EN    EN EN 
 
EN    EN  COMMISSION OF THE E UROPEAN COMMUNITIES 
Brussels, 11.11.2008 
SEC(2008) 2712 
  
COMMISSION STAFF WORKING DOCUMENT 
 
Accompanying the  
COMMUNICATION FROM THE CO MMISSION TO THE EUROPEAN 
PARLIAMENT, THE COUNCIL, THE EUROPEAN ECONOMIC AND SOCIAL 
COMMITTEE AND THE COMMI TTEE 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} 
 
EN 2   EN TABLE OF CONTENTS 
1. Executive Summary ..................................................................................................... 4 
2. Procedural Issues and Consulta tion of Interested Parties ............................................ 4 
2.1. Organisation and Timing.............................................................................................. 4 2.2. 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. Introduction................................................................................................................ .. 7 
3.1. Introduction to Rare Diseases ...................................................................................... 7 3.2. The contribution of the ongoing EU ac tions to create best practices........................... 9 
4. Problem Definition..................................................................................................... 10 4.1. Lack of Recognition and Visibility of Rare Diseases ................................................ 10 4.2. Lack of Policies on Rare Dis eases in the Member States .......................................... 10 
4.3. Lack of Effective Healthcar e, 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. Objectives.................................................................................................................. . 14 
5.1. Improving Recognition and Visibility on Rare Diseases........................................... 15 5.2. Supporting Policies on Rare Diseas es in the Member States..................................... 15 
5.3. Developing European cooperation, coordina tion, and regulation for rare diseases... 15 
6. Policy Options............................................................................................................ 16  
6.1. Baseline Option.......................................................................................................... 1 6 
6.2. Commission Communication and Proposal  for a Council Recommendation............ 16 
6.3. Re-establish Formal Rare Diseases Programme ........................................................ 17 7. Analysis of impacts.................................................................................................... 18 
7.1. Baseline Option.......................................................................................................... 1 9 
7.2. Commission Communication and Proposal  for a Council Recommendation............ 20 
 
EN 3   EN 7.3. Re-establish Formal Rare Diseases Programme ........................................................ 21 
8. Comparing the Options .............................................................................................. 22 8.1. Improving Recognition and Visibility of Rare Diseases............................................ 22 8.2. Supporting Policies on Rare Diseas es in the Member States..................................... 23 
8.3. Developing European Cooperation, Coordina tion, 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. Comitology and Monitoring Mechanism................................................................... 25 10. 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 
 
EN 4   EN 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 peop le in the European Union 27 Member States 
that are, or will be, affected by a rare disease. 
Rare diseases present a special case to pub lic health systems due  to their specific 
characteristics, vast number and diversity, lo w patient density, limited resources, limited 
access to experts, and difficulties with effective tr eatment. 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 recogn ition and visibility of ra re diseases; (ii) lack of strategies for rare 
diseases in the Member States; and (iii) lack  of European cooperati on, coordination, and 
regulation for rare diseases. The problems iden tified in this final category can be further 
defined as inequitable access to healthcare, limited research, and an insufficient and 
incoherent legislative framewor k within the European Union. 
Thus, there is a need to act in a cohesive ma nner, as there is no effective way in which the 
Member States can ensure proper  recognition and visibility of ra re diseases on their own. This 
initiative would give formal visibility and reco gnition to this process, which also provides the 
opportunity to follow through with  solutions to many of the pr oblems posed by rare diseases 
that have been outlined above and will be di scussed further in this Impact Assessment. 
On this basis, the preferred option is to set ou t 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 dissemi nation of scientific inform ation on rare diseases for 
patients and clinicians;  
• a proposal for a Recommendation of the Counc il on establishment of coherent and 
comprehensive strategies for rare diseases  in the Member States, based on Article 152 
TEC. 
2. P
ROCEDURAL ISSUES AND CONSULTATION OF INTERESTED PARTIES  
2.1. Organisation and Timing 
A White Paper on a European Actio n in the Field of Rare Diseases (Rare Diseases: Europe's 
Challenges) was included as a strategic ini tiative 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/pro grammes/docs/clwp2008_en.pdf 
 
EN 5   EN 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 Di rectorate. Its aims are: 
• to advise and assist the European Comm ission 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 dise ases through European coordination; 
• to provide a forum for discus sion and exchange of views and experience on all issues 
related to rare diseases. 
The Task Force is led by Dr. Ségolène Aymé, me dical 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 curr ently has 36 members comprising current and 
former project leaders of European research pr ojects related to rare diseases, Member State 
experts and representatives from rele vant international organisations.  
After the preparation of the First Draft of the Public Consultation on a Eu ropean Action in the 
Field of Rare Diseases, the firs t presentation of the strategic or ientations 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 Europe an 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 Eu ropean Action in the Field of Rare Diseases 
prepared by the Drafting Group and the Europ ean Commission was submitted for discussion 
with the most relevant stakehol ders at the following meetings: 
• The European Workshop on Reference Netw orks 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 (Rom e, 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 Ne tworks from the High Level Committee on 
Health Care (Brussels, 30 January, 2008) 
• A discussion with the patients’ organisa tions was organised during the European 
Conference on Rare Diseases (see point 2.2.2). 
After the conclusion of the P ublic Consultation, the Draftin g Group met on 13 February, in 
order to help the Commission in th e analysis of the results of th e 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 Fi eld of Rare Diseases was officially launched 
by Andrzej Ry ś (Director of Public Health at the European Commission)  in the opening 
 
EN 6   EN speech of the Conference. Questions formulated in the Public Consultation refer to the main 
topics affecting rare diseases: definition of rare diseases, cla ssification, and codification, need 
of a European inventory of rare diseases, equity of c itizens’ 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 stak eholders acting in the ra re diseases community. 
2.2.3.  Inter-Service Steering Group 
An Inter-Service Steering Group was set up for th e 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 leve l is retained in 100% of answers as the most 
appropriate. There was a gene ral support for a new overarch ing, 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) to improve information, identificat ion and knowledge on rare diseases; 
(2) to support implementation of Nati onal Plans for Rare Diseases; 
(3) to improve prevention, diagnosis and car e of patients with Rare Diseases; 
(4) to develop national/regional centres of refe rence and establish EU  reference networks; 
(5) to ensure equitable access to all EU patie nts to orphan drugs and compassionate use; 
(6) to develop specialised and adapted social  services for rare diseases patients; 
(7) 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; 
(8) to empower patients with Rare Diseas es at individual and collective level; 
(9) to develop the international cooperation on rare diseases; 
(10) to coordinate the policies a nd initiatives at EU level. 
Only in this last point do certain controversie s appear referring to wh ether or not to create a 
European Agency on Rare Diseases. Key outcome s of the consultation meetings have also 
been fed into this paper. 
2.2.5.  Impact Assessment Board 
The Impact Assessment Board was consul ted on 18 June 2008. Following the Board’s 
opinion, the following important modifications, amongst others, have been made to this 
impact assessment. 
(1) In the introduction, an extra section has b een added to show th e contribution of the 
ongoing EU actions to create best practic es in the field of rare diseases. 
(2) In section 4.2 of the problem definition, we have outlined to current baseline activities 
taking place in the Member States, provi ding more clarity on existing polices. 
 
EN 7   EN (3) The policy options section has been reorganised. 
3. INTRODUCTION  
3.1. Introduction to Rare Diseases 
Rare diseases are life-threatening or chronicall y debilitating diseases with a low prevalence 
and a high level of complexity. Most of them are genetic dis eases, 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 morbid ity or avoidable premat ure 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 th e 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 design ation of a medicinal product as 
an orphan medicinal product [article 3]. Accordi ng to the relevant provisions of article 3, a 
medicinal product shall be designated as an "orp han medicinal product" when intended for the 
diagnosis, prevention or treatment of a life-th reatening 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 literature
3, 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 def ects. Most rare diseases are ve ry rare, affecting one in 100,000 
people or less, such as Gauc her disease, Ewing sarcoma, Duchenne muscular dystrophy, or 
Von Hippel-Lindau disease. Thousa nds of rare diseases affect only a few patients in Europe 
such as Pompe disease, alternating hemiplegia, or Ondine syndrome. Pa tients with very rare 
diseases and their families are particularly isolated and vulnerable. 
There is also a great diversity in the age at wh ich 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 app ear 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, of ten in combination with  genetic susceptibility. 
Some are rare forms or rare comp lications of other common diseases. 
Relatively common conditions ca n hide underlying rare diseases ; examples include autism 
(which is a major symptom in Rett syndrom e, fragile X, Angelman syndrome, adult 
                                                
 
2 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). 
3 Prevalence of rare diseases: A bibli ographic survey July 2007 - Orphanet 
 
EN 8   EN 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 type s 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 innovati ve medicinal products that received market 
approval in the EU ( orphan drugs ). Research on rare diseases ha s proved to be very useful to 
understand better the mechanism of common cond itions 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 s cattered 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 ve ry limited market for each dis ease. 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 th at 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 ha ve—if dealt with—bigger potential for health 
gain on global populations. The price for resear ch 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 impr ove the situation for the citizens of Europe. 
Moreover, any action needs to involve coope ration and coordination between the Member 
States to be effective, and the current EU le gislative framework is poorly adapted to rare 
diseases (see 4.3.3). Below is a brief list of prev ious and ongoing activities in the field of rare 
diseases; for a detailed list with ex planations, please refer to Annex 10.2. 
• Community Action Programme on Rare Di seases 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 prior ity 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 Progra mmes 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 th e Orphanet platform) and ERA-Net projects4. 
• FP7 recognises rare diseases a pr iority 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 Stat es 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.  
 
EN 9   EN • The Orphan Medicinal Product Re gulation was adopted to set up the criteria for orphan 
designation in the EU and describes the in centives (Regulation (E C) 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 Gr oup 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 in tegrate 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 prog rammes 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 da tabase for rare diseases and orphan drugs 
for the general public in Europe; 
• the successive projects implemented by EURO RDIS 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 (Surveilla nce of congenital anomalies in Europe) that provides 
essential epidemiologic information on congeni tal 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 For ce on Rare Diseases, created by DG SANCO in 
2003, in defining of the framework for the creati on of European Reference Networks and the 
ongoing revision of the International Classifi cation 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 coordi nated research projects supported by the 
successive European Community Framework Programmes for Research and 
Technological Development
5. 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 tran s-national activities (survey on national 
programmes, identification of gaps and ove rlaps 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  
                                                 
5 See http://cordis.eur opa.eu/fp7/home_en.html  
6 See http://www.e-rare.eu/cgi-bin/index.php  
 
EN 10   EN (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 de scribes 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 medi cinal product designati on” for products they 
intend to develop for the diagno sis, 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 mark eting authorisation  for the treatment of more than 40 different 
life-threatening or chro nically 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. PROBLEM DEFINITION  
4.1. Lack of Recognition and Vi sibility of Rare Diseases 
Although rare diseases heavily contribute to morb idity 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 cycl e 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 se rious issue is the lengt h 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 profes sional 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, defi nitions, 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 dis eases. 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 Di seases 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 ma kers 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 fragmentatio n of the limited resources available for rare 
                                                
 
7 Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on 
orphan medicinal products 
8 See http://www.emea.europa.eu/htms/general/contacts/COMP/COMP.html  
 
EN 11   EN diseases, thus it is essential to have a specific  plan to concentrate and make efficient use of 
these limited resources that would otherwis e 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 integrat ed action plan (2005-2008)9, the rest of MS have national policies 
in a limited number of areas: 
(1) focus only in centres of expert ise (Italy, Denmark, United Kingdom); 
(2) focus only on research (Spain, Germany, The Netherlands); 
(3) priority only the orphan dr ugs dimension (Ireland); 
(4) support to patient's organisations in ab sence of a national public health action 
(Romania, Luxembourg). 
In certain cases initiatives in order to esta blish a National Plan on Rare Diseases are in 
process (Bulgaria, Portugal). In  the rest of MS no evident targ eted 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 in to delayed diagnosis and difficult access to care. 
This results in additional physical, psychologi cal, and intellectual impairments, sometimes 
birth of affected siblings, inade quate 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 co mmon 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 availabili ty and quality. There is a lack 
of reference networks, and access to care, res ources, and expertise may well only be available 
in another Member State. A few MS have successf ully 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 e xperiences 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 foll ows (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 comm unication between the various professionals; 
improved social services, especia lly those linked to the rarity of the disease; and the right 
balance between specialisation (a centre wi th critical mass and knowledge) and proximity 
from home (to avoid having to travel) . 
• 20% of patients experienced some rejection by health professiona ls because of their 
disease (main reason: complexity of  the disease, in 80% of cases). 
                                                 
9 See http://www.orpha.net/actor/Europa News/2006/doc/French_National_Plan.pdf  
 
EN 12   EN • 70% of patients needed the serv ices of a social worker, but in  30% of cases, the access to 
this service was difficult; the less frequent th e 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 appoint ment being the main factor of difficulty. 12% of patients 
failed to access at least one of the eight essent ial 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 majori ty of them being of 
genetic origin. Although individua lly rare, rare diseases in to tal affect at least 20 million 
persons in Europe. They represent a major issu e 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 imp act on quality of life and the h ealthcare system. Diagnosis of a 
rare disease is often delayed, and for the major ity 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, furthe r research on rare diseases is needed but is 
hampered by inefficiency and fragmentation of the limited resources available at several levels: 
(1) Few scientists work on one specific disease; 
(2) There are few patients scattered over a large geographic area, causing difficulties to 
gather cohorts required for studies; 
(3) Existing databases and material collections ar e usually local, small, and not accessible 
nor standardised; 
(4) Diseases often have complex clinical phenotypes and require interdisciplinary 
approaches to treatment and interd isciplinary 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 co mbining scientific expertise, research 
infrastructure, well-defined patien t cohorts, and biological material. 
4.3.3.  Insufficient Legislative Framework 
The current EU legislative framework is poorly  adapted to rare dise ases, which present a 
special case due to their speci fic characteristics, vast numb er and diversity, low patient 
density, and limited resources. The relevant ex isting Community legisl ation, 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 ar ea in public health in which 27 national approaches could be 
considered as inefficient and in effective as with rare diseases . The reduced number of 
patients for these diseases and the need to mobilise resources means that the scale and nature 
 
EN 13   EN 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 th at would be required; 
for example, for many diseases, there is simp ly 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 patient s, should travel - although patients should also be 
able to travel to the centres if they need to. 
However, many interventions that would have an imp act in this field are in settings that either 
are fully outside the competence of the Comm unity 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 th e 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 fo r protecting and improving  the health of their 
citizens. As part of that respons ibility, it is for them to deci de 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 effi cient 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 coordina tion 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 th e international reference for classification of 
diseases and conditions coordina ted by the World Health Organisa tion (WHO). It is key step 
in raising awareness and recognitio n of rare diseases at an inte rnational-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 emer ging diseases and scientific developments, advances in 
service delivery, and changes in health inform ation 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 coordi nating point. This initiative would give formal 
visibility and recognitio n to this process, which also pr ovides the opportunity to follow 
through with solutions to many of the problems pos ed 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 certai n 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 contribut ing via projects (Eur ocat) to some WHO 
actions (International Database on Craniofacial Anomalies (IDC FA)). In the case of OECD, 
rare diseases are not planned to be pa rt of any action of this organisation. 
 
EN 14   EN 4.4.2.  Added-Value Test 
There is also a wide range of health issues wh ere 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 Memb er States, has made 
important progress in improvi ng and protecting health.  
The EU can add value through a wide range of activ ities. 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 affect ed in each Member State—or performing 
collaborative multidisciplinary research, which proves the most efficient way to better understand the diseases and develop preventi ve, 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 Europ ean 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 ch allenges in the most ef fective manner and to 
advance good governance in health at the EU leve l, 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 di seases is found in th e contribution of the 
Communication to an equitable ac cess to all EU patients to sa fer and more efficient orphan 
drugs and to the compassionate use. In an EU contribution to develop specialised and 
adapted social services for rare diseases pa tients and, especially, to the development 
national/regional centres of  expertise establishing EU  reference networks  
• Creating a Coherent Framework for Identific ation 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 ra re diseases to se t a strong basis for 
diagnosis and care of patients;  rationalise current mechanis ms; support strategic action on 
rare diseases at national leve l; strengthen cooperation between  Member States at EU level 
and to improve a common approach to preventi on, diagnosis and care of patients with Rare 
Diseases. 
• Creating an Improved Framework fo r Research on Rare Diseases 
Added-value of an EU approach on rare di seases is found to accelerate research and 
developments in the field of Rare Diseases and Orphan Drugs by allowing 
multidisciplinary collaborative research, by strengthening the limited and scattered expertise on rare diseases at European level. 
5. O
BJECTIVES  
The overall objective for Community action on rare  diseases is to support Member States in 
ensuring effective and efficient recognition, pr evention, diagnosis, treatment, care, and 
research for rare diseases. This is suppor ted by the Commission’s strategic goals of 
prosperity, solidarity, and security. This is to  be achieved through th ree specific objectives. 
 
EN 15   EN 5.1. Improving Recognition and Vi sibility on Rare Diseases 
The key to improving overall strategies for rare di seases 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 Classi fication of Diseases, 
coordinated by the World Health Organisation (WHO10). The ICD is defined by the WHO as 
being “the international standa rd 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 diseas es and other health pr oblems recorded on many 
types of health and vital reco rds including death certificates  and hospital records. These 
records also provide the basis for the comp ilation of national mortality and morbidity 
statistics. The EU should thus cooperate closel y with the WHO in the process of revising the 
existing ICD (International Classification of Diseas es) 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 affe cted persons. This will contribute to tackling 
some of the main causes of neglecting the issue of rare diseas es. A better coding and 
classification system will also he lp patients to understand the ra re disease in order to talk 
about it to their peers, re latives, carers, and doctors.  
5.2. Supporting Policies on Rare Diseases in the Member States 
Efficient and effective action for rare diseases de pends on a coherent over all strategy for rare 
diseases mobilising scarce and scattered resource s 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 di seases across the EU, in order to establish a 
shared basis for collaboration. The EU could ther efore 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, c oordination, 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 coordi nate 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 adde d therapeutic value for rare diseases. 
                                                
 
10 See http://www.who.int/cla ssifications/icd/en/ .  
 
EN 16   EN 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 a nd the challenges to be me t. In particular, we do 
not explore self-regulation or ha rmonisation in any detail, as the problems and objectives to 
be addressed in the field of rare diseases ar e not appropriate for either self-regulation or 
Community harmonisation. 
As set out in the report  on self-regulation practi ces in SANCO policy areas11, self-regulation 
refers to “the possibility for economic ope rators, the social pa rtners, non-government 
organisations, or associations to adopt am ongst themselves and for themselves common 
guidelines at European level (particularly codes of practi ce or sectoral agreements)". 
However, this is not a viable solution for resolution of the problems identified, which cannot 
be effectively addressed by independent operato rs but which precisely require a collective 
approach also involving public authorities. Effect ive recognition and visibili ty 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 Ins titutions. The options 
chosen therefore focus on options including enga gement of those stakeh olders 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 i ndividual 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 pr ogrammes and existing actions, but without 
combining these with the political authority and visibility of a formal Commission initiative. 
The Commission would continue to support indi vidual actions in different programmes, and 
existing legal provisions such as the legislat ive framework for orphan drugs would remain. 
However, these would not be brought toge ther into a single integrated strategy. 
6.2. Commission Communication and Prop osal 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 di fferent 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 pro cess of revision of the ICD (I nternational Clas sification of 
Diseases) in order to ensure appropriate codifi cation 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  
 
EN 17   EN – Providing and disseminating scientific inform ation 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 me dicines 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-bor der healthcare, to 
establish a list of existing national centres of expertise for rare diseases identified in the 
MS, and to explore the potenti al for Community financial s upport 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 framew ork, including the regul ation on orphan drugs, 
with a view to considering whether any additio nal proposals are necessary in order to meet 
the needs of people with rare diseases12. 
The Commission would also propose a Recomme ndation of the Council, recommending that 
Member States establish coherent and comprehensive strategies for rare diseases, and setting out the overall elements that such strategi es 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 identific ation and recognition of rare diseases;  
– Ensure access to information for patients an d professionals about their diagnosis and 
treatment with plans and mechanisms  for referral where appropriate; 
– Establish priorities for resear ch and development for rare diseases and their treatments;  
– Support patients’ groups with the invo lvement of health professionals. 
6.3. Re-establish Formal Rare Diseases Programme 
Under this option, the Commission would propos e establishing a specific programme with a 
single detailed strategy for rare diseases he althcare 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 th e previous specific programme on rare diseases. 
The aim of the previous programme
13 was to contribute, in coordination with other 
Community measures, towards ensuring a high leve l of health protection in relation to rare 
diseases. This would be achieved by impr oving knowledge, for example by promoting the 
setting-up of a coherent and complementary Eu ropean information network on rare diseases, 
                                                 
12 Any such proposals would of course be accompanied by their own impact assessment. 
13 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. 
 
EN 18   EN and facilitating access to info rmation about these diseases, in particular for health 
professionals, researchers and t hose affected directly or indi rectly by these diseases, by 
encouraging and strengthening trans-national cooperation between  voluntary and professional 
support groups for those concerned, and by en suring optimum handling of clusters and by 
promoting the surveillance of rare diseases. 
However, this Programme was conceived as a fina ncial instrument in or der 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 Eur opean 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 ad opt measures under the Statistical Regulation 
of the Council and Parliament on st atistics on public heal th and health and safety in order to 
put in place a binding legal requirement for th e collection of data on rare diseases by the 
Member States. 
7. A
NALYSIS OF IMPACTS  
There is probably no other area in public heal th 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 relative ly 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 wa y. The results of the actions financed so far 
have provided sufficient availa bility of data to demonstrat e 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 w ithin the Union. The innovative tools and methods developed 
during research on rare diseases  can often subsequently be a pplied to more common diseases, 
thereby benefiting a wider population than only the rare diseases patients. Currently, many 
patients have difficulty identif ying their condition or in fi nding a doctor with sufficient 
relevant expertise to do so; this is often ex acerbated by expertise being unevenly distributed 
across the Union, and often onl y available in a limited num ber of languages (typically 
English). 
Environmental Impact 
Due to the nature of the initia tive, 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 res ources for rare diseases. Also, innovation fostered 
by researching rare diseases can benefit the soci ety at large. Rare diseases are often complex 
and difficult to treat, given the high cost of the rare diseases treat ment, and have clear 
economies of scale from effici ently bringing together expert ise and treatment facilities. 
 
EN 19   EN Although the number of people with individual dise ases is low, as outl ined above the total 
number of people affected by rare diseases is su bstantial. 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 qualitativ e in nature; this is proportiona te, given that the options under 
consideration and ultimately recommended are for technical cooperation, non-binding "soft" 
law and European-level cooperation, not harmon isation 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 c ontroversial 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 di fferent rare diseases. 
However, without some form of formal political recognition and visibilit y, this work will lack 
effectiveness, as the identification and categ orisation will not be accepted and taken up 
throughout the Union, leading to in equities across the Union re garding access. Currently, only 
one Member State has a formal national strategy  for rare diseases (France), although some 
others have other releva nt actions. This leads to great inequi ty within the Uni on, with the vast 
majority of EU citizens receiving suboptim al healthcare provision. These impacts on 
mortality and morbidity rates woul d be subsequently higher if relevant healthcare services 
specific for rare diseases were provided. More over, without this consensus throughout the 
Union, any proposed revisions to the internationa l 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 accep ting a level of cooperati on with international 
institutions that is not optimal as well as an a pproach to global health information serving EU 
policies that is heterogeneous, frag mented, and sometimes contradictory. 
Given the complexity and time-consuming nature of establishing such strategies from scratch, 
it seems unlikely that without prov iding a clear referen ce point bringi ng together existing best 
practices from across the Union, Member States w ould be able to establish such strategies – 
and doing so would certainly be less efficient th at being able to draw on an agreed European 
reference point. As Member States work to de velop their own actions on rare diseases, it is 
important to have clarity about  what is being done at Commun ity level and how the different 
elements fit together. Simply continuing individu al actions risks being in efficient with regard 
to action within Member States, who will not al ways be aware of what is being done in the 
different areas at Community level. This coul d 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 duplicatio n of effort. As always with rare diseases, the resources 
available remain limited; simply continuing in dividual 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. Th e lack of a shared iden tification and recognition 
of rare diseases will also undermine innovation;  developing new safe an d efficient therapies 
 
EN 20   EN which bring a new added therapeutic value depe nds on a sufficiently la rge patient population 
to participate in research and provide an ec onomic 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 establishi ng these strategies w ithout guidance and a European approach 
makes this option nonviable for many Member Stat es. 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 Comm unity action on rare diseases. Actions have 
grown up and spread across a wide variety of po licy areas, legal instru ments and programmes, 
potentially now including the st ructural funds, research funds , health programme, e-health 
initiatives, licensing frameworks for medicines and medical devices, and the EU health portal. 
However, precisely because of th e results now available and variet y of initiatives  being taken, 
there is a risk of inefficiency from  a lack of a single overall strategy. 
7.2. Commission Communication and Prop osal for a Council Recommendation 
Social Impact 
By setting out its processes for improving recogniti on and visibility of rare diseases through a 
Communication, the Commission would help to en sure that this process would have the 
involvement of all relevant stakeholders, and th at the results would be coherent, accepted, and 
used throughout the Union. Databases and regist ries 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 Eur opean 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 thei r recognition by patients, professionals, and 
health authorities, ensuring that they w ill 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 w ith respect to access to 
expert services. An overall stra tegy would not only improve the equity of access to services 
and treatment, but also the quality of th e treatment provided. Moreover, coordinated 
cooperation and regulation would enhance the cross-border provi sion of healthcare services. 
There would thus be a substantia l 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 pr ovide a formal legal and political commitment to the 
Member States whilst maintaining flexibilit y in the implementation. This approach is 
specifically provided for in Artic le 152 as an appropria te tool in the hea lth 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 €40 m, research €22.5m (with an additional €20m 
from ministry of research), and developing partnerships €160 000. 
 
EN 21   EN greater equity and quality in the provision and access of services, and thus have a positive 
effect on the health of the populat ion within the Member States. 
A Council Recommendation has been successfully used already; the 2003 Council 
Recommendation on population-based cancer sc reening is an exam ple of how such a 
recommendation has been successful in codifyin g 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 take n 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 on ly 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 regi stries. The economic impact of a formal 
Commission Initiative would thus  be positive overall, even ta king into account the central 
Community investment through the existing health programme . Moreover, the dissemination 
of the subsequent information would be grea tly facilitated with a minimal incremental 
increase in costs, as it would take advantage of already established we b portals and networks, 
in particular the EU Health Portal. 
Coordinated support is especially important in th e field of rare diseases where resources are 
so limited and scattered throughout the EU. A cohe rent approach would significantly increase 
the efficiency and efficacy of any proposed actions, whereas the recognition of a formal procedure would support the implementation in th e 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 knowle dge and better identif ication of rare diseases. Enhanced 
regulation would subsequently  facilitate the introducti on and dissemination of new 
technologies such as orphan medical products, and allow more efficient use of resources 
currently available within the EU, but perhaps no t available in all Member States. This would 
further reduce the budgetary bur den on the public authorities  within individual Member 
States, through permitting cooperation in the di fferent areas of research and expertise. 
7.3. Re-establish Formal Rare Diseases Programme 
Social Impact 
The solid evidence base would improve access to health system s and increase awareness, and 
thus visibility, of rare diseases. It would al so allow improved monitoring of life expectancy, 
mortality, and morbidity in the Member Stat es, and thus have an impact on health and 
provision of services. The resu lting 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 organisa tion of healthcare for diagnosis, treatment, 
and care of rare diseases w ithin health systems. This would undoubtedly provide more 
detailed guidance at Community level than  a Council recommendation, which would set out 
 
EN 22   EN general principles that are then adapted to th e 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-spec ific healthcare across the Uni on, thus reducing the current 
inequities. The increased service provision w ould thus positively affect health of the 
population. 
The re-establishment of a formal rare disease programme would offer ve ry little increase in 
the efficiency of actions compared to a Commission strategy. Thus, relaunching a formal 
programme would not offer significant a dvantages over the other options outlined. 
Economic Impact 
Following definition of rare diseases with a re quirement for compulsory data collection under 
the Eurostat Regulation would certainly have ad vantages in terms of ensuring comprehensive 
data regarding rare diseases. However, the administrative bur den on public authorities of 
requiring such data for the 5 000-8 000 rare di seases from throughout the Union would be 
substantial. The additional cost of integrating data collection on rare diseases into the European statistical system woul d be substantial. Using the cost  of establishing surveillance 
networks as an example; Eurocat (Surveilla nce 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 Anae mias) cost €1 129 667 for a 36-month period. 
This is a total of over €2.6m for only two survei llance projects. This cost  of establishing such 
networks for all rare diseases does not app ear to be proportionate given that reasonably 
accurate data is already frequently availabl e through less administratively burdensome routes 
(e.g. through patients’ organisatio ns and expertise networks). 
This option would also raise questions abou t 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 na tional health systems, and thus  the greater the implementation 
costs and administrative burden fo r both the public administration at the Member States level 
and EU level. 
Although areas such as research and technological development w ould benefit, to re-establish 
a formal EU programme on rare diseases woul d require a substantial level of funding to be 
viable. It would also lose the a dvantages of having rare diseases  integrated into a wide range 
of different policy areas and actions, potenti ally creating much broader synergies and 
releasing greater resources than any specific pr ogramme on rare diseases could generate. This 
therefore does not appear to be  the most efficient approach. 
8. C
OMPARING THE OPTIONS  
8.1. Improving Recognition and Vi sibility of Rare Diseases 
 Baseline  Option  Commission  
Communication  Compulsory 
Requirement for Data Collection 
Advantages Better identification & 
categorisation of rare diseases Improved recognition 
of rare diseases; 
engagement of 
relevant stakeholders; Improved evidence 
base on rare diseases; improved monitoring of public health; improved 
 
EN 23   EN adoption of the results. and more equitable 
provision of services. 
Disadvantages Reduced likelihood of 
classifications being adopted; duplication and inefficiency of work; continued inequities in access to care across the Union. Depends on 
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 
Council 
Recommendation EU-Level 
Healthcare Strategy for RD 
Advantages Maximum flexibility for 
Member States to organise health systems as they 
wish. Formal legal & 
political commitment; 
maintain flexibility; 
increased efficiency 
& efficacy of actions; 
pooling of resources. Detailed guidance at 
EU-level; more effective in detailing 
best practice; 
increased healthcare provision. 
Disadvantages Inequities in access and 
quality of healthcare for rare diseases persist; lack of clear reference point; inefficient establishment of national strategies; resources remain fragmented. No legal requirement 
for Member States to 
comply. Significant 
restructuring of national health systems; issues with subsidiarity. 
8.3. Developing European Cooperation, Coor dination, and Regulation for Rare 
Diseases 
 Baseline Option 
Commission 
Communication Re-establish Rare 
Diseases Programme 
Advantages Avoids any need for 
redirection of existing Community actions.  Improve equity in 
access to and quality 
of healthcare 
provision for rare 
diseases; enhance 
cross-border 
cooperation; decrease 
in mortality & 
morbidity from rare 
diseases; reduce Provides political 
visibility of Community funding for rare diseases. 
 
EN 24   EN inefficiencies; 
stimulate research; 
facilitated 
introduction of 
technology. 
Disadvantages Continuing actions 
inefficient; lead to greater inequities; resources remain limited and scattered. Depends on 
cooperation across a 
wide range of 
programmes and 
actors at Community 
level. Substantial level of 
funding required which is not 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 br ing forward proposals for a Community strategy for 
rare diseases set out in a Co mmission Communication, focused on: 
– confirming the definition of rare diseases for Community work, and setting out next steps 
for technical work to ensure appropriate codifi cation 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 fo r 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 st rategies 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. M
ONITORING 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 wo uld cover the following areas, with example 
indicators shown (an indicativ e, 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 (Poten tial Years of Life Lost), DALY (Disability-
Adjusted Life Years), HLY (Healthy Life Years)  
• HTA tools to measure efficacy of the treatments.  
 
EN 25   EN 9.1.2.  Determinants of Health and Socio-economic Factors  
For example: 
• Biological and personal factors;  
• Perceived and functional health (Quali ty 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 hos pitals due to rare diseases; 
• Number of laboratories certi fied 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 database s and laboratory netw orks 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 (nationa l 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 perf ormed 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 ra re diseases. The existing EU Task Force on Rare 
Diseases is composed of Projec t leaders of the Health Programme  and FP Projects; the official 
participation of the MS is currently very lim ited. 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 orga nisations, representative s from industry, and 
other interested bodies. 
 
EN 26   EN 10. ANNEXES  
10.1. List of Diseases by Decreasing Prevalence 
 
EN 27   EN 

 
EN 28   EN 
 
 
EN 29   EN 
 
 
EN 30   EN 
 
 
EN 31   EN 
 
 
EN 32   EN 
 
10.2. Previous and Ongoing Activities 
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 coor dination 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 im proving 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, recogniti on, intervention, and 
prevention; promoting and encouraging transn ational 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 2003-2007
16. 
                                                 
15 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)  
16 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) 
 
EN 33   EN 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 significanc e in view of the over all burden of diseases in the Community, and on 
rare diseases, where Community action by tack ling their determinants ca n provide significant 
added value to national efforts'. 
The White Paper COM(2007) 630 final “Togeth er 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 a dvancing knowledge on rare diseas es has been provided for two 
decades through collaborative and coordinated re search projects supported by the successive 
European Community Framework Progra mmes for Research and Technological 
Development19. The necessity of multidisciplinary approaches, the low number of patients 
available for each study and the scattered specia lists with complementary expertise makes it 
indispensable to pool resources at European level. The coordi nation 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 suppor t provided to some 60 
multidisciplinary collaborative projects. These mobilised top researchers, tackled fragmentation in the field, and produced new knowledge on rare diseases, on which future 
researches can be built. 
Amongst others, FP6 supported coordi nation 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 over laps among national research 
programs and activities on rare diseases). The ra re diseases activities in FP6 also allowed 
involvement of representative pati ent organisations (by participat ion 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 re search projects in the Hea lth Theme of the "Cooperation" 
Specific Programme, designed to improve the h ealth 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 (transla tion of basic discoveries into clinical applications, including 
scientific validation of experimental result s), the development, and validation of new 
therapies, methods for health promotion and pr evention (including promo tion of child health), 
healthy ageing, diagnostic tools and medical tech nologies, as well as sustainable and efficient 
healthcare systems. More specifically, the focus for rare disease research in FP7 is on Europe-
                                                
 
17 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 
18 See http://ec.europa.eu/health/ph_overv iew/strategy/health_strategy_en.htm  
19 See http://cordis.eur opa.eu/fp7/home_en.html  
20 See http://www.e-rare.eu/cgi-bin/index.php  
 
EN 34   EN wide studies of natural history, pathophysio logy, and the development of preventive, 
diagnostic, and therap eutic 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 assistan ce, and access to the Centralised Procedure for 
Marketing Authorisation. This ai ms to encourage the research, development, and marketing of 
medicines to treat, prevent, or diagnose ra re 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 “o rphan medicinal product 
designation” for products they intend to develo p 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 e xpertise for rare diseases.  In 2006, the Rare Diseases Task Force 
submitted a report ‘ Contribution to policy shaping: Fo r 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 dise ases in Europe as well as th eir respective functions. The Work 
Plans 2006 and 2007 for the implementation of  the EU public health programme have 
introduced the development of European Referen ce 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. Est ablishing 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 system s 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 stake holders, and the patient community of rare 
diseases. 
                                                 
21 Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on 
orphan medicinal products 
22 See http://www.emea.europa.eu/htms/general/contacts/COMP/COMP.html  
23 See http://ec.europa.eu/health/ph_threats/non_com/rare_8_en.htm  
24 See http://www.eurordis.org  
 
EN 35   EN 10.3. Results of the EURORDIS Survey 
 
 
 
EN 36   EN 
 
 
EN 37   EN