation.  This  Drafting  Group  consisted  of  six 
experts in the field of rare diseases. The Drafting Group met on 11 July and 15 October, 2007. 

The First Draft of the Public Consultation on a European Action in the Field of Rare Diseases 
prepared by the Drafting Group and the European Commission was submitted for discussion 
with the most relevant stakeholders at the following meetings: 

•  The  European  Workshop  on  Reference  Networks  on  Rare  Diseases  (Prague,  Czech 

Republic, 11-13 July, 2008) 

•  The EU Task Force on Rare Diseases (Luxembourg, 23 October, 2007) 

•  The Annual International Conference on Rare Diseases and Orphan Drugs organised by the 

Italian authorities (Rome, 5-8 November, 2007) 

•  The  Committee  for  Orphan  Medicinal  Products  from  the  European  Medicines  Agency 

(London , 5 February, 2008) 

•  The Working Group on European Reference Networks from the High Level Committee on 

Health Care (Brussels, 30 January, 2008) 

•  A  discussion  with  the  patients’  organisations  was  organised  during  the  European 

Conference on Rare Diseases (see point 2.2.2). 

After the conclusion of the Public Consultation, the Drafting Group met on 13 February, in 
order to help the Commission in the analysis of the results of the Public Consultation and for 
the  preparation  of  the  final  text  of  the  Commission  Communication  and  the  Council 
Recommendation. 

2.2.2.  European Conference on Rare Diseases 
The 4th European Conference on Rare Diseases was organised in Lisbon on 26-28 November, 
2007,  under  the  Portuguese  Presidency  of  the  Council.  During  the  conference,  the  Public 
Consultation regarding European Action in the Field of Rare Diseases was officially launched 
by  Andrzej  Ryś  (Director  of  Public  Health  at  the  European  Commission)  in  the  opening 

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speech of the Conference. Questions formulated in the Public Consultation refer to the main 
topics affecting rare diseases: definition of rare diseases, classification, and codification, need 
of  a  European  inventory  of  rare  diseases,  equity  of  citizens’  access  to  orphan  drugs, 
coordination  of  compassionate  use  of  orphan  drugs,  antenatal  screening,  specialised  social 
services,  reference  networks,  research,  etc.  The  conference  was  attended  by  500  persons 
representing all the stakeholders acting in the rare diseases community. 

2.2.3. 

Inter-Service Steering Group 

An Inter-Service Steering Group was set up for the Public Consultation and met in Brussels 
on 28 January. DGs participating were SANCO, RTD, DEV, ENTR, ESTAT, SG and EMPL. 
As well as offering input into the development of this Impact Assessment, the group members 
contributed to a mapping exercise on their work on rare diseases. 

2.2.4.  Public Consultation 

In  total,  584  responses  were  received,  including  contributions  from  15  Member  States.  Key 
outcomes were that stakeholders want a comprehensive approach to rare diseases issues in the 
EU.  All  the  answers  consider  that  the  national  or  regional  level  is  insufficient  to  offer 
adequate alternatives to the problem. The EU level is retained in 100% of answers as the most 
appropriate.  There  was  a  general  support  for  a  new  overarching,  strategic  and  coherent 
framework  for  rare  diseases  policy  in  the  near  future.  The  vast  majority  supported  the  ten 
broad priorities proposed by the Commission:  

(1) 

(2) 

(3) 

(4) 

(5) 

(6) 

(7) 

(8) 

(9) 

to improve information, identification and knowledge on rare diseases; 

to support implementation of National Plans for Rare Diseases; 

to improve prevention, diagnosis and care of patients with Rare Diseases; 

to develop national/regional centres of reference and establish EU reference networks; 

to ensure equitable access to all EU patients to orphan drugs and compassionate use; 

to develop specialised and adapted social services for rare diseases patients; 

to  accelerate  research  and  developments  in  the  field  of  Rare  Diseases  and  Orphan 
Drugs in order to strengthen at European level the limited and scattered expertise on 
rare diseases; 

to empower patients with Rare Diseases at individual and collective level; 

to develop the international cooperation on rare diseases; 

(10) 

to coordinate the policies and initiatives at EU level. 

Only in this last point do certain controversies appear referring to whether or not to create a 
European  Agency  on  Rare  Diseases.  Key  outcomes  of  the  consultation  meetings  have  also 
been fed into this paper. 

2.2.5. 

Impact Assessment Board 

The  Impact  Assessment  Board  was  consulted  on  18  June  2008.  Following  the  Board’s 
opinion,  the  following  important  modifications,  amongst  others,  have  been  made  to  this 
impact assessment. 

(1) 

(2) 

In  the  introduction,  an  extra  section  has  been  added  to  show  the  contribution  of  the 
ongoing EU actions to create best practices in the field of rare diseases. 

In section 4.2 of the problem definition, we have outlined to current baseline activities 
taking place in the Member States, providing more clarity on existing polices. 

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(3) 

The policy options section has been reorganised. 

3. 

3.1. 

INTRODUCTION 

Introduction to Rare Diseases 

Rare  diseases  are  life-threatening  or  chronically  debilitating  diseases  with  a  low  prevalence 
and  a  high  level  of  complexity.  Most  of  them  are  genetic  diseases,  the  others  being  rare 
cancers,  autoimmune  diseases,  congenital  malformations,  toxic  and  infectious  diseases, 
among other categories (see Annex 0). They call for a global approach based on specific and 
combined  efforts  to  prevent  significant  morbidity  or  avoidable  premature  mortality,  and  to 
improve quality of life or socio-economic potential of affected persons. 

A Community action programme on rare diseases, including genetic diseases, was adopted for 
the period 1 January, 1999, to 31 December, 2003.2 This programme defined the prevalence 
for a rare disease  as affecting no more than 5 per 10 000 persons in the European Union. 
Additionally, Regulation (EC) No. 141/2000 of the European Parliament and of the Council 
of 16 December, 1999, on orphan medicinal products establishes the definition of an "orphan 
medicinal product" [article 2(b)] as well as criteria for designation of a medicinal product as 
an  orphan  medicinal  product  [article  3].  According  to  the  relevant  provisions  of  article  3,  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. Whilst this prevalence rate of 5 per 10 000 seems low, it translates into approximately 
246 000 persons per disease in the EU 27 Member States (MS). Based on present scientific 
knowledge, there are between 5 000 and 8 000 distinct rare diseases that affect up to 6% of 
the total EU population at one point in life. In other words, this equates to between 29 and 36 
million people in the European Union 27 MS that are affected, or will be affected, by a rare 
disease. 
According  to  available  sources  in  medical  literature3,  less  than  100  rare  diseases  have 
prevalence near the threshold of 5 per 10,000, such as Gelineau disease, triple X syndrome, 
scleroderma or neural tube defects. Most rare diseases are very rare, affecting one in 100,000 
people  or  less,  such  as  Gaucher  disease,  Ewing  sarcoma,  Duchenne  muscular  dystrophy,  or 
Von Hippel-Lindau disease. Thousands of rare diseases affect only a few patients in Europe 
such as Pompe disease, alternating hemiplegia, or Ondine syndrome. Patients with very rare 
diseases and their families are particularly isolated and vulnerable. 

There is also a great diversity in the age at which the first symptoms occur; half of the rare 
diseases  can  appear  at  birth  or  during  childhood  (such  as  Williams’  syndrome,  Prader-Willi 
syndrome, and retinoblastoma). The other half of rare diseases can appear in adulthood (such 
as Huntington’s disease, Creutzfeld-Jacob disease, amyotrophic lateral sclerosis). 

Although  most  rare  diseases  are  genetic  diseases,  they  can  also  result  from  environmental 
exposures during pregnancy or later in life, often in combination with genetic susceptibility. 
Some are rare forms or rare complications of other common diseases. 

Relatively common conditions can hide underlying rare diseases; examples include autism 
(which  is  a  major  symptom  in  Rett  syndrome,  fragile  X,  Angelman  syndrome,  adult 

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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). 
Prevalence of rare diseases: A bibliographic survey July 2007 - Orphanet 

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phenylketonuria,  Sanfilippo  disease,  et  al.)  or  epilepsy  (in  tuberous  sclerosis,  Shokeir 
syndrome,  Dravet  syndrome,  et  al.).  Many  conditions  classified  in  the  past  as  mental 
deficiency, cerebral palsy, autism, or psychoses are manifestations of rare diseases still to be 
characterised.  Most  congenital  malformations  and  many  types  of  cancers,  including  all 
cancers affecting children, are rare diseases.  

Research  on  rare  diseases  has  been  fundamental  in  the  identification  of  most  human  genes 
identified  so  far  and  a  quarter  of  the  innovative  medicinal  products  that  received  market 
approval in the EU (orphan drugs). Research on rare diseases has proved to be very useful to 
understand  better  the  mechanism  of  common  conditions  like  obesity  and  diabetes,  as  they 
represent a model of dysfunction of a biological pathway. However, research on rare diseases 
is not only scarce but also scattered throughout the EU. Under normal market conditions, the 
pharmaceutical industry is reluctant to invest in medicinal products and medical devices for 
rare  conditions  because  of  the  very  limited  market  for  each  disease.  This  explains  why  rare 
diseases are also called “orphan diseases” – they are “orphan” of a research focus and market 
interest, as well as of public health policies. 

At the same time, there are growing concerns that health systems are now willing to pay much 
more for orphan diseases (in terms of costs per Quality Adjusted Life Years or cost per life 
year  gained)  than  for  other  diseases  which  have—if  dealt  with—bigger  potential  for  health 
gain on global populations. The price for research and drugs makes it impossible for treatment 
of rare diseases to meet the conventional criteria for cost-effectiveness.  

The  Commission  has  already  been  active  in  the  field  of  rare  diseases;  however,  as  will  be 
explained  further  in  defining  the  problems  posed  by  rare  diseases,  there  is  still  a  lot  more 
work  that  can  and  needs  to  be  done  to  improve  the  situation  for  the  citizens  of  Europe. 
Moreover,  any  action  needs  to  involve  cooperation  and  coordination  between  the  Member 
States  to  be  effective,  and  the  current  EU  legislative  framework  is  poorly  adapted  to  rare 
diseases (see 4.3.3). Below is a brief list of previous and ongoing activities in the field of rare 
diseases; for a detailed list with explanations, please refer to Annex 10.2. 

•  Community Action Programme on Rare Diseases adopted for the period 1999-2003. 

•  Rare diseases were a priority in the EU Public Health Programme 2003-2007. 

•  Rare diseases continue to be a priority in the new Health Programme 2008-2013. 

•  Decision 1350/2007/EC of the Parliament and Council promotes action on rare diseases. 

•  The White Paper “Together for Health: A Strategic Approach for the EU 2008-2013” also 

identifies rare diseases as a priority for action. 

•  European  Community  Framework  Programmes  for  Research  and  Technological 
Development has contributed to advancing knowledge on rare diseases for two decades. 

•  FP6  supported  around  60  rare  disease-relevant  projects,  including  coordination  projects 

such as the OrphanPlatForm (part of the Orphanet platform) and ERA-Net projects4. 

•  FP7 recognises rare diseases a priority for research activities. 

4 

ERA-Nets are projects aiming to step up the cooperation and coordination of research activities carried 
out at national or regional level in the Member States and Associated States through the networking of 
research  activities  conducted  at  national  or  regional  level,  and  the  mutual  opening  of  national  and 
regional research programmes.  

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•  The  Orphan  Medicinal  Product  Regulation  was  adopted  to  set  up  the  criteria  for  orphan 
designation in the EU and describes the incentives (Regulation (EC) No 141/2000 of the 
European  Parliament  and  of  the  Council  of  16  December,  1999,  on  orphan  medicinal 
products) 

•  A Committee for Orphan Medicinal Products was established in 2000 within EMEA. 

•  DG SANCO has established the High Level Group on Health Services and Medical Care. 
One of its Working Groups deals with reference networks of centres of expertise for rare 
diseases. 

•  The Health Programme will also continue to integrate the support of patients’ organisations 

as a priority for action. 

3.2. 

The contribution of the ongoing EU actions to create best practices 

The Health Programme and the previous programmes have since 1999 supported 39 projects 
in the area of rare diseases with a funding of around €14 million. Some of these projects are 
international references used extensively by experts and patients around the World, and have 
created the necessary sharing of expertise that permits a solid basis for more in depth sharing 
of good practices and political values in this area. Such projects, amongst others, are: 

•  the ORPHANET database, the most important database for rare diseases and orphan drugs 

for the general public in Europe; 

•  the  successive  projects  implemented  by  EURORDIS  for  building  a  public  policy  on  rare 
diseases,  improving  quality  information  on  rare  diseases  and  orphan  drugs,  based  on  a 
survey, workshops and guidance documents; 

•  the  EUROCAT  network  (Surveillance  of  congenital  anomalies  in  Europe)  that  provides 
essential epidemiologic information on congenital anomalies and acts as a resource centre 
for people and professionals; 

•  the ENERCA (European Network for Rare Congenital Anaemias) 

The contribution of the existing EU Task Force on Rare Diseases, created by DG SANCO in 
2003, in defining of the framework for the creation of European Reference Networks and the 
ongoing  revision  of  the  International  Classification  of  Diseases  are  examples  of  good 
practices of cooperation between Member States, with the Commission having a direct impact 
in the improvement of the situation of the patients. 

A substantial contribution to advancing knowledge on rare diseases has also been provided for 
two  decades  through  collaborative  and  coordinated  research  projects  supported  by  the 
successive  European  Community  Framework  Programmes 
for  Research  and 
Technological  Development5.  The  support  provided 
to  some  60  multidisciplinary 
collaborative  projects  on  rare  diseases  has  created  a  solid  basis  for  a  more  extensive 
cooperation. The support from the FP6 to the ERA-Net project dedicated to rare diseases (E-
Rare)6  for  the  development  of  joint  and  trans-national  activities  (survey  on  national 
programmes,  identification  of  gaps  and  overlaps  among  national  research  programs  and 
activities on rare diseases) is also an example of good practices.  

Under the responsibility of DG ENTR and the EMEA (the European Medicines Agency), the 
EC  implements  a  policy  on  Orphan  Drugs.  The  Orphan  Medicinal  Product  Regulation 

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6

See http://cordis.europa.eu/fp7/home_en.html 
See http://www.e-rare.eu/cgi-bin/index.php 

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(Regulation  (EC)  No  141/2000  of  the  European  Parliament  and  of  the  Council  of  16 
December,  1999,  on  orphan  medicinal  products7)  was  proposed  to  set  up  the  criteria  for 
orphan  designation  in  the  EU  and  describes  the  incentives.  In  2000,  a  Committee  for 
Orphan Medicinal Products (COMP)8 was established within EMEA to review applications 
from persons or companies seeking “orphan medicinal product designation” for products they 
intend  to  develop  for  the  diagnosis,  prevention,  or  treatment  of  rare  diseases.  In  the  period 
between April 2000 and August 2007, the EMEA has received more than 740 applications for 
orphan  designation.  As  of  July  2007,  more  than  40  different  new  orphan  medicinal 
products have received a marketing authorisation for the treatment of more than 40 different 
life-threatening  or  chronically  debilitating  rare  diseases.  In  addition,  more  than  500  further 
medicines  have  already  been  designated  by  the  Committee  on  Orphan  Medicinal  Products 
(COMP) as orphan medicinal products, but are still undergoing clinical tests.  

The  Commission  is  well  aware  that  a  lot  of  additional  effort  is  needed  in  this  area,  but  the 
good practices created by the COMP constitutes a solid basis for a future integrated European 
approach for rare diseases. 

4. 

4.1. 

PROBLEM DEFINITION 

Lack of Recognition and Visibility of Rare Diseases 

Although rare diseases heavily contribute to morbidity and mortality, they are mostly invisible 
in health care information systems due to the lack of appropriate coding and classification 
systems.  The  lack  of  formal  identification  in  health  systems  thus  imposes  medical  and 
financial barriers to receiving treatment for an unrecognised disease that consequently lacks 
allocated funds and resources, thus creating a cycle that maintains the current inefficiency and 
lack of recognition of rare diseases. 

Furthermore, misdiagnosis and non-diagnosis are the main hurdles to improving life-quality 
for  thousands  of  rare  disease  patients.  A  serious  issue  is  the  length  of  time  required  for 
diagnosis, which currently can be from nine months to 4-5 years, if not longer in some cases. 
This is particularly a problem with rare diseases; on average, a doctor will see approximately 
300  diseases  during  the  course  of  their  professional  life,  thus  it  is  impossible  for  any  one 
medical  practitioner  to  be  able  to  identify  all  of  the  6,000-7,000  rare  diseases.  There  is 
currently no central reference (e.g. inventory of symptoms, definitions, treatments, etc.) for a 
clinician to refer to, compounding the problem of poor diagnosis. This thus further enhances 
the  lack  of  sufficient  recognition  of  rare  diseases.  Moreover,  for  many  rare  diseases,  such 
information does not even exist, which emphasises the need for more research. 

4.2. 

Lack of Policies on Rare Diseases in the Member States 

The focus on rare diseases is a relatively new phenomenon in most EU Member States. Until 
recently, public health authorities and policy makers largely ignored these challenges due to 
the  splintering  of  policy  debates  across  many  different  rare  diseases  rather  than  the 
identification of common themes for all rare diseases. 

Rare diseases require a correlated, integrated approach to research, diagnosis, and treatment. 
Within the Member States, there is fragmentation of the limited resources available for rare 

7 

8

Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on 
orphan medicinal products 
See http://www.emea.europa.eu/htms/general/contacts/COMP/COMP.html 

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diseases, thus it is essential to have a specific plan to concentrate and make efficient use of 
these limited resources that would otherwise fall below the threshold for efficacy. 

Only a limited number of Member States have adopted or will soon adopt a National Plan or 
launch  relevant  initiatives  in  the  area  of  rare  diseases.  While  only  France  has  established  a 
comprehensive and integrated action plan (2005-2008)9, the rest of MS have national policies 
in a limited number of areas: 

(1) 

(2) 

(3) 

(4) 

focus only in centres of expertise (Italy, Denmark, United Kingdom); 

focus only on research (Spain, Germany, The Netherlands); 

priority only the orphan drugs dimension (Ireland); 

support  to  patient's  organisations  in  absence  of  a  national  public  health  action 
(Romania, Luxembourg). 

In  certain  cases  initiatives  in  order  to  establish  a  National  Plan  on  Rare  Diseases  are  in 
process (Bulgaria, Portugal). In the rest of MS no evident targeted policy seems to exist.  

This lack of specific health policies for rare diseases in the large majority of Member States 
and the scarcity of the expertise, translate into delayed diagnosis and difficult access to care. 
This  results  in  additional  physical,  psychological,  and  intellectual  impairments,  sometimes 
birth of affected siblings, inadequate or even harmful treatments, and loss of confidence in the 
health care system. However, some rare diseases are compatible with normal quality of life if 
diagnosed  on  time  and  properly  managed.  A  common  approach  on  what  a  health  policy  on 
rare  diseases  can  provide  will  improve,  if  done  on  a  European  scale  of  cooperation  and 
sharing of expert resources, the protection of patients and their families. 

4.3. 

Lack  of  Effective  Healthcare,  Research,  and  Regulation  for  Rare  Diseases  in 
Europe 

4.3.1. 

Inequitable Access to Expert Healthcare 

The  national  healthcare  services  for  diagnosis,  treatment,  and  rehabilitation  of  people  with 
rare diseases differ significantly with respect to their availability and quality. There is a lack 
of reference networks, and access to care, resources, and expertise may well only be available 
in another Member State. A few MS have successfully addressed some of these issues raised 
by the rarity of some diseases, but most have not, leading to an overall inefficiency in tackling 
the problem across the EU. 

Eurordis launched a patient survey of the EurordisCare Programme, which is part of the EU 
Rare  Disease  Patient  Solidarity  Project  (RAPSODY,  supported  through  the  Public  Health 
Programme), aimed at describing and comparing experiences and expectations of patients and 
their families concerning access to health services for 16 rare diseases in Europe. Some of the 
main results and findings are as follows (see Annex 10.2 for further details): 

•  In terms of specialised centres, respondents are asking for: centres that know their disease 
well; multidisciplinary approach; better communication between the various professionals; 
improved social services, especially those linked to the rarity of the disease; and the right 
balance between specialisation (a centre with critical mass and knowledge) and proximity 
from home (to avoid having to travel) . 

•  20%  of  patients  experienced  some  rejection  by  health  professionals  because  of  their 

disease (main reason: complexity of the disease, in 80% of cases). 

9

See http://www.orpha.net/actor/EuropaNews/2006/doc/French_National_Plan.pdf 

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•  70% of patients needed the services of a social worker, but in 30% of cases, the access to 
this  service  was  difficult;  the  less  frequent  the  needs,  the  less  satisfying  the  assistance 
provided; when social services were offered by associations, patients were more satisfied. 

•  Difficulties in access to care vary greatly per disease; 18% of respondents had difficulties, 
with  the  time  for  first  appointment  being  the  main  factor  of  difficulty.  12%  of  patients 
failed to access at least one of the eight essential health services surveyed (the main reason 
being the lack of referral). 

4.3.2.  Fragmented Research 

There  are  at  least  6 000  to  7 000  distinct  rare  diseases,  the  great  majority  of  them  being  of 
genetic  origin.  Although  individually  rare,  rare  diseases  in  total  affect  at  least  20  million 
persons  in  Europe.  They  represent  a  major  issue  in  healthcare  since  a  large  percentage  of 
these  diseases  lead  to  a  significant  decrease  of  life  expectancy,  and  most  of  them  cause 
chronic illness with a large impact on quality of life and the healthcare system. Diagnosis of a 
rare  disease  is  often  delayed,  and  for  the  majority  of  rare  diseases  no  appropriate  treatment 
exists. However, there is a very close link between research and the possibilities for diagnosis 
and  treatment  of  rare  diseases.  Therefore,  further  research  on  rare  diseases  is  needed  but  is 
hampered  by  inefficiency  and  fragmentation  of  the  limited  resources  available  at  several 
levels: 

(1) 

(2) 

(3) 

(4) 

Few scientists work on one specific disease; 

There  are  few  patients  scattered  over  a  large  geographic  area,  causing  difficulties  to 
gather cohorts required for studies; 

Existing databases and material collections are usually local, small, and not accessible 
nor standardised; 

Diseases  often  have  complex  clinical  phenotypes  and  require  interdisciplinary 
approaches to treatment and interdisciplinary cooperation for research. 

Due to the limited expertise and resources (material, human, financial) mobilised for research 
in  each  individual  European  country,  efforts  are  obviously  limited  in  objectives  and  power. 
Therefore, rare diseases are a prime example of a research area that could strongly profit from 
coordination  on  a  trans-national  scale.  The  European  research  area  should  be  enabled  to 
realize 
its  potential  by  reorganizing  and  combining  scientific  expertise,  research 
infrastructure, well-defined patient cohorts, and biological material. 

4.3.3. 

Insufficient Legislative Framework 

The  current  EU  legislative  framework  is  poorly  adapted  to  rare  diseases,  which  present  a 
special  case  due  to  their  specific  characteristics,  vast  number  and  diversity,  low  patient 
density, and limited resources. The relevant existing Community legislation, for example on 
clinical  trials  and  marketing  authorisation  of  medicinal  products,  is  proving  unsuitable  and 
insufficient  when  applied  to  rare  diseases.  Thus,  the  current  legal  framework  is  unable  to 
tackle adequately the problems that have been outlined in this chapter—lack of recognition, 
research,  specific  policies,  access  to  expert  healthcare,  and  insufficient  Europe-wide 
information exchange—that specifically relate to rare diseases. 

4.4. 

Subsidiarity 

There is probably no other area in public health in which 27 national approaches could be 
considered  as  inefficient  and  ineffective  as  with  rare  diseases.  The  reduced  number  of 
patients for these diseases and the need to mobilise resources means that the scale and nature 

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of  effective  action  requires  action  at  European  level  in  support  of  the  Member  States,  in 
accordance with Article 152 of the Treaty establishing the European Community. 

At  national  level,  Centres  of  Expertise  for  at  least  some  rare  diseases  exist  in  12  Member 
States. However, it is not feasible to have a centre for every disease in every Member State 
due to the high levels of (especially financial and human) resources that would be required; 
for example, for many diseases, there is simply not a large enough patient population in each 
country to sustain safe and efficient care in a specific centre for each Member State. The idea 
is that the expertise, rather than the patients, should travel - although patients should also be 
able to travel to the centres if they need to. 

However, many interventions that would have an impact in this field are in settings that either 
are  fully  outside  the  competence  of  the  Community  or  need  a  shared  management  with 
national authorities (reference networks) or with the WHO (classification and codification).  

The  subsidiarity  test  asks  whether  EU  action  is  necessary  (the  'necessity  test'),  or  whether 
action by Member States is sufficient to solve the problem. It asks whether action at EU-level 
adds  value  to  the  work  done  by  Member  States  (the  'added-value  test'),  and  it  asks  if  the 
measures chosen are proportionate to the objectives (the 'boundary test'). This section looks 
at the first two tests. 

4.4.1.  Necessity Test 

Member States have the prime responsibility for protecting and improving the health of their 
citizens. As part of that responsibility, it is for them to decide on the organisation and delivery 
of  health  services  and  medical  care  to  patients  suffering  from  a  rare  disease.  However,  the 
fundamental aims of the EU in terms of free movement of patients, equitable recognition of 
diseases,  and  equitable  access  to  safe  and  efficient  orphan  drugs  or  cooperative  research  on 
rare diseases, necessarily have an EU health dimension. 

As the problems defined above show, the area of rare diseases is an area where action needs 
effective cooperation and coordination between countries. There is a need to act in a cohesive 
manner,  as  there  is  no  effective  or  efficient  way  in  which  the  Member  States  can  ensure 
proper recognition, visibility, and management of rare diseases on their own. 

A key reason for taking action now on rare diseases is the current revision of the International 
Classification of Diseases (ICD). The ICD is the international reference for classification of 
diseases and conditions coordinated by the World Health Organisation (WHO). It is key step 
in raising awareness and recognition of rare diseases at an international-level (see section 5.1). 
The current tenth revision of the ICD (ICD-10) was endorsed by the forty-third World Health 
Assembly  in  May  1990,  but  emerging  diseases  and  scientific  developments,  advances  in 
service  delivery,  and  changes  in  health  information  systems  require  a  revision  of  ICD.  The 
new  ICD-11  also  aims  to  include  rare  diseases  and  to  do  this  effectively  from  a  European 
perspective there needs to be a central coordinating point. This initiative would give formal 
visibility  and  recognition  to  this  process,  which  also  provides  the  opportunity  to  follow 
through with solutions to many of the problems posed by rare diseases that have already been 
presented. 

In  the  field  of  rare  diseases,  there  are  no  links  between  established  actions  of  other 
international organisations. WHO has only recently launched some consultations on essential 
medicines,  which  can  be  compared  to  certain  problems  associated  with  the  orphan  drugs. 
However,  there  is  no  WHO  specific  action  in  the  field  of  rare  diseases.  For  some  diseases 
such as the congenital anomalies, the EU is contributing via projects (Eurocat) to some WHO 
actions (International Database on Craniofacial Anomalies (IDCFA)). In the case of OECD, 
rare diseases are not planned to be part of any action of this organisation. 

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4.4.2.  Added-Value Test 

There is also a wide range of health issues where the EU has a key role in undertaking actions, 
which  add  value  to  and  complement  the  work  done  by  Member  States  in  making  European 
Citizens  healthier.  In  recent  years,  the  EU,  in  partnership  with  Member  States,  has  made 
important progress in improving and protecting health.  

The  EU  can  add  value  through  a  wide  range  of  activities.  These  include  working  to  reach 
critical mass or obtain economies of scale—for example sharing information on rare diseases 
where  only  a  small  number  people  are  affected  in  each  Member  State—or  performing 
collaborative  multidisciplinary  research,  which  proves  the  most  efficient  way  to  better 
understand  the  diseases  and  develop  preventive,  diagnostics  and  therapeutic  methods. 
Sharing  best  practice  and  benchmarking  activities  in  many  areas  can  contribute  to  the 
efficient and effective use of scarce resources and therefore the European coordination of MS 
action can prove particularly important in terms of future financial sustainability. 

The  EU  therefore  clearly  adds  value  in  a  wide  range  of  areas  relating  to  health.  Given  the 
need  to  tackle  current  and  emerging  health  challenges  in  the  most  effective  manner  and  to 
advance  good  governance  in  health  at  the  EU  level,  there  is  also  an  important  added-value 
resulting  from  taking  an  integrated  approach  in  relation  to  rare  diseases.  Clear  added-value 
examples can be identified in the following five areas: 

•  Reducing Inequities in Health in the EU   

Added-value  of  a  new  EU  approach  on  rare  diseases  is  found  in  the  contribution  of  the 
Communication to an equitable access to all EU patients to safer and more efficient orphan 
drugs  and  to  the  compassionate  use.  In  an  EU  contribution  to  develop  specialised  and 
adapted  social  services  for  rare  diseases  patients  and,  especially,  to  the  development 
national/regional centres of expertise establishing EU reference networks  

•  Creating  a  Coherent  Framework  for  Identification  of  Rare  Diseases  and  Europe-wide 

information sharing. 

•  Added-value  of  a  new  EU  approach  on  rare  diseases  is  found  in  the  improvement  of 
information,  identification  and  knowledge  on  rare  diseases  to  set  a  strong  basis  for 
diagnosis and care of patients; rationalise current mechanisms; support strategic action on 
rare diseases at national level; strengthen cooperation between Member States at EU level 
and to improve a common approach to prevention, diagnosis and care of patients with Rare 
Diseases. 

•  Creating 

an 

Improved 

Framework 

on  Rare  Diseases 
Added-value  of  an  EU  approach  on  rare  diseases  is  found  to  accelerate  research  and 
the  field  of  Rare  Diseases  and  Orphan  Drugs  by  allowing 
developments 
multidisciplinary  collaborative  research,  by  strengthening  the  limited  and  scattered 
expertise on rare diseases at European level. 

for  Research 

in 

5. 

OBJECTIVES 

The overall objective for Community action on rare diseases is to support Member States in 
ensuring  effective  and  efficient  recognition,  prevention,  diagnosis,  treatment,  care,  and 
research  for  rare  diseases.  This  is  supported  by  the  Commission’s  strategic  goals  of 
prosperity, solidarity, and security. This is to be achieved through three specific objectives. 

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5.1. 

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.  The  international  reference  for 
classification  of  diseases  and  conditions  is  the  International  Classification  of  Diseases, 
coordinated by the World Health Organisation (WHO10). The ICD is defined by the WHO as 
being “the international standard for diagnostic classification for epidemiological and health 
management  purposes.”  This  includes  the  monitoring  of  the  incidence  and  prevalence  of 
diseases.  The  ICD  is  used  to  classify  diseases  and  other  health  problems  recorded  on  many 
types  of  health  and  vital  records  including  death  certificates  and  hospital  records.  These 
records  also  provide  the  basis  for  the  compilation  of  national  mortality  and  morbidity 
statistics. The EU should thus cooperate closely with the WHO in the process of revising the 
existing ICD (International Classification of Diseases) in order to ensure a better codification 
and classification of rare diseases. 

To  improve  diagnosis  and  care  in  the  field  of  rare  diseases,  appropriate  identification  also 
needs  to  be  accompanied  by  accurate  information,  provided,  and  disseminated  in  a  format 
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.  A  better  coding  and 
classification  system  will  also  help  patients  to  understand  the  rare  disease  in  order  to  talk 
about it to their peers, relatives, carers, and doctors.  

5.2. 

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 across the EU, in order to establish a 
shared basis for collaboration. The EU could therefore bring together and clearly define best 
practices that could be taken as a basis for rare diseases strategies within the Member States. 

5.3. 

Developing  European  cooperation,  coordination,  and  regulation  for  rare 
diseases 

Community  action  can  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  also  aim  to  coordinate  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, in particular to 
ensure: 

–  effective coordination of research and technological development;  

–  access  to  appropriate  expert  healthcare  to,  as  well  as  specialised  and  adapted  social 

services for rare disease patients; 

–  and  adaptation  of  the  framework  of  legislation  and  action  at  Community  level  to  the 
specific needs of rare disease, in areas such as compassionate use of medicines, regulatory 
framework  for  orphan  drugs,  incentives  for  development  of  new,  safe  and  efficient 
medicine or applications introducing added therapeutic value for rare diseases. 

10 

See http://www.who.int/classifications/icd/en/.  

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6. 

POLICY OPTIONS 

This  section  sets  out  the  different  options  that  could  be  taken  for  each  of  the  three  specific 
objectives above. In selecting the main options to consider, this impact assessment focuses on 
appropriate tools for the rare diseases sector and the challenges to be met. In particular, we do 
not explore self-regulation or harmonisation in any detail, as the problems and objectives to 
be  addressed  in  the  field  of  rare  diseases  are  not  appropriate  for  either  self-regulation  or 
Community harmonisation. 
As set out in the report on self-regulation practices in SANCO policy areas11, self-regulation 
refers  to  “the  possibility  for  economic  operators,  the  social  partners,  non-government 
organisations,  or  associations  to  adopt  amongst  themselves  and  for  themselves  common 
guidelines  at  European  level  (particularly  codes  of  practice  or  sectoral  agreements)". 
However, this is not a viable solution for resolution of the problems identified, which cannot 
be  effectively  addressed  by  independent  operators  but  which  precisely  require  a  collective 
approach also involving public authorities. Effective recognition and visibility of rare diseases 
depend on involvement of public authorities and has certain procedural requirements; national 
strategies  likewise  depend  on  political  engagement  of  public  authorities;  and  the  problems 
requiring  European  action  need  actions  to  be  undertaken  by  the  Institutions.  The  options 
chosen therefore focus on options including engagement of those stakeholders in appropriate 
ways, in particular through “soft law” and technical cooperation structures. 

6.1. 

Baseline Option 

Continuing with project-based work without a European reference point within current legal 
framework 

Under  this  option,  the  Commission  would  continue  to  support  individual  projects  aiming  to 
improve the recognition and visibility of rare diseases, without providing formal guidance or 
recommendation to Member States regarding how to ensure efficient and effective strategies. 
This  option  would  build  on  the  previous  programmes  and  existing  actions,  but  without 
combining these with the political authority and visibility of a formal Commission initiative. 
The Commission would continue to support individual actions in different programmes, and 
existing  legal  provisions  such  as  the  legislative  framework  for  orphan  drugs  would  remain. 
However, these would not be brought together into a single integrated strategy. 

6.2. 

Commission Communication and Proposal for a Council Recommendation 

Under this option, the Commission would provide a formal statement of the definition of rare 
diseases within the EU, and set out its intentions for recognition and visibility of rare diseases 
at  European  and  global  level  and  set  out  an  overall  strategy  for  European  work  on  rare 
diseases, bringing together the different strands of action into an integrated approach. Specific 
actions would include: 

–  Confirming the EU definition of rare disease based on a prevalence of no more than 5 per 

10 000; 

–  Contributing to the ongoing process of revision of the ICD (International Classification of 
Diseases) in order to ensure appropriate codification and classification of rare diseases in 
the future ICD-11, to constitute an agreed international reference point, which can be used 
by all Member States if they wish. 

11 

see http://ec.europa.eu/dgs/health_consumer/self_regulation/index_en.htm 

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–  Providing  and  disseminating  scientific  information  on  rare  diseases  for  patients  and 

clinicians, through the health programme and building on the EU health portal. 

–  Establishing a committee of experts to provide advice on rare diseases to the different areas 

of Community action, such as research priorities and medicines licensing; 

–  Facilitating  networking  between  patients  and  professionals  across  Europe  (eg:  through 
financing  projects  under  the  existing  Health  Programme)  in  order  to  share  and  develop 
knowledge and information regarding rare diseases across the EU as a whole; 

–  Building on the procedure for designation and evaluation of European reference networks 
covered  by  the  forthcoming  proposals  on  patient  rights  in  cross-border  healthcare,  to 
establish  a  list  of  existing  national  centres  of  expertise  for  rare  diseases  identified  in  the 
MS,  and  to  explore  the  potential  for  Community  financial  support  to  ensure  appropriate 
healthcare infrastructure across the EU; 

–  Working  to  develop  European  guidelines  for  compassionate  use  of  medicines  and 
associated  requirements,  in  liaison  with  the  European  Medicines  Agency  (EMEA)  in 
particular; 

–  Reviewing  the  existing  legislative  framework,  including  the  regulation  on  orphan  drugs, 
with a view to considering whether any additional proposals are necessary in order to meet 
the needs of people with rare diseases12. 

The Commission would also propose a Recommendation of the Council, recommending that 
Member States establish coherent and comprehensive strategies for rare diseases, and setting 
out  the  overall  elements  that  such  strategies  should  cover,  based  on  Article  152  TEC,  and 
building on the results of Community action so far in this field. The recommendation would 
not  set  out  detail  on  how  these  areas  should  be  addressed  by  Member  States,  which  would 
then  be  adapted  by  Member  States  in  the  ways  best  suited  to  their  health  system.  Member 
States would be recommended to: 

–  Establish formal strategies for the identification and recognition of rare diseases;  

–  Ensure  access  to  information  for  patients  and  professionals  about  their  diagnosis  and 

treatment with plans and mechanisms for referral where appropriate; 

–  Establish priorities for research and development for rare diseases and their treatments;  

–  Support patients’ groups with the involvement of health professionals. 

6.3. 

Re-establish Formal Rare Diseases Programme 

Under this option, the Commission would propose establishing a specific programme with a 
single  detailed  strategy  for  rare  diseases  healthcare  at  Community  level.  The  programme 
would  be  established  under  Article  152  of  the  Treaty,  in  order  to  take  forward  specific 
projects on rare diseases in a similar way to the previous specific programme on rare diseases. 
The  aim  of  the  previous  programme13  was  to  contribute,  in  coordination  with  other 
Community  measures,  towards  ensuring  a  high  level  of  health  protection  in  relation  to  rare 
diseases.  This  would  be  achieved  by  improving  knowledge,  for  example  by  promoting  the 
setting-up of a coherent and complementary European information network on rare diseases, 

12 
13 

Any such proposals would of course be accompanied by their own impact assessment. 
See  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), OJ L 155/1 of 26.6.1999. 

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and  facilitating  access  to  information  about  these  diseases,  in  particular  for  health 
professionals,  researchers  and  those  affected  directly  or  indirectly  by  these  diseases,  by 
encouraging and strengthening trans-national cooperation between voluntary and professional 
support  groups  for  those  concerned,  and  by  ensuring  optimum  handling  of  clusters  and  by 
promoting the surveillance of rare diseases. 

However, this Programme was conceived as a financial instrument in order to finance actions 
in the fields mentioned above and was never an instrument to define a Commission policy or 
a  framework  of  cooperation  with  Member  States.  The  utility  of  the  former  Programme  was 
limited to the support and impulse of the first European actions in the field of rare diseases 
integrating the public health dimension. The former FP5 and FP6 Programmes have over the 
years  played  an  exclusive  role  in  this  area.  A  re-establishment  of  the  former  Rare  Diseases 
Programme  would  not  correspond  to  the  current  expectations  of  a  European  action  in  the 
field. 

Under this option, the Commission could also adopt measures under the Statistical Regulation 
of the Council and Parliament on statistics on public health and health and safety in order to 
put  in  place  a  binding  legal  requirement  for  the  collection  of  data  on  rare  diseases  by  the 
Member States. 

7. 

ANALYSIS OF IMPACTS 

There  is  probably  no  other  area  in  public  health  in  which  27  national  approaches  could  be 
considered so inefficient and ineffective as is the case with rare diseases. The low number of 
patients with these diseases as well as relatively small number of experts (due to the number 
and  diversity  of  recognised  rare  diseases)  and  the  need  to  mobilise  resources  could  be  only 
efficient  if  done  in  a  coordinated  European  way.  The  results  of  the  actions  financed  so  far 
have  provided  sufficient  availability  of  data  to  demonstrate  the  link  between  best-practice 
actions and resulting treatment, information, and sharing of knowledge influencing the well-
being of rare diseases patients. 

Social Impacts 

In general terms, improving the situation for rare diseases brings social benefits of equity of 
access to healthcare for the citizens affected by rare diseases, regardless of the rarity of their 
condition or where they live within the Union. The innovative tools and methods developed 
during research on rare diseases can often subsequently be applied to more common diseases, 
thereby  benefiting  a  wider  population  than  only  the  rare  diseases  patients.  Currently,  many 
patients  have  difficulty  identifying  their  condition  or  in  finding  a  doctor  with  sufficient 
relevant expertise to do so; this is often exacerbated by expertise being unevenly distributed 
across  the  Union,  and  often  only  available  in  a  limited  number  of  languages  (typically 
English). 

Environmental Impact 

Due  to  the  nature  of  the  initiative,  the  environmental  impact  is  negligible,  and  will  not  be 
considered further in the following analyses. 

Economic Impacts 

Successful  intervention  on  rare  diseases  could  also  have  economic  impact  in  improving 
efficiency and effectiveness in the use of resources for rare diseases. Also, innovation fostered 
by researching rare diseases can benefit the society at large. Rare diseases are often complex 
and  difficult  to  treat,  given  the  high  cost  of  the  rare  diseases  treatment,  and  have  clear 
economies  of  scale  from  efficiently  bringing  together  expertise  and  treatment  facilities. 

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Although  the  number  of  people  with  individual  diseases  is  low,  as  outlined  above  the  total 
number of people affected by rare diseases is substantial. Improving the efficiency of action to 
address them will therefore bring significant benefits both for the individual patients and for 
the efficient use of resources for health systems overall.  

It is therefore clear that the major impacts (both positive and negative) from any initiative on 
rare diseases will be in the social and economic areas, and these are thus analysed below. The 
analysis is primarily qualitative in nature; this is proportionate, given that the options under 
consideration and ultimately recommended are for technical cooperation, non-binding "soft" 
law and European-level cooperation, not harmonisation or binding legal measures. Given the 
non-binding nature of the initiative, the likely impacts are not expected to be burdensome to 
any group or sector, and the proposal itself is neither controversial nor contested. 

7.1. 

Baseline Option 

Continuing with project-based work without a European reference point within current legal 
framework 

Social Impact 

Existing  project  work  can  continue  to  better  identify  and  categorise  different  rare  diseases. 
However, without some form of formal political recognition and visibility, this work will lack 
effectiveness,  as  the  identification  and  categorisation  will  not  be  accepted  and  taken  up 
throughout the Union, leading to inequities across the Union regarding access. Currently, only 
one  Member  State  has  a  formal  national  strategy  for  rare  diseases  (France),  although  some 
others have other relevant actions. This leads to great inequity within the Union, with the vast 
majority  of  EU  citizens  receiving  suboptimal  healthcare  provision.  These  impacts  on 
mortality  and  morbidity  rates  would  be  subsequently  higher  if  relevant  healthcare  services 
specific  for  rare  diseases  were  provided.  Moreover,  without  this  consensus  throughout  the 
Union,  any  proposed  revisions  to  the  international  classification  of  disease  at  global  level 
through  the  WHO  will  be  less  likely  to  be  accepted  and  adopted,  again  undermining  their 
effectiveness. This approach would mean accepting a level of cooperation with international 
institutions that is not optimal as well as an approach to global health information serving EU 
policies that is heterogeneous, fragmented, and sometimes contradictory. 

Given the complexity and time-consuming nature of establishing such strategies from scratch, 
it seems unlikely that without providing a clear reference point bringing together existing best 
practices from across the Union, Member States would be able to establish such strategies – 
and doing so would certainly be less efficient that being able to draw on an agreed European 
reference point. As Member States work to develop their own actions on rare diseases, it is 
important to have clarity about what is being done at Community level and how the different 
elements fit together. Simply continuing individual actions risks being inefficient with regard 
to action within Member States, who will not always be aware of what is being done in the 
different  areas  at  Community  level.  This  could  lead  to  even  greater  inequities  developing 
between the Member States. 

Economic Impact 

As with social impacts, the lack of formal recognition and visibility for a common system of 
identification  of  rare  diseases  will  have  an  'opportunity  cost'  from  the  inefficiencies  of 
fragmented  actions  and  duplication  of  effort.  As  always  with  rare  diseases,  the  resources 
available remain limited; simply continuing individual actions risks not using those resources 
efficiently. This means a consequent opportunity cost through inefficiency of public budgets 
for healthcare in the area of rare diseases. The lack of a shared identification and recognition 
of rare diseases will also undermine innovation; developing new safe and efficient therapies 

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which bring a new added therapeutic value depends on a sufficiently large patient population 
to participate in research and provide an economic incentive for development, which will be 
hindered  by  the  lack  of  a  common  system  of  recognition  of  diseases  that  would  enable 
pooling of such resources, groups and efforts. 

The establishment of the French multiannual (2005-2008) strategy for rare diseases will cost 
€86.66m  with  a  further  €20m  to  be  spent  on  research14.  The  budgetary  consequences  for 
public authorities in establishing these strategies without guidance and a European approach 
makes this option nonviable for many Member States. In the current situation, resources are 
highly  fragmented  and  are  inefficient  at  best,  many  falling  below  the  threshold  required  for 
efficacy. 

Existing actions have laid a good basis for Community action on rare diseases. Actions have 
grown up and spread across a wide variety of policy areas, legal instruments and programmes, 
potentially  now  including  the  structural  funds,  research  funds,  health  programme,  e-health 
initiatives, licensing frameworks for medicines and medical devices, and the EU health portal. 
However, precisely because of the results now available and variety of initiatives being taken, 
there is a risk of inefficiency from a lack of a single overall strategy. 

7.2. 

Commission Communication and Proposal for a Council Recommendation 

Social Impact 

By setting out its processes for improving recognition and visibility of rare diseases through a 
Communication,  the  Commission  would  help  to  ensure  that  this  process  would  have  the 
involvement of all relevant stakeholders, and that the results would be coherent, accepted, and 
used  throughout  the  Union.  Databases  and  registries  at  European  level  will  be  a  powerful 
instrument  of  knowledge  of  diseases  providing  tools  for  future  actions.  National  registries 
could  be  significant  contributors  to  these  European  registries  but  would  never  be  able  to 
provide  the  necessary  amount  of  information  on  a  certain  disease  due  to  the  scarcity  of 
patients by MS. Giving central information resources formal visibility through a Commission 
Communication  would  also  help  to  ensure  their  recognition  by  patients,  professionals,  and 
health  authorities,  ensuring  that  they  will  effectively  centralise  knowledge  and  avoid 
duplication within the Union. 

Increasing  cooperation  between  the  Member  States  in  the  field  of  rare  diseases  would  also 
lead to improve efficiency of national resources currently dedicated to RD. It would serve to 
narrow the inequity gap of healthcare service provision, particularly with respect to access to 
expert services. An overall strategy would not only improve the equity of access to services 
and  treatment,  but  also  the  quality  of  the  treatment  provided.  Moreover,  coordinated 
cooperation and regulation would enhance the cross-border provision of healthcare services. 
There would thus be a substantial effect on the health status of the population as a whole and 
a decrease in rare diseases-related mortality and morbidity. 

A  Council  Recommendation  would  provide  a  formal  legal  and  political  commitment  to  the 
Member  States  whilst  maintaining  flexibility  in  the  implementation.  This  approach  is 
specifically  provided  for  in  Article  152  as  an  appropriate  tool  in  the  health  area,  balancing 
effective guidance and shared commitment with respect for subsidiarity. This would lead to 

14 

According to the “Plan national maladies rares 2005-2008” the total cost of €86.66m can be broken down as 
follows:  epidemiology  €2m,  information  €1.2m,  professional  training  €400 000,  helpline  €400 000, 
screening  €20m,  access  to  and  quality  of  services  €40m,  research  €22.5m  (with  an  additional  €20m 
from ministry of research), and developing partnerships €160 000. 

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greater  equity  and  quality  in  the  provision  and  access  of  services,  and  thus  have  a  positive 
effect on the health of the population within the Member States. 

A  Council  Recommendation  has  been  successfully  used  already;  the  2003  Council 
Recommendation  on  population-based  cancer  screening  is  an  example  of  how  such  a 
recommendation has been successful in codifying and bringing together scientific consensus 
and best practice, and generating a shared political commitment to implementation. 

Economic Impact 

The technical work for this option can be taken forward with support from the existing health 
programme, and by centralising efforts, which will be more efficient and less burdensome for 
national health systems and public authorities. The most relevant project in this area to use as 
an  example  is  Orphanet  (now  the  Rare  Diseases  and  Orphan  Drugs  Portal);  established  in 
1997,  Orphanet  is  a  broad  partnership  of  public  and  private  institutions,  which  has  cost 
€6 036 376  since  2000  (with  the  Commission  being  only  one  of  the  six  contributors  to  the 
project). The Health Programme and the FP7 will continue to finance any action at EU level 
creating  or  consolidating  databases  and  registries.  The  economic  impact  of  a  formal 
Commission  Initiative  would  thus  be  positive  overall,  even  taking  into  account  the  central 
Community investment through the existing health programme. Moreover, the dissemination 
of  the  subsequent  information  would  be  greatly  facilitated  with  a  minimal  incremental 
increase in costs, as it would take advantage of already established web portals and networks, 
in particular the EU Health Portal. 

Coordinated support is especially important in the field of rare diseases where resources are 
so limited and scattered throughout the EU. A coherent approach would significantly increase 
the  efficiency  and  efficacy  of  any  proposed  actions,  whereas  the  recognition  of  a  formal 
procedure would support the implementation in the Member States thus pooling the resources 
available  so  that  they  reach  the  threshold  for  efficacy.  Thus,  the  budgetary  burden  already 
faced by public authorities of the Member States in providing care for rare diseases efficiently 
and effectively would be substantially reduced through coordinated use of available resources 
at the EU-level. 

A  coordinated  approach  would  also  stimulate  research  and  development,  which  would  thus 
lead  to  a  greater  global  knowledge  and  better  identification  of  rare  diseases.  Enhanced 
regulation  would  subsequently  facilitate  the  introduction  and  dissemination  of  new 
technologies  such  as  orphan  medical  products,  and  allow  more  efficient  use  of  resources 
currently available within the EU, but perhaps not available in all Member States. This would 
further  reduce  the  budgetary  burden  on  the  public  authorities  within  individual  Member 
States, through permitting cooperation in the different areas of research and expertise. 

7.3. 

Re-establish Formal Rare Diseases Programme 

Social Impact 

The solid evidence base would improve access to health systems and increase awareness, and 
thus visibility, of rare diseases. It would also allow improved monitoring of life expectancy, 
mortality,  and  morbidity  in  the  Member  States,  and  thus  have  an  impact  on  health  and 
provision of services. The resulting impact on services would most likely improve the quality 
and access specifically for rare diseases. 

Under  this  option,  the  Commission  would  through  a  Communication  and  accompanying 
guidelines  set  out  a  detailed  strategy  on  organisation  of  healthcare  for  diagnosis,  treatment, 
and  care  of  rare  diseases  within  health  systems.  This  would  undoubtedly  provide  more 
detailed guidance at Community level than a Council recommendation, which would set out 

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general principles that are then adapted to the  circumstances  of  each  health  system.  On  this 
basis,  more  detailed  guidance  might  be  more  effective  in  detailing  best  practice  in  the 
different  areas  of  action  on  rare  diseases.  This  would  ensure  an  increased  quality  in  the 
provision  of  rare  disease-specific  healthcare  across  the  Union,  thus  reducing  the  current 
inequities.  The  increased  service  provision  would  thus  positively  affect  health  of  the 
population. 

The re-establishment of  a formal  rare disease programme  would  offer  very little increase in 
the  efficiency  of  actions  compared  to  a  Commission  strategy.  Thus,  relaunching  a  formal 
programme would not offer significant advantages over the other options outlined. 

Economic Impact 

Following definition of rare diseases with a requirement for compulsory data collection under 
the Eurostat Regulation would certainly have advantages in terms of ensuring comprehensive 
data  regarding  rare  diseases.  However,  the  administrative  burden  on  public  authorities  of 
requiring  such  data  for  the  5 000-8 000  rare  diseases  from  throughout  the  Union  would  be 
substantial.  The  additional  cost  of  integrating  data  collection  on  rare  diseases  into  the 
European statistical system would be substantial. Using the cost of establishing surveillance 
networks  as  an  example;  Eurocat  (Surveillance  of  congenital  anomalies  in  Europe,  funded 
through  the  Public  Health  Programme)  cost  €1 471 299  for  a  42-month  period,  and  Enerca 
(European  Network  for  Rare  Congenital  Anaemias)  cost  €1 129 667  for  a  36-month  period. 
This is a total of over €2.6m for only two surveillance projects. This cost of establishing such 
networks  for  all  rare  diseases  does  not  appear  to  be  proportionate  given  that  reasonably 
accurate data is already frequently available through less administratively burdensome routes 
(e.g. through patients’ organisations and expertise networks). 

This  option  would  also  raise  questions  about  subsidiarity,  given  the  differences  in 
organisation and delivery of health services and medical care throughout the Union. The more 
detail  that  is  set  out  at  European  level,  the  greater  the  consequent  required  adaptations  and 
restructuring of the different national health systems, and thus the greater the implementation 
costs and administrative burden for both the public administration at the Member States level 
and EU level. 

Although areas such as research and technological development would benefit, to re-establish 
a formal EU programme on rare diseases would require a substantial  level  of  funding to be 
viable. It would also lose the advantages of having rare diseases integrated into a wide range 
of  different  policy  areas  and  actions,  potentially  creating  much  broader  synergies  and 
releasing greater resources than any specific programme on rare diseases could generate. This 
therefore does not appear to be the most efficient approach. 

8. 

8.1. 

COMPARING THE OPTIONS 

Improving Recognition and Visibility of Rare Diseases 

Baseline Option 

Commission 
Communication 

Advantages 

Better 
categorisation 
diseases 

identification  & 
rare 
of 

rare 

Improved  recognition 
diseases; 
of 
of 
engagement 
relevant  stakeholders; 

Compulsory 
Requirement 
Data Collection 

for 

Improved  evidence 
base 
rare 
on 
improved 
diseases; 
monitoring of public 
improved 
health; 

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Disadvantages  Reduced 

likelihood 

of 
classifications 
being 
adopted;  duplication  and 
of  work; 
inefficiency 
in 
continued 
access  to  care  across  the 
Union. 

inequities 

adoption of the results.  and  more  equitable 
of 

provision 
services. 

on 
Depends 
collaboration of a wide 
range  of  stakeholders 
to succeed. 

High  administrative 
burden;  high  cost  of 
integration 
into 
statistical 
system; 
disproportionate 
level of action. 

8.2. 

Supporting Policies on Rare Diseases in the Member States 

Baseline Option 

Advantages 

flexibility 

Maximum 
for 
Member  States  to  organise 
health 
they 
systems  as 
wish. 

Disadvantages  Inequities 

in  access  and 
quality  of  healthcare  for 
rare diseases persist; lack of 
clear 
point; 
reference 
inefficient  establishment  of 
strategies; 
national 
resources 
remain 
fragmented. 

Council 
Recommendation 

EU-Level 
Healthcare Strategy 
for RD 

Formal 
legal  & 
political  commitment; 
flexibility; 
maintain 
increased 
efficiency 
&  efficacy  of  actions; 
pooling of resources. 

Detailed  guidance  at 
more 
EU-level; 
effective  in  detailing 
best 
practice; 
increased  healthcare 
provision. 

No  legal  requirement 
for  Member  States  to 
comply. 

Significant 
restructuring 
of 
health 
national 
systems;  issues  with 
subsidiarity. 

8.3. 

Developing  European  Cooperation,  Coordination,  and  Regulation  for  Rare 
Diseases 

Baseline Option 

Commission 
Communication 

Advantages 

any 

Avoids 
redirection 
Community actions.  

of 

need 

for 
existing 

equity 

Improve 
in 
access  to  and  quality 
healthcare 
of 
rare 
provision 
for 
enhance 
diseases; 
cross-border 
cooperation;  decrease 
in 
& 
mortality 
morbidity  from  rare 
reduce 
diseases; 

Re-establish  Rare 
Diseases 
Programme 

Provides 
political 
of 
visibility 
Community  funding 
for rare diseases. 

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inefficiencies; 
stimulate 
facilitated 
introduction 
technology. 

research; 

of 

Disadvantages  Continuing 

actions 
inefficient;  lead  to  greater 
inequities; resources remain 
limited and scattered. 

Depends 
on 
cooperation  across  a 
of 
wide 
programmes 
and 
actors  at  Community 
level. 

range 

is 

Substantial  level  of 
required 
funding 
not 
which 
available  under  the 
existing 
financial 
perspectives;  lack  of 
integration  in  other 
policy 
areas; 
inefficient approach. 

8.4. 

Summary 

On this basis, the preferred option is to bring forward proposals for a Community strategy for 
rare diseases set out in a Commission Communication, focused on: 

–  confirming the definition of rare diseases for Community work, and setting out next steps 
for technical work to ensure appropriate codification and classification of rare diseases and 
a  central  database  to  provide  and  disseminate  scientific  information  on  rare  diseases  for 
patients and clinicians, building on the EU health portal;  

–  key elements for rare diseases strategies for the Member States, with a shared commitment 
to be sought through an accompanying proposal for a Recommendation of the Council on 
establishment of coherent and comprehensive strategies for rare diseases based on Article 
152 TEC; 

–  together with a work plan of supporting actions at Community level as set out in option.  

9. 

MONITORING AND EVALUATION 

9.1. 

Data Collection 

A Data Set for Rare Diseases Indicators will be established based on the ongoing works of the 
technical  support  structures.  The  Data  Set  would  cover  the  following  areas,  with  example 
indicators shown (an indicative, non-comprehensive list only): 

9.1.1.  Demography, Epidemiology, and Health Status 

For example: 

•  Proportion of rare diseases identified in the ICD;  

•  Number of people affected in EU, by disease, geographical distribution; 

•  Average duration from first symptoms to diagnosis;  

•  Registered deaths due to rare diseases;  

•  Health  expectancy  indicators:  PYLL  (Potential  Years  of  Life  Lost),  DALY  (Disability-

Adjusted Life Years), HLY (Healthy Life Years)  

•  HTA tools to measure efficacy of the treatments.  

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9.1.2.  Determinants of Health and Socio-economic Factors  

For example: 

•  Biological and personal factors;  

•  Perceived and functional health (Quality of Life, Education, Employment). 

9.1.3.  Health Services 

For example: 

•  Health Care expenditure for rare diseases as a percentage of total health care expenditure 

(at national/regional level); 

•  Average length of stay in hospitals due to rare diseases; 

•  Number of laboratories certified for genetic testing; 

•  Number of national registries and databases; 

•  Number of patients’ associations. 

9.1.4.  Research and Technology Development 

For example: 

•  Number and list of diagnostic tests and biomarkers for rare diseases; 

•  The approval and availability in the market of new Orphan products by the EMEA;  

•  Number  and  list  of  databases  and  laboratory  networks  created  to  share  knowledge  and 

information on rare diseases; 

•  National and international funds available for rare diseases. 

•  Possibilities and outcome of increasing R&D in field of orphan drugs under public-private 

partnerships (national and EC level)  

9.1.5.  Equity, Regional Differences, and EU Initiatives 

For example: 

•  The National and Regional Rare Diseases Plans implemented and designed in the EU; 

•  The number of reference networks on rare diseases approved at EU-level. 

9.2. 

Comitology and Monitoring Mechanism 

As set out above, an EU Advisory Committee on Rare Disease (EUACRD) would be created 
in order to accomplish the tasks currently performed by the EU Rare Disease Task Force. The 
Committee  would  be  assisted  by  a  scientific  secretariat  set  up  to  contribute  to  the  strategic 
development of health action in the field of rare diseases. The existing EU Task Force on Rare 
Diseases is composed of Project leaders of the Health Programme and FP Projects; the official 
participation of the MS is currently very limited. The future EUACRD shall be composed of 
representatives  of  the  27  MS,  incorporating  experts  from  the  Health  Programme  and  FP 
Projects,  representatives  of  the  patient's  organisations,  representatives  from  industry,  and 
other interested bodies. 

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10. 

ANNEXES 

10.1.  List of Diseases by Decreasing Prevalence 

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EN 

27 

   EN 

 
EN 

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EN 

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EN 

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EN 

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Previous and Ongoing Activities 

10.2. 
Based  on  Article  152,  a  Community  action  programme  on  rare  diseases15,  including 
genetic diseases, was adopted for the period 1 January 1999, to 31 December 2003. The aim 
of  the  programme  was  to  contribute,  in  coordination  with  other  Community  measures,  to 
ensure a high level of health protection in relation to rare diseases. As a first EU effort in this 
area,  specific  attention  was  given  to  improving  knowledge  and  facilitating  access  to 
information about these diseases. Actions of the programme included developing a coherent 
European information network on rare diseases; contributing to training and refresher courses 
for  professionals  in  order  to  improve  early  detection,  recognition,  intervention,  and 
prevention;  promoting  and  encouraging  transnational  collaboration  and  networking;  and 
supporting  at  Community  level  the  monitoring  of  rare  diseases  in  the  Member  States.  Rare 
Diseases were one of the priorities in the EU Public Health Programme 2003-200716. 

15

16 

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) 
Decision  No  1786/2002/EC  of  the  European  Parliament  and  of  the  Council  of  23  September,  2002, 
adopting a programme of Community action in the field of public health (2003-2008) 

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Rare diseases will continue to be a priority for action in the new Health Programme (2008-
2013).  The  Decision  1350/2007/EC  of  the  European  Parliament  and  of  the  Council 
adopted the second programme of Community action in the field of health (2008-2013)17 
establishes in point 2.2.2. of the Annex: 'Promote action on the prevention of major diseases 
of particular significance in view of the overall burden of diseases in the Community, and on 
rare diseases, where Community action by tackling their determinants can provide significant 
added value to national efforts'. 

The White Paper COM(2007) 630 final “Together for Health: A Strategic Approach for 
the  EU  2008-2013”  of  23  October  2007  developing  the  EU  Health  Strategy  18  also 
identifies rare diseases as a priority for action. 

A substantial contribution to advancing knowledge on rare diseases has been provided for two 
decades through collaborative and coordinated research projects supported by the successive 
European  Community  Framework  Programmes  for  Research  and  Technological 
Development19.  The  necessity  of  multidisciplinary  approaches,  the  low  number  of  patients 
available for each study and the scattered specialists with complementary expertise makes it 
indispensable to pool resources at European level. The coordination and collaboration efforts 
put in place in the three preceding FPs were much amplified during  FP6, which  brought an 
incomparable  European  added-value  in  the  field,  through  the  support  provided  to  some  60 
tackled 
multidisciplinary  collaborative  projects.  These  mobilised 
fragmentation  in  the  field,  and  produced  new  knowledge  on  rare  diseases,  on  which  future 
researches can be built. 

researchers, 

top 

Amongst others, FP6  supported  coordination projects  such as the OrphanPlatForm project 
(part of the Orphanet platform) which references national and European research projects at 
a  near-to-the-market  stage  of  development,  offers  a  platform  for  collaboration  between 
academic and industrial partners, and allows patients to signal their interest in participating in 
current/future research. In this context, the FP6 supported also an important ERA-Net project 
dedicated to rare diseases (E-Rare)20 for the development of joint and trans-national activities 
(survey on national programmes, identification of gaps and overlaps among national research 
programs  and  activities  on  rare  diseases).  The  rare  diseases  activities  in  FP6  also  allowed 
involvement of representative patient organisations (by participation in projects, including co-
sponsoring, agenda setting, workshops, and conferences). 

In the current framework programme, FP7, rare diseases have been recognised a priority for 
research  activities.  Research  on  rare  diseases  is  expected  to  be  supported  mostly  through 
collaborative  and  coordination  research  projects  in  the  Health  Theme  of  the  "Cooperation" 
Specific  Programme,  designed  to  improve  the  health  of  European  citizens,  increase  the 
competitiveness, and boost the innovative capacity of European health-related industries and 
businesses, while addressing global health issues. In the Health Theme, emphasis will be put 
on translational research (translation of basic discoveries into clinical applications, including 
scientific  validation  of  experimental  results),  the  development,  and  validation  of  new 
therapies, methods for health promotion and prevention (including promotion of child health), 
healthy ageing, diagnostic tools and medical technologies, as well as sustainable and efficient 
healthcare systems. More specifically, the focus for rare disease research in FP7 is on Europe-

17 

18

19

20

Amended proposal for a Decision of the European Parliament and of the Council establishing a second 
Programme  of  Community  action  in  the  field  of  Health  and  consumer  protection  (2007-2013) 
COM(2006) 234 final 
See http://ec.europa.eu/health/ph_overview/strategy/health_strategy_en.htm 
See http://cordis.europa.eu/fp7/home_en.html 
See http://www.e-rare.eu/cgi-bin/index.php 

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wide  studies  of  natural  history,  pathophysiology,  and  the  development  of  preventive, 
diagnostic, and therapeutic interventions. 

Under the responsibility of DG ENTR and the EMEA (the European Medicines Agency), the 
EC  implements  a  policy  on  Orphan  Drugs.  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  products21)  was  proposed  to  set  up  the  criteria  for 
orphan designation in the EU and describes the incentives. The incentives in place are a 10-
year  market  exclusivity,  protocol  assistance,  and  access  to  the  Centralised  Procedure  for 
Marketing Authorisation. This aims to encourage the research, development, and marketing of 
medicines  to  treat,  prevent,  or  diagnose  rare  diseases.  The  EU  pharmaceutical  legislation 
completed  the  policy  in  2003  with  a  compulsory  EU  centralised  procedure  for  market 
authorisation for all orphan drugs. 
In  2000,  a  Committee  for  Orphan  Medicinal  Products  (COMP)22  was  established  within 
EMEA to review applications from persons or companies seeking “orphan medicinal product 
designation” for products they intend to develop for the diagnosis, prevention, or treatment of 
rare diseases. 

DG SANCO has established the High Level Group on Health Services and Medical Care 
(HLG) as a means of taking forward the recommendations made by the reflection process on 
patient mobility. One of the Working Groups of this High Level Group deals with reference 
networks  of  centres  of  expertise  for  rare  diseases.  In  2006,  the  Rare  Diseases  Task  Force 
submitted a report ‘Contribution to policy shaping: For a European collaboration on health 
services  and  medical  rare  in  the  field  of  rare  diseases’  23  to  the  HLG,  updating  the 
information about reference networks in Europe. The report details the use of the concept of 
reference networks for rare diseases in Europe as well as their respective functions. The Work 
Plans  2006  and  2007  for  the  implementation  of  the  EU  public  health  programme  have 
introduced the development of European Reference Networks for Rare Diseases as a priority 
in the area. 

In this sense the Consultation regarding Community action on health services SEC (2006) 
1195/4 from 26 September 2006 proposed under point 3.2.1. European networks of centres of 
reference:  'Some  types  of  health  services  require  a  particular  concentration  of  resources  or 
expertise, for example for rare diseases. Establishing European networking for such centres 
of reference would help to provide high-quality and cost-effective care, and would thus bring 
benefits  to  both  patients  and  healthcare  systems  as  well  as  helping  to  promote  the  highest 
possible quality of care'. 

The  Health  Programme  will  also  continue  to  integrate  the  support  to  the  patients’ 
organisations  as  a  priority  for  action,  such  as  the  European  Organisation  for  Rare  Diseases 
(Eurordis)24.  Eurordis  gathers  organisations  in  33  countries,  permitting  a  direct  dialogue 
between  the  European  Commission,  other  stakeholders,  and  the  patient  community  of  rare 
diseases. 

21 

22

23

24

Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on 
orphan medicinal products 
See http://www.emea.europa.eu/htms/general/contacts/COMP/COMP.html 
See http://ec.europa.eu/health/ph_threats/non_com/rare_8_en.htm 
See http://www.eurordis.org 

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