COMMISSION OF THE EUROPEAN COMMUNITIES 
Brussels, 26.05.1997 
COM(97) 225 final 
97/0146 (COD) 
COMMUNICATION FROM THE COMMISSION 
concerning a programme of Community action on rare diseases within the framework for 
action in the field of public health 
Proposal for a 
EUROPEAN PARLIAMENT AND COUNCIL DECISION 
adopting a programme of Community action 1999-2003 
on rare diseases in the context of the framework for action 
in the field of public health 
(presented by the Commission) 

COMMUNICATION FROM THE COMMISSION 
concerning a programme of Community action on rare diseases within the framework for 
action in the field of public health 
CONTENTS 
I. INTRODUCTION 
IL IMPORTANT ASPECTS OF RARE DISEASES 
III. DEFINITION OF RARE DISEASES 8 
IV. OVERVIEW OF PUBLIC HEALTH ACTIONS IN THE MEMBER 
STATES AND INTERNATIONALLY CONCERNING RARE 
DISEASES 10 
V* OVERVIEW OF COMMUNITY ACTIONS RELEVANT TO RARE 
DISEASES 11 
VI. COMMUNITY ACTION PLAN 12 
VII. CONSULTATION, ASSESSMENT AND REPORTS 16 
I. INTRODUCTION 
1 In its Communication of 24 November 1993 on the framework for action in 
the field of public health1 the Commission defined objectives for protection of 
health as laid down in Article 3(o) and 129 of the Treaty establishing the 
European Community. The role of the Community is identified as 
underpinning the efforts of the Member States in the public health field, 
assisting in the formulation and implementation of objectives and strategies, 
and contributing to the provision of health protection across the Community, 
setting as a target the best results already obtained in a given area anywhere in 
the Community. 
2 In initiating action under Article 129, the Community has to address itself to 
preventing diseases, particularly the 'major health scourges' and protecting 
health. Based upon criteria laid down in the Cornmission communication, rare 
diseases have been identified as a priority for Community action. 
3 Public health is by definition addressed to the health needs of the entire 
population. This means that available health services and resources, 
particularly preventive measures, should be used for the benefit of as many 
people as possible. This principle applies just as much to those affected by 
rare diseases as it does to those affected by the 'major health scourges'. 
However, the very fact of the rareness of the low-prevalence diseases and 
conditions and the consequent lack of information about them can lead to 
many affected by these conditions not receiving the health resources and 
services they need. This is because there may be a particular shortage of 
relevant information and expertise and a lack of consensus about appropriate 
intervention for a specific rare disease. 
4 The Commission's framework communication on public health presents 
several criteria for deciding on Community priorities. These are: a disease's 
impact on morbidity and mortality, a disease's socio-economic impact, how far 
a disease is amenable to effective preventive action and of particular 
importance, how far there is scope for Community actions to complement and 
add value to what is being done by the Member States. 
5 Clearly rare diseases do not meet the criteria on a population level. However 
at the level of the individual and family they do cause significant premature 
morbidity, mortality or loss of disability-free life. With regard to whether they 
COM(93) 559 final 
are preventable, this varies between the thousands of rare diseases; some are 
now so, some may become so in the future. But the final criterion, that of 
providing added value at Community level has a particular relevance to rare 
diseases. 
6 It is self-evident that rare or low-prevalence diseases have a limited impact on 
society as a whole and are responsible for relatively little morbidity and 
mortality. They cannot therefore be considered as being major health 
scourges. However, they are by no means unimportant economically, for 
providing effective advice, diagnosis and health interventions tends to cost 
disproportionately more than similar provision for more common conditions. 
7 In this area there is much that the Community can offer. Work at Community 
level can confer a number of important benefits. In particular, because of the 
much larger population of the Community as a whole, individual cases can be 
aggregated to form a much larger group sharing the same characteristics. This 
provides the opportunity to undertake a much wider range of interventions and 
to initiate co-ordinated actions with patients who might otherwise be isolated 
¥ or incorrectly diagnosed. 
8 The public health importance of rare diseases can also be considered in 
another way. They can sometimes occur with greater frequency in particular 
regions and in specific population groups, such as ethnic communities, than in 
the national population as a whole. Thus the consequences at national level 
may be slight, but at regional or group level they may be very significant. This 
is particularly true for genetic diseases. 
9 Moreover, one should not forget the wider issue of diseases which are rare in 
the European Community but common elsewhere in the world. We could use 
our expertise to provide assistance in the fight against tropical diseases which 
are rare in our lands but, can cause huge suffering and loss of life in the 
developing world. 
10 In addition, some diseases with a low prevalence at present may in the friture 
become major health scourges. This is for instance possible if the disease is 
caused by an unknown agent as was the case with HIV/AIDS or more 
recently with Bovine Spongiform Encephalopathy/Creutzfeldt-Jacob Disease 
(BSE/CJD). A similar effect can be caused by a newly introduced medicinal 
product, thalidomide being an obvious example. A co-ordinated Community 
approach-offers an effective way to tackle these potentially large-scale health 
problems. 
11 Some diseases and especially communicable diseases which were once very 
common, such as poliomyelitis, have become rare in the Community as a 
result of effective preventive measures, notably paediatric vaccinations. 
However, such diseases can and do re-emerge if for example population 
immunity falls. In this connection the sudden appearance of cases of such a 
disease in one country can provide an early warning to others that their 
vaccinations or other preventive measures may be becoming ineffective. 
Action at Community level can help individual Member States to recognise 
such problems at an early stage and to co-ordinate their response. 
12 The aetiology of many diseases, and especially rare diseases, is unknown. 
Preventive measures are dependent upon this basic knowledge. The 
thousands of rare diseases or conditions, their low prevalence and the limited 
means and budgets for scientific research to unravel their aetiologies, make it 
less likely that swift progress in their treatment and cure will be made. 
Therefore collaboration between the Member States and work at Community 
level in this domain can provide added value to the actions of individual 
Member States. 
13 The limited resources within health systems are primarily, and necessarily, 
directed at major health scourges, thus there is likely to be only limited 
attention given to low-prevalence diseases in individual Member States. It 
falls within the scope of the Community's public health policy to help the 
Member States achieve the most efficient use of resources in this respect, hi 
the case of these conditions there may be real economies of scale by 
combining limited national expertise and resources at Community level. 
14 It is for these reasons that the Commission has decided to ^VQ rare diseases 
priority within the public health framework. 
IL IMPORTANT ASPECTS OF RARE DISEASES 
INFORMATION 
15 An unknown number of Europeans suffer from rare diseases. Many of these 
low-prevalence diseases have no specific patient support organisation or 
agency dedicated to research, prevention, diagnosis or treatment. Information 
of all kinds for patients and their families, physicians, researchers, health 
authorities and the general public is lacking or poorly disseminated. 
16 For rare diseases the sources of appropriate detection, recognition and medical 
care are limited or even non-existent. Little or nothing is available for 
effective prevention and treatment; little may be known to inform the patient 
and his family about the future course of the disease, the possibilities of 
avoiding risks and the creation of environments and life-styles conducive to 
health. 
17 The US National Commission on Orphan Diseases has undertaken a detailed 
study of the problems of people in the USA with these rare conditions. This 
found that it took between 1 and 5 years for one third of them to receive a 
proper diagnosis, and 15% went undiagnosed for six or more years. 
Moreover, the costs of these conditions, in monetary and human terms, are 
enormous. Half the patients said their illnesses caused great financial hardship 
for themselves and their families; and that their diseases prevented them from 
working or attending school. 
PATIENT SUPPORT GROUPS 
18 Patient help groups can play a key role in rare diseases. A number of such 
groups covering many rare diseases have been created in the past decades, 
sometimes in response to a feeling that the statutory authorities were not 
devoting sufficient attention to these conditions. Moreover, there is 
considerable collaboration between these groups at regional and national level 
and internationally, often related to the different groups of diseases. There are 
also several international umbrella organisations, such as the European 
Alliance of Genetic Support Groups (EAGS). These patient and parent 
organisations have a wealth of knowledge based upon their own experience 
with a disease. This is particularly valuable given the facts of frequent delay in 
establishing a diagnosis, the limited knowledge of health care providers, the 
lack of medicinal products, and health insurance problems. 
CLUSTERS 
19 In considering rare, low-prevalence diseases and conditions it is useful to 
address the issue of clusters. These can be defined as an aggregation in time 
and place of occurrences of a rare disease. Another way to put it is that in a 
defined area during a defined period, conspicuously more cases occurred of a 
rare disease than was predicted from the Tjase-line' or the expected number of 
this condition. The need to deal effectively with clusters, (i.e. identifying a 
real increase, detennining causal factors, assessing implications and assuaging 
public concern) is obvious: a specific local factor could have been the cause, 
or contributed to the cause, and this has to be identified. 
20 In dealing with clusters the actions taken should follow a particular order: first, 
identification of a cluster by for example early warning systems; second, using 
monitoring and surveillance systems to establish a comparison with the 
established baselines for the relevant diseases, (however for rare diseases this 
process may not be possible because the necessary epidemiological data may 
not exist.); third there is the need to allay public concern by communicating as 
accurately as possible the risks involved. Handling clusters effectively has 
great benefits for public health. This is not merely because responding to a 
particular problem quickly and adequately can help avoid any possibility of a 
specific cluster developing into a wider problem, but more generally because it 
helps create public confidence in the ability of the authorities to safeguard 
health. 
CLASSIFICATION OF RARE DISEASES 
21 Improper classification of low-prevalence diseases and lack of official 
recognition pose problems in the recognition, detection, treatment and 
prevention of those diseases. Diagnoses identified in the WHO's International 
Classification of Diseases (ICD 10) are grouped into 23 major categories 
based on organ systems; these categories are subdivided into 470 diagnosis-
related groups. In some instances, there is little emphasis on individual 
diseases in these groups. 
22 Moreover, the validity and the usefulness of these classifications for low-
prevalence diseases is limited. There are many instances in which these 
diseases are not included in conventional classification systems, such as the 
ICD and the British Paediatric Association classification for birth defects. In 
other instances, low-prevalence diseases are inappropriately or inadequately 
classified: the ICD classification number assigned to Marfan syndrome, for 
instance, is shared by more than 20 other conditions. 
23 The terms rare diseases or low-prevalence diseases relate to perhaps more 
than 5,000 different conditions or illnesses. There seems to be no common 
denominator to define the entity of a rare disease. Some are based upon 
syndromes (the combination of associated symptoms or defects), or single 
defects or non-associated conditions. Obviously, priorities have to be set 
when actions at a Community level have to be initiated. 
III. DEFINITION OF RARE DISEASES 
PROBLEMS WITH A NUMERICAL DEFINITION 
24 It might seem that a definition of rare or low-prevalence diseases based upon 
numbers of cases would be straightforward. However, in the case of rare 
diseases these data either do not exist, or if they do, the figures produced on 
the basis of routine data collections will be broad estimates which are likely to 
understate the true rate. 
25 Difficulties in estabhshing precise prevalence and incidence rates may arise for 
several reasons: differences in defining a disease; a lack of specific methods to 
monitor patients with these low-prevalence diseases; low diagnostic accuracy, 
particularly for the less serious diseases; and finally, distortion of information 
between data collection and analysis. 
26 Well-known diseases may be classified and sub-classified repeatedly. For 
instance, cancers are often differentiated by pathologic classifications so that a 
number would fit numerical criteria for rare cancers. On the other hand, the 
classification of less-understood diseases is sometimes based upon symptoms 
which in fact group several diseases together. In this way specific low-
prevalence diseases may be subsumed within larger entities. 
8 
DEFINITION BY FIXED NUMBER OR LIMIT 
27 One way to overcome the problems inherent in using a fixed number for the 
definition of rare diseases is to establish limits. The Commission services 
have discussed this question with national experts. Several possibilities for 
fixing limits were discussed: a mortality rate not exceeding a given certain 
figure in a certain number of Community countries, or an incidence not 
exceeding a given certain value or a reported prevalence among Community 
inhabitants not exceeding a certain value. Another possibility might be the 
criterion that the condition is not among the 100 most common causes of 
morbidity and mortality in the European Community. 
PROPOSED DEFINITION 
28 For the purposes of this programme rare diseases will be defined as life-
threatening or chronically debilitating diseases which are of such low 
prevalence that special combined efforts are needed. They are those diseases 
with a generally-accepted prevalence in the total Community population of 
less than 5 per 10,000. Moreover, the diseases to be specifically addressed by 
this programme will be those where special combined efforts are needed to 
ensure that there is no significant prenatal and premature morbidity or 
mortality, great loss of quality of life or socio-economic potential for the 
individual. 
RELATED ISSUES 
29 In considering actions on rare diseases we need also to take account of other 
related areas of Community work, such as research and the development and 
marketing of orphan products, including pharmaceuticals, which are mainly 
indicated for rare diseases. Given that rare diseases involve small numbers, 
there is a need to establish a population large enough for research purposes, 
such as clinical trials. The Community can take action in this regard. 
Similarly the commercial interest for the industrial sector in developing 
medicinal products for small numbers of potential patients is limited. There is 
therefore a need to encourage investment within the context of Community 
industry policy. Actions in these areas can complement well work in the 
public health domain. 
30 Within the field of orphan medicinal products, a considerable amount of action 
has been taken at Community level. Recently, for example, the Commission 
has supported studies examining the issue with a view to formulating a 
Community policy. An expert group was convened in February 1995 
consisting of Commission officials and experts from both Member States and 
other countries to consider the findings of the studies and arrive at conclusions. 
During 1995 further consideration was given to this issue, and a Council 
Resolution on this was adopted on 20 December 1995, which invited the 
Commission to undertake further work, particularly on the development and 
marketing of orphan products. 
IV. OVERVIEW OF PUBLIC HEALTH ACTIONS IN THE 
MEMBER STATES AND INTERNATIONALLY 
CONCERNING RARE DISEASES 
MEMBER STATES 
31 A number of Member States are pursuing work with regard to information, 
detection, recognition, intervention and prevention of particular rare diseases, 
including support for patient and parent groups. For example the United 
Kingdom has established a programme on Creutzfeldt-Jakob disease; France 
0 has set up a centre of information on genetic diseases and has some well-
established centres for monitoring and surveillance of birth defects; and 
Portugal has a special interest in and is undertaking actions on paramyloidosis. 
32 On the basis of information received from the Member States it would appear 
that only a few Member States, notably'France, Sweden and Italy, which has 
set up a European School for Rare Diseases, are attempting to address rare 
diseases in a systematic way. 
INTERNATIONAL ACTIONS 
^ i 
:>:> The country that is very much in the lead on this is the United States. In 1983 
an Orphan Drug act was enacted to speed up the development and marketing 
of orphan products. Also in 1983 the National Organisation for Rare 
Disorders was set up; this brings together and assists the voluntary bodies 
which support people with rare diseases. A National Commission on Orphan 
Diseases was formed in 1985 to review national policy in this area. It reported 
in 1989. Its main recommendations were that there should be a central focal 
point to foster the development, research and marketing of orphan products. 
Furthermore an Office of Rare Diseases at the National Institutes of Health has 
been established. 
Within the context of co-operation with third countries and following the 
recent Joint EU-US Action plan, the two parties have among others pledged to 
10 
establish a task force to develop and implement an effective global warning 
system and response network for communicable diseases, including rare 
diseases, while co-operating on respective programmes on health-related 
matters and in the research field. 
V. OVERVIEW OF COMMUNITY ACTIONS RELEVANT TO 
RARE DISEASES 
COUNCIL 
34 In its Resolution of 20 December 19952 the Council and the Ministers for 
Health, meeting within the Council, invited the Commission, in close co­
operation with the competent authorities of the Member States to take stock of 
the knowledge and experience available in the Member States, the Community 
and international organisations and to look into the situation of orphan drugs in 
Europe in relation to rare diseases. 
EUROPEAN PARLIAMENT 
35 In its Resolution A4-0311/953 on the Medium-Term Social Action Programme 
1995-1997 the Parliament asked the Commission to present, under the proper 
procedures, the action programme for rare diseases foreseen in the 
Commission's framework communication on public health. 
ECONOMIC AND SOCIAL COMMITTEE 
36 In its wide-ranging Opinion of 6 July 1994 on the Commission's framework 
communication on public health it urged the Commission to adopt a broad 
approach to the subject and emphasised the importance of rare diseases. 
OJC350 30.12.95 p.3 
OJ C 032 05.02.96, p. 15-24 
11 
VI. COMMUNITY ACTION PLAN 
EUROPEAN COMMUNITY INFORMATION ON RARE DISEASES 
37 Accurate information is essential for ensuring effective interventions in rare 
diseases. The most immediate need of anyone with a rare disease is for an 
accurate diagnosis, followed closely by the need for treatment and support 
services. Once diagnosed, patients and their families are anxious to find out 
all there is to know about their disease and often become experts on it. They 
want information about the cause, prognosis, genetic basis (if any), and future 
manifestations of the disease, the availability of effective therapeutic 
interventions or, if none exists, how to cope with the disease, as well as 
information on current research. Patients want also information about support 
groups and treatment or focal centres. 
38 All these kinds of information, where they exist at all, are widely dispersed. 
Moreover, available information may relate to a disease in general or a group 
of people, but it may be specific to an individual, which will necessitate 
* appropriate safeguards for confidentiality. A further problem is that several 
different groups apart from those directly concerned in an individual case 
have a need for information at various levels of detail. These include 
physicians and researchers, governmental agencies, patient support groups and 
the pharmaceutical industry. 
39 In the Hght of the major advances being made in genetics and of the current 
difficulties in obtaining up to date information on rare diseases, set out above, 
there is a pressing need for a Community information database on rare 
diseases and for a system for gathering and disseminating data. 
40 In developing such a Community system, there must be close liaison with the 
Community's telematics programme. This might help define the technical 
requirements for the database and system and determine the most effective 
mechanisms for disseminating the information to the different interest groups 
and the relevant agencies in the Member States. A telematic network linking 
those working in the field would also provide a mechanism for the 
identification of relevant research and researchers and for the exchange of 
information. 
41 The objective of Community action could be to provide a better information 
about rare diseases especially for patients, health professionals and 
researchers. 
12 
42 The actions to be taken to achieve this objective could include: 
encouragement and support for the establishment of a European rare 
diseases database, with entries listing the disease name, synonyms, a general 
description of the disorder, symptoms, causes, diagnostic tests available, 
affected population, standard treatments, investigational treatments (when 
available) and a list of resources that can be contacted for further information 
about the condition; 
promoting access to information and co-ordinating existing information 
systems and services by supporting the setting up and strengthening of 
networks at local, regional, national and community level; and 
organising consensus meetings among health professionals in order to 
improve the early detection, recognition, intervention and prevention of rare 
diseases. 
PATIENT AND FAMILY SUPPORT GROUPS 
43 These organisations have a wide-ranging role. They support the collection, 
dissemination and exchange of knowledge and experiences, foster public 
awareness and stimulate research and raise ethical issues. They also provide 
counselling for individuals and ensure that patients' interests are safeguarded, 
for example in terms of confidentially and informed consent to clinical 
procedures. There is a need to promote the development of these patient 
support groups so that all areas of the Commumty are properly covered and to 
encourage their co-operation at regional, national and European level. There 
is also a need to estabhsh one or more umbrella organisations at Community 
level which can undertake a clearinghouse, linking and support role. There are 
already some organisations, such as the European Alliance of Genetic Support 
Groups (EAGS), that might be able to develop their activities in this way. 
44 One of the objectives of Community action could be to estabhsh, foster and 
strengthen voluntary organisations involved in supporting people directly or 
indirectly affected by rare diseases, such as various neurodegenerative 
conditions. 
13 
45 The actions to be taken to achieve this objective could include: 
promoting the establishment of groups of those persons with the same 
rare conditions or those professionally involved in order to disseminate their 
experiehce, to facilitate training and to co-ordinate their activities at national 
and Community level; 
promoting the groups' collaboration and networking and the setting up 
and fostering of umbrella bodies, focusing particularly on efforts to encourage 
the continuity of work and cross-national co-operation. 
HANDLING OF RARE DISEASES CLUSTERS 
46 Handling clusters of cases effectively involves analysing, assessing and 
managing the problem and communicating clearly to the public. Such action is 
both necessary and difficult. The necessity is clear since any local factor 
which might have been the causative or contributing agent has to be identified. 
But it is also difficult because there are many reasons for a cluster to be 
identified, and all possibilities need to be considered and investigated before a 
particular causal association is proposed. However, clusters occur only rarely 
in any particular region. This means that there is little opportunity for those 
involved in an individual case to gain the necessary experience. 
47 In this situation there would be value in estabhshing within the Community 
'Rare Disease Cluster Response Teams', involving those with appropriate 
expertise which would be available to give assistance to the local authorities 
concerned. The experience gained recently with Creutzfeldt Jacob disease 
indicates the need for such an approach enabling the best use to be made of 
scarce expertise in risk assessment and management. 
48 In the case of clusters of rare diseases there is a need for the creation of 
networks of focal points for particular rare diseases or groups of related 
diseases, which would help in providing early warnings of potential problems, 
co-ordinating the investigation of clusters and provide relevant information, for 
example on expected prevalence levels, to the response teams. These focal 
points will need a high level of expertise in epidemiology and statistics, and 
the epidemiological information that is available on low-prevalence diseases 
from monitoring and surveillance programmes, both those at Community level 
and those undertaken nationally and regionally. 
14 
49 As mentioned above, epidemiological data for rare diseases are not currently 
comprehensive. Such data depend on effective monitoring and surveillance 
programmes. The majority of rare diseases are congenital disorders, and in 
this area a monitoring and surveillance programme has been set up: 
EUROCAT (European Registration of Congenital Anomalies). This is a 
concerted action with mainly participants from the Member States who locally 
and sometimes regionally study a population and investigate the number, type 
and possible causes of birth defects in order to pre^nt these congenital 
malformations. The Commission contributes financially to EUROCAT. 
Other birth defects monitoring programmes exist in the Member States, and 
collaboration with these programmes and with programmes that monitor other 
(groups of rare diseases) is necessary to permit an optimal use and analysis of 
the available data. 
50 The objective of Community action would be to ensure an efficient handling of 
the problem of clusters, which is of key importance for rare diseases. 
51 The actions to be taken to achieve this objective could include: 
supporting the monitoring (sentinel) of rare diseases, including birth 
defects, genetic disorders or diseases of different organ systems and the 
appropriate techniques for low-prevalence diseases, in order to meet on the 
one hand the demands of detection, treatment and research and on the other 
hand the demands of relevant statistical monitoring ; 
promoting the creation of rare diseases response teams and of 
specialised training courses for those investigating clusters ; 
estabhshing surveillance systems and detecting timely possible clusters; 
and 
encouraging the exchange of expertise in the evaluation, assessment, 
communication and management of clusters of rare diseases that are 
associated with exogenic causes. 
ORPHAN PRODUCTS 
52 In the context of the Community's work on the control and authorisation of 
pharmaceutical products, a legislative proposal is being prepared which has the 
aim of providing a legal framework for 'orphan medicinal products'. This will 
cover the following areas: designation of orphan medicinal products; support 
of research; market access; and monitoring, including pharmacovigilance. 
15 
As part of this proposal, the Commission intends to propose a definition for 
such products, along the following lines: any substance or combination of 
substances presented as proprietary medicinal product which is: 
used for the treatment, prevention or diagnosis of a life-threatening or 
chronically debilitating disease in human beings, 
where that disease indication affects not more than 5 per 10,000 people 
in the European Community, and 
where the commercial return is insufficient. 
16 
EUROPEAN COMMUNITY RESEARCH ON RARE DISEASES AND 
ORPHAN PRODUCTS 
53 The Fourth Framework Programme (1994 - 1998) for Research and 
Technological Development4 namely the Biomedecine and Health programme 
(Biomed2), area 1 "Pharmaceutical research" and area 4.6 "Research on rare 
diseases" covers the research activities on the development of orphan drugs 
and supports the basic and clinical research on rare diseases 
54 Under the area of "Rare Diseases" the research tasks include the definition of 
diagnostic criteria, causes, genetic aspects, and methods of prevention, with 
emphasis on the establishment of European epidemiological observatories, 
information networks, and registries of patients with rare diseases in order to 
increase information available on rare diseases. 
55 Under the area of "Pharmaceutical research" the aim is to support research on 
the treatment of rare diseases, including methodologies for fast-track schemes 
in the development of orphan drugs and repositories of available orphan drugs 
in Europe. 
VII. CONSULTATION, ASSESSMENT AND REPORTS 
CONSULTATION 
56 The actions of this programme will be implemented in close collaboration with 
the Member States, particularly as regards co-ordination of their policies and 
programmes. To facilitate this, the Commission proposes the creation of an 
Advisory Committee of representatives of the Member States. Appropriate 
links will also be maintained with the WHO, other relevant international 
organisations and third countries in accordance with the requirements of the 
programme's actions. 
EVALUATION REPORTS 
5 7 Assessment of the programme will be provided in two reports : 
a mid-term report to the Council, the European Parliament, the 
Economic and Social Committee, and the Committee of the Regions. The 
4 Decision 94/1110/EC of 26..04.1994, OJL126, 18.05.94, p.l, as amended by Decision 96/616/EC of 
25.03.1996, OJL86, 04.04.96, p.69 
17 
purpose of the mid-term report is to ensure that the Commumty Institutions 
and, through them, all the parties concerned, are kept fully informed on the 
progress of the actions undertaken. It will include information on the projects 
supported under the different actions. 
a final report on the implementation of the programme, which will 
include an evaluation of the actions undertaken, will be submitted to the 
above-mentioned institutions by the Commission after the completion of the 
programme. 
GENERAL INFORMATION ACTIVITIES 
58 The Commission will ensure that reports on the activities undertaken are made 
available to concerned parties and the general pubhc. 
59 Future Community pubhc health action on rare diseases must take account of 
the existing large body of work, in particular that undertaken under Articles 
129 and 130f of the EC Treaty. In accordance with Article 129 of the Treaty, 
the Community shall contribute towards ensuring a high level of human health 
protection by encouraging co-operation between Member States, lending 
support to their actions and promoting, in close contact with them, co­
ordination of their policies and programmes, and fostering co-operation with 
third countries and international orgamsations competent in the sphere of 
pubhc health. 
18 
Proposal for a 
EUROPEAN PARLIAMENT AND COUNCIL DECISION 
adopting a programme of Community action 1999-2003 on rare diseases 
in the context of the framework for action in the field of public health 
H 
EXPLANATORY MEMORANDUM 
1 In its Communication COM(93) 559 final of 24 November 1993 on the 
framework for action in the field of pubhc health, the Commission outlined the 
principles and strategy to be followed in undertaking Community activities 
directed towards the attainment of the objectives on health protection laid 
down in Articles 3(o) and 129 of the Treaty estabhshing the European 
Community. 
2 The role of the Community is identified as underpinning the efforts of the 
Member States in the pubhc health field, assisting in the formulation and 
implementation of objectives and strategies, and contributing to the provision 
of health protection across the Community, setting as the target the best results 
already obtained in a given area anywhere in the Commumty. 
3 In accordance with Article 129, the Commission presents proposals for the 
adoption by the European Parliament and the Council of incentive measures 
intended to contribute towards ensuring a high-level of human health 
protection. 
4 The aforementioned Commission communication sets out criteria on which to 
determine priority areas for Community, action programmes. In accordance 
with these criteria, rare diseases were identified as such a priority area. 
5 The present Commission proposal, based on Article 129 and already 
announced in the Commission programme of work for 1996, comes under the 
principle of shared competence between the Community and the Member 
States, and seeks to improve information on rare diseases, support for patient 
groups and risk analysis and risk management in case of clusters of rare 
diseases. This Community action will follow the principles of subsidiarity and 
proportionality. 
6 According to the principle of subsidiarity, action on matters not under the 
exclusive competence of the Community, such as action on rare diseases, must 
be undertaken by the Community only if and in so far as, by reason of its scale 
or effects, it may be better achieved at Community level. 
7 Rare diseases are those diseases with a generally-accepted prevalence in the 
total Community population of less than 5 per 10,000. The diseases to be 
2C 
specifically addressed by this programme will be those where special 
combined efforts are needed to ensure that there is no significant prenatal and 
premature morbidity or mortality, great loss of quality of life or socio­
economic potential for the individual. 
8 The proposed 5-year action programme seeks to complement ongoing work in 
the Member States by actions addressed to the pubhc, health professionals, 
and the authorities. 
9 With the limited resources available it would be impractical for a Community 
pubhc health programme to address all the approximately 5,000 rare diseases 
and all aspects of rare diseases. 
10 In selecting objectives and defining actions to be included in the programme, 
account has been taken of the situation currently existing in the Member States 
and at Community level in the field covered by the programme. The 
programme aims at bringing about an accelerated and effective sharing of 
information, support for patient groups and umbrella orgamsations, and the 
efficient establishment of cluster response teams, and increased co-operation 
of Member States. This will avoid unnecessary duplication of work and speed 
up the adoption of the best solution to problems common to all the Member 
States concerning such diseases. 
11 Finally, the criterion of providing added value at Community level has a 
particular relevance to rare diseases, all of the activities involved being of such 
unique scale and effect as to provide added value to all Member States. 
12 This programme is undertaken on the basis of a European Parhament and 
Council decision pursuant to Article 129. It does not come under the 
exclusive competence of the Community, and does not require the 
harmonisation of national provisions in the field covered. 
13 An evaluation of the actions implemented under the programme will be 
provided in two reports: a mid-term report reviewing progress and a final 
report on the implementation of the programme. These reports will 
incorporate information on Community financing in the various fields of 
action as well as the results of evaluations. They will be transmitted to the 
Council and the European Parliament, as well as to the Economic and 
Social Committee and the Committee of the Regions. 
a\ 
Proposal for a 
EUROPEAN PARLIAMENT AND COUNCIL DECISION 
adopting a programme of Community action 1999-2003 on rare diseases 
in the context of the framework for action in the field of public health 
THE EUROPEAN PARLIAMENT AND THE COUNCIL OF THE EUROPEAN 
UNION 
Having regard to the Treaty estabhshing the European Community, and in particular 
Article 129 thereof, 
Having regard to the proposal from the Commission,1 
Having regard to the opinion of the Economic and Social Committee,2 
Having regard to the opinion of the Committee of the Regions,3 
Acting in accordance with the procedure referred to in Article 189b of the Treaty, 
1. Whereas, the very fact of the rareness of the low-prevalence diseases and 
conditions and the consequent lack of information about them can lead to 
people affected by these conditions not receiving the health resources and 
services they need; 
2. Whereas, for the purposes of this programme rare diseases will be defined as 
life-threatening or chronically debilitating diseases which are of such low 
prevalence that special combined efforts are needed to address them;. 
3. Whereas, in accordance with point (o) of Article 3 of the Treaty, Community 
action shall include contribution towards the attainment of a high level of 
health protection; 
4. Whereas Article 129 expressly provides for Community competence in this 
field in so far as the Community contributes to it by encouraging co-operation 
1 OJ -n° 
2 OJ n° 
3 OJ n° 
11 
between the Member States and, if necessary, lending support to their action; 
promoting co-ordination of their policies and programmes, and fostering co­
operation with third countries and international orgamsations competent in the 
sphere of pubhc health; whereas Community action should be directed 
towards the prevention of diseases, and the promotion of health education and 
information; 
5. Whereas rare diseases have been identified as a priority area for Community 
action within the framework for action in the field of pubhc health4; 
6. Whereas in its Resolution (A4-0311/95) on the Medium-Term Social Action 
Programme 1995-19975 the Parhament asked the Commission to present, 
under the proper procedures, the action programme for rare diseases foreseen 
in the Commission's framework communication on pubhc health; 
7. Whereas, in accordance with the principle of subsidiarity, action on matters 
not under the exclusive competence of the Community, such as action on rare 
diseases, must be undertaken by the Community only if and in so far as, by 
reason of its scale or effects, it may be better achieved at Community level; 
8. Whereas, the Commumty can provide added value to the actions of Member 
States concerning rare diseases, through the co-ordination of national 
measures, the dissemination of information and experiences, the joint 
establishment of priorities, the development of networking as appropriate, 
selection of European Community-wide projects and the motivation and 
mobilisation of all involved; 
9. Whereas co-operation with the international organisations competent in the 
field of pubhc health and with third countries should be fostered; 
10. Whereas, by providing support for acquiring better knowledge and 
understanding of, and wider dissemination of information about rare diseases 
and by developing actions complementary to existing Community programmes 
and actions, while avoiding unnecessary duplication, the programme will 
contribute to the achievement of the Community objectives set out in Article 
129; 
11. Whereas, in order to increase the value and impact of the programme, a 
continuous assessment of the actions undertaken should be carried out, with 
COM (93) 559 final 
OJN°C32 05.02.96, p. 15-24 
/3> 
particular regard to their effectiveness and the achievement of the objectives 
set and, with a view where appropriate, to making the necessary adjustments; 
12. Whereas this programme should be of five-year duration in order to allow 
sufficient time for actions to be implemented to achieve the objectives set; 
13. Whereas the introduction of specific Community arrangements will help to 
ensure that all Member States are swiftly informed in the event of an 
emergency situation, so that the protection of the population can be ensured; 
14. Whereas these Community arrangements for the rapid exchange of 
information do not affect the Member States' rights and obligations under 
Treaties or bilateral and multilateral conventions; 
15. Whereas an agreement on a modus vivendi between the European Parhament, 
the Council and the Commission concerning measures for the implementation 
of acts adopted under the procedure laid down in Article 189b of the Treaty 
was reached on 20 December 1994. 
16. Whereas this decision lays down, a financial framework constituting the 
principal point of reference, within the meaning of point 1 of the Declaration 
of the European Parhament, the Council and the Commission of 6 March 
1995, for the budgetary authority during the annual budgetary procedure; 
17. Whereas the Community's financial perspective is valid up until 1999 and 
will have to be revised for the period beyond that date; 
18. Whereas the financial framework for the last four years of the programme 
(2000-2003) shall be determined after the establishment of the future financial 
perspectives; 
^ 
HAVE DECIDED AS FOLLOWS: 
Article 1 
Establishment of the programme 
1. A programme of Commumty action on rare diseases hereinafter referred to as 
"this programme", is hereby adopted for the period 1 January 1999 to 31 
December 2003 in the context of the framework for action in the field of 
pubhc health. 
2. The aim of this programme is to contribute towards ensuring a high level of 
health protection in relation to rare diseases by providing knowledge about 
these diseases by promoting and strengthening patient support groups and by 
fostering the setting up of cluster response teams. 
3. The actions to be implemented under this programme and their specific 
objectives are set out in the Annex under the headings: 
1) Actions on Community information on rare diseases-
2) Actions in support of patient and family support groups 
3) Actions on handling rare diseases clusters 
Article 2 
Implementation 
1. The Commission shall ensure implementation, in close co-operation vvitli the 
Member States, of the actions set out in the Annex. 
2. The Commission shall co-operate with institutions and organisations active in 
the field of rare diseases. 
2s 
Article 3 
Budget 
1. The financial framework for the implementation of the programme for the 
year 1999 shall be ECU 1,3 Million, in keeping with current financial 
perspectives.The financial framework for the final four years of the 
programme (2000-2003) shall be determined in detail after the 
establishment of the future financial perspectives. 
2. The annual appropriations shall be established by the Budgetary Authority in 
accordance with the financial perspectives. 
Article 4 
Consistency and complementarity 
The Commission shall ensure that there is consistency and complementarity between 
the Community actions to be implemented under this programme and those 
implemented under other relevant Community programmes and actions. 
Article 5 
Committee 
1. In implementing this action plan, the Commission shall be assisted by an advisory committee, 
hereinafter referred to as "the Committee", consisting of two representatives from each 
Member State, and chaired by the Commission representative. 
The representative of the Commission shall submit to the Committee a draft of 
the measures to be taken concerning, in particular: 
(a) the criteria, and procedures for selecting and financing projects 
under this programme; 
(b) the evaluation procedure. 
The Committee shall deliver its opinion on the draft, within a time limit which 
the chairperson may lay down according to the urgency of the matter, if 
necessary by taking a vote. 
2U 
The opinion shall be recorded in the minutes; in addition, each Member State 
shall have the right to ask to have its position recorded in the minutes. 
The Commission shall take the utmost account of the opinion delivered by the 
Committee. It shall inform the Committee on the manner in which its opinion 
has been taken into account. 
The representative of the Commission shall keep the Committee regularly 
informed about Commission proposals or Community initiatives and the 
implementation of programmes in other pohcy areas which are relevant to the 
achievement of the objectives of this programme. 
Article 6 
International co-operation 
1. In the course of implementing this programme, co-operation with third 
countries and with international organisations competent in the field of pubhc 
health shall be fostered. 
2. This programme shall be open to participation by the associated countries of 
Central Europe (CEC), in accordance with the conditions laid down in the 
Association Agreements or Additional Protocols related thereto concerning 
participation in Community programmes. This programme shall be open to 
participation by Cyprus and Malta on the basis of additional appropriations in 
accordance with the same rules as those apphed to the EFTA countries, in 
accordance with procedures to be agreed with those countries. 
Article 7 
Monitoring and evaluation 
1 In the implementation of this Decision, the Commission shall take 
the necessary measures to ensure the monitoring and continuous 
evaluation of the programme taking account of the general and 
specific objectives referred to in Article 1 and in the Annex. 
2> 
During the third year of this programme, the Commission shall 
present to the European Parliament and to the Council an evaluation 
report 
The Commission shall submit to the European Parliament and the 
Council a final report on completion of this programme. 
The Commission shall incorporate into these two reports information 
on Community financing in the various fields of action and on 
complementarity with the other actions referred to in Article 4, as 
well as the results of the evaluations. It shall also send them to the 
Economic and Social Committee and the Committee of the Regions. 
Done at Brussels, 
For the European Parhament For the Council 
The President The President. 
«=) S 
ANNEX 
SPECIFIC OBJECTIVES AND ACTIONS 
I. ACTIONS ON COMMUNITY INFORMATION ON RARE 
DISEASES 
Objective: to provide knowledge about rare diseases especially for patients, health 
professionals and researchers. 
1. Encouragement and support for the establishment of a European rare diseases 
database, with entries listing the disease name, synonyms, a general 
description of the disorder, symptoms, causes, affected population, standard 
treatments, investigational treatments (when available) and a list of resources 
that can be contacted for further information about the condition. 
2. Promoting access to information and co-ordinating existing information 
systems and services by supporting the setting up and strengthening of 
networks at local, regional, national and community level. 
3. Organising consensus meetings among health professionals in order to improve 
the early detection, recognition, intervention and prevention of rare diseases. 
II. ACTIONS IN SUPPORT OF PATIENT AND FAMILY 
SUPPORT GROUPS 
Objective: to estabhsh, foster and strengthen voluntary organisations involved 
supporting people directly or indirectly affected by rare diseases. in 
4. Promoting the establishment of groups of persons with the same rare 
conditions or those professionally involved in order to disseminate their 
experience, to facilitate training and to co-ordinate their activities at national 
and Community level. 
n 
Promoting the groups' collaboration and networking and the setting up and 
fostering of umbrella bodies, focusing particularly on efforts to encourage the 
continuity of work and cross-national co-operation. 
III. ACTIONS ON HANDLING RARE DISEASES CLUSTERS 
Objective: to ensure an efficient handling of the problem of clusters, which is of 
key importance for rare diseases. 
6. Supporting the monitoring (sentinel) of rare diseases, including birth defects, 
genetic disorders or diseases of different organ systems and the appropriate 
techniques for low-prevalence diseases, in order to meet on the one hand the 
demands of detection, treatment and research and on the other hand the 
demands of relevant statistical monitoring. 
7. Promoting the creation of rare diseases response teams and of specialised 
training courses for those investigating clusters. 
8. Supporting surveillance and early warning systems for clusters. 
9. Encouraging the exchange of expertise in the evaluation, assessment, 
communication and management of clusters of rare diseases that are associated 
with exogenic causes. 
FINANCIAL STATEMENT 
1 TITLE OF OPERATION 
Proposal for a European Parhament and Council Decision adopting a programme of 
Community action on rare diseases in the context of the framework for action in the 
field of pubhc health 
2 BUDGET HEADING INVOLVED 
. B3-..... 
3 LEGAL BASIS 
Article 3(o) and Article 129 of the Treaty estabhshing the European Community. 
4 DESCRIPTION OF OPERATION 
4.1 General objective 
To contribute to achieving the objectives laid down by the Treaty: 
under Article 3 (o), the Commumty is required to make a contribution to the 
attainment of a high level of health protection; 
Article 129 requires the Community to contribute towards ensuring a high-
level of human health protection, in particular by encouraging co-operation between 
the Member States, and if necessary lending support to their action, promoting co­
ordination of their pohcies and programmes, and fostering co-operation with third 
countries and the competent international organisations in the sphere of public health. 
Community action is directed towards the prevention of diseases, in particular major 
health scourges, by promoting research into their causes and their transmission, as 
well as health information and education. 
The general objective of the action programme is to contribute towards ensuring a 
high level of health protection on rare diseases. 
The method for achieving this objective consists of undertaking actions which: 
31 
provide the opportunity to undertake a much wider range of interventions and 
to initiate co-ordinated actions with patients who might otherwise be isolated or 
incorrectly diagnosed. 
provide information on rare diseases 
strengthen the organisation and setting up of patient and family support groups 
enforce the setting up of response teams involved in handling clusters of rare 
diseases. 
4.2 Period covered and arrangements for renewal or extension 
5 years: 01.01.1999 to 31.12.2003 
Report on implementation to be transmitted to the Council and European 
Parliament during the third year of the programme 
Report to the Council and European Parhament after completion of the 
programme together with the results of evaluations. 
5 CLASSIFICATION OF EXPENDITURE OR REVENUE 
Non-compulsory expenditure 
Differentiated appropriations 
6 TYPE OF EXPENDITURE OR REVENUE 
Subsidy for joint financing with other sources in the pubhc and/or private sector (not 
exceeding a certain percentage of the total cost of the proposed projects). 
The level of funding granted depends on the scope of the measure to be financed and 
on the extent to which the action programme is reflected in the various activities 
planned. Such funding will not exceed 70% of the total budget earmarked for the 
proposed projects except in the case of networks and work ordered and of direct use 
to the Commission, where the subsidy may amount to 100% . 
32 
7 FINANCIAL IMPACT 
7.1 Method of calculating the total cost of operation (definition of unit cost) 
The method of calculation is the result of experience acquired in previous activities related to 
environmental health. This encompasses the various types of Community action listed in Table 4 
of Commission Communication COM(93) 559 final of 24 November 1993, and represents 10 
years of know-how in financing cooperative efforts with the Member States and NGO's of 
collection, analysis and dissemination of information, setting up of networks, survey of the 
quality of campaigns such as European weeks, establishment of mechanisms and procedures of 
consultation and cooperation for setting common objectives and for policy coordination and 
for the formulation and development of strategies at the Community level. The specific cost 
estimates are based on the assumption that half of the activities to be undertaken under this 
programme will require 100 percent funding while the other half will require 50 percent funding and 
that the activities to be undertaken will involve most or all of the Member States. An amount of 
ECU 1.3 million is deemed necessary for the implementation of these activities for the year 
1999. The new budget framework for the final four years will be established in the year 2000 
taking into account the future Community's financial perspectives. The annual allocations will 
be decided in accordance with the normal budgetary procedures. 
7.1.1 Data base about rare disease for patients, health professionnals and researchers 
Establishment of european rare diseases.data base, with entries listing the disease name, 
synonyms, a general description of the disorder, symptoms, causes, affected population, 
standard treatments, investigational treatments (when available) and a list of resources that 
can be contacted for further information about the condition. The setting up of this data 
base in 1999 is calculated as 600.000 Ecus. 
Organising consensus meetings on rare diseases among health professionals in 1999 will 
cost 100.000 Ecus. 
7.1.2 Establishment of voluntary organisations on rare diseases 
Meetings in order to promote the establishment of voluntary organisations involved in 
supporting people affected by rare diseases in 1999 : 200.000 Ecus. 
7.1t3 Efficient handling of clusters of rare diseases 
Setting up monitoring facilities of (sentinel) rare diseases will cost 300.000 Ecus in 1999. 
The creation of rare diseases "response teams" and setting up training courses to investigate 
clusters will cost 100.000 Ecus in 1999. 
3i | H 
7.2 Itemised breakdown of cost (in ECU million) - indicative programming 
OBJECTIVE 
To provide knowledge 
about rare diseases 
especially for patients, 
health professionals and 
researchers ACTION AREA 
Encouragement and support for the establishment 
of a European rare diseases database, with entries 
listing the disease name, synonyms, a general 
description of the disorder, symptoms, causes, 
affected population, standard treatments, 
investigational treatments (when available) and a 
list of resources that can be contacted for further 
information about the condition. 
Promoting access to information and co-ordinating 
existing information systems and services by 
supporting the setting up and strengthening of 
networks at local, regional, national and 
community level. 
Organising consensus meetings among health 
professionals in order to improve the early 
detection, recognition, intervention and prevention 
of rare diseases. YEARS 
1999 
0.6 
-
01 2000 
-
-
-2001 
-
-
-2002 
-
-
-2003 
-
-
-TOTAL 
0.6 
0.1 
35 
OBJECTIVE 
To establish, foster and 
strengthen voluntary 
organisations involved in 
| supporting people 
directly and indirectly 
affected by rare diseases. ACTION AREA 
Promoting the establishment of groups of those 
persons with the same rare conditions or those 
professionally involved in order to disseminate 
their experience, to facilitate training and to co­
ordinate their activities at national and Community 
level. 
Promoting the groups' collaboration and 
networking and the setting up and fostering of 
umbrella bodies, focusing particularly on efforts to 
promote the continuity of work and cross-national. 
co-operation. YEARS 
1999 
-
0.2 2000 
-
-2001 
-
-2002 
-
-2003 
-
-TOTAL 
-
0.2 
:s6 
i! 
OBJECTIVE 
To ensure an efficient 
handling of the problem 
of clusters, which is of 
key importance for rare 
diseases. ACTION AREA 
Supporting the monitoring (sentinel) of rare 
diseases, including birth defects, genetic disorders 
or diseases of different organ systems and the 
appropriate techniques for low-prevalence diseases, 
in order to meet on the one hand the demands of 
detection, treatment and research and on the other 
hand the demands of relevant statistical monitoring 
Promoting the creation of rare diseases response 
teams and of specialised training courses for those 
investigating clusters. 
Supporting surveillance and early warning systems 
for clusters. 
Encouraging the exchange of expertise in the 
evaluation, assessment, communication and 
management of clusters of rare diseases that are 
associated with exogenic causes. 
TOTAL YEARS 
1999 
0.3 
0.1 
1.3 2000 
-
_ 
-
p.m. 2001 
-
_ 
-
p.m. 2002 
-
_ 
-
p.m. 2003 
-
_ 
-
p.m. TOTAL 
0.3 
0.1 
-
1.3 
37 
7.3 Indicative schedule of appropriations (in ECU million) 
Commitment 
appropriations 
Payment 
appropriations 
1999 
2000 
2001 
2002 
2003 
Subsequent 
years 
TOTAL 1999 
1.3 
0.78 
0.52 
1.3 2000 
p.m. 2001 
p.m. 2002 
p.m. 2003 
p.m. TOTAL 
1.3 
0.78 
0.52 
1.3 
8 FRAUD PREVENTION MEASURES; RESULTS OF MEASURES 
TAKEN 
The grant application forms will require information on the identity and nature of 
potential beneficiaries so that their reliability can be assessed in advance. 
38 
Fraud prevention measures (checks, intermediate reports, final report) are 
included in the agreements or contracts between the Commission and 
beneficiaries. The Commission will check reports and ensure that work has been 
properly carried out before intermediate and final payments are made. 
In addition, spot checks are carried out by the Commission to verify how funds 
have been used. Checks have already been carried out in other public health 
budget lines in relation to the financial years 1991 to 1995 and have shown their 
effectiveness. 
9 ELEMENTS OF COST-EFFECTIVENESS ANALYSIS 
9.1 Specific and quantifiable objectives 
The Community measures aim at contributing towards ensuring a high level of 
health protection on rare diseases by providing knowledge about rare diseases 
especially for patients, health professionals and researchers, and to establish, 
foster and strengthen voluntary organisations involved in supporting people 
directly and indirectly affected by rare diseases, and by ensuring an efficient 
handling of the problem of clusters, which is of key importance for rare diseases . 
by the accomplishment of the following specific objectives: 
The indicators showing whether or not these objectives are achieved will include 
measures of the following kinds: 
dissemination of information on rare diseases to patients, health 
professionals and researchers; 
establishment of a European rare diseases data base; 
availability of consensus documents about the detection, recognition, 
intervention and prevention of rare diseases; 
presence and functioning of local, regional, national and Commumty 
patient organisations active in the field of rare diseases; 
presence of umbrella bodies at Community level for the promotion of 
collaboration on different rare diseases; 
existence of rare diseases response teams and of specialised trading, 
surveillance, early warning systems related to clusters of rare diseases. 
Target Population 
39 
1. Competent health authorities of the Member States, at national, regional 
and local level and competent international organisations in the sphere of 
public health; 
2. Patient support groups, health professionals, health and medical 
associations, academic institutions etc.; 
3. NGO's and other bodies interested in health matters, and the public in 
general. 
9.2 Grounds for the operation 
In initiating action under Article 129, the Commumty has to address itself to 
preventing diseases and protecting health. The Commission's communication on 
the framework for action in the field for public health1 sets out criteria on which 
to determine priority areas for Community programmes. In accordance with these 
criteria the framework Communication evaluated the different options for 
addressing diseases, in particular major scourges and their underlying causes, by 
various types of community actions and retained on the basis of criteria listed in 
that communication, eight priority areas of which rare diseases was one. 
For the purposes of this programme rare diseases are defined as life-threatening 
or chronically debilitating diseases which are of such low prevalence that special 
combined efforts are needed as shown on the basis of an ex-ante evaluation . 
The programme aims at bringing about an accelerated and effective sharing of 
information and experience, Community wide understanding of key issues and 
questions on tackling rare diseases, and increased co-operation of Member States 
so as to avoid unnecessary duplication of work and speed up the adoption of best 
solution to problems common to Member States concerning such diseases. This 
input envisaged for the Community and the Commission by Article 129 of the 
Treaty provides a clear common framework of rules. 
As regards the intervention methods and the allocation of funds, the following 
will apply: 
specific application of the principle of subsidiarity when identifying 
measures to be undertaken and co-financed; 
identification and selection of projects for co-financing in the fields of rare 
diseases 
COM(93) 559 final of 23.11.93 
40 
the concept of added Commumty value, which will continue to be realised 
in particular through the co-ordination of national measures, the 
dissemination of information and experiences, the establishment of 
priorities, the development of networking as appropriate, selection of 
European projects and the motivation and mobilisation of all involved. 
Two methods will be employed to implement the programme. One is to support 
projects carried out in Member States and at the Community level. The selection 
of priority projects is based largely on general and intermediate objectives, and 
implementation of the measures themselves depends on the quality and 
effectiveness of projects submitted to the competent department during the course 
of the year. The other is to undertake specific activities necessary to achieve the 
objectives of the programme, which will be fully financed by the programme. 
The selection criteria for projects are as follows: 
Compatibility with the objectives and conformity with at least one of the 
established objectives; 
Examination of the "added Community value" of the projects (transnational 
participation, development of a model applicable in other Member States, 
information usable in other Member States, etc.); 
Presumed effectiveness and profitability; 
Clarity and justification of requirements; 
Relevance of selected methodology; 
Organisational competence and experience; 
Suitability of budget for objectives; 
Support for projects from national partners; 
Objective assessment; 
Opinion of the advisory committee involved. 
The budget proposed of 1.3 MECU for the first year of this programme matches 
that proposed at the same time for the Community action programmes on injury 
prevention and pollution-related diseases. This reflects the equal priority attached 
to these fields for action determined by the Commission communication on the 
framework for action in the field of public health (1993), an evaluation which 
remains valid today. The amount proposed represents the bare minimum required 
to start the programme. 
9.3 Monitoring and evaluation of the operation 
41 
9.3.1 Monitoring of the operation 
Monitoring at the Community level is to be carried out by the Commission, which 
will submit a report half-way through the implementation of the programme, and a 
final report after its completion to the Council, the European Parliament, the 
Economic and Social Committee, and the Committee of the Regions, drawing 
from national reports as well as evaluations of the actions under the programme 
and of individuals projects. 
9.3.2 Evaluation 
Evaluation will be by means of: 
An evaluation of the main measures and of subsidised projects involving, 
where necessary, the participation of independent experts; 
An evaluation report during the third year; 
An overall report on the quality and effectiveness of projects implemented 
under the action plan, to be submitted by the Commission to the other 
Commumty institutions after completion of the programme. 
Performance indicators selected for this evaluation: 
Evaluation of projects by Commission officials and/or those co-operating 
with them; 
Analysis of intermediate reports on measures scheduled and financed, 
allowing a shifting of emphasis where possible; 
Impact studies by external bodies 
Relevance of the methodology used by organisers; 
Suitability of the budget for the objectives; 
Skills and experience of bodies; 
Dissemination of results; 
Evaluation procedures and intervals: 
Drawing up of intermediate and final reports on the various measures 
undertaken in the field; 
Development of a "standard" evaluation form for the measure, to be 
forwarded by the beneficiaries with their final reports, and checking of 
these documents by officials either at the Commission or in the field. 
42 
10 ADMINISTRATIVE EXPENDITURE (PART A OF THE BUDGET) 
Actual mobilisation of the necessary administrative resources will be conditioned by the 
Commission's annual decision on the allocation of resources, having regard in particular to 
additional staff and funds provided by the budgetary authority. 
10.1 Impact on the number of employees 
Types of employees 
Officials or 
temporary 
agents A 
B 
C 
Other resources 
Total staff carrying out action 
permanent 
employees 
1 
1 
1 
3 temporary 
employees 
0 
0 
0 
0 source of em 
from within DG 
or service 
1 
1 
1 
3 Dloyee 
supplem 
entary 
staff 
0 
0 
0 
0 duration 
10.2 Financial impact of supplementary staff 
10.3 Increase in other running costs arising from the action 
Budget line Amounts Method of calculation 
Meetings 104,250 ECU's 2 meetings of advisory committee/year, ' 
A2510 1 representative/Member State = 
2 meetings/year x 15 representatives x 695 
ECU/representatives x 5 years = 104,250 
ECU'S 
4-3 
The resources necessary to cover the expenditure below for the 5-year period will be obtained by re­
deployment of existing financial resources and the use of supplementary resources will not be 
required. 
a) Personnel Expenses (Title Al, A2 and A5) 
3 x 100,000 ECU'S x 5 years = 1,500,000 ECU's 
b) Operational Expenses 
Expenses for meetings (A-250) 
2 meetings/year x 15 experts x 825 ECU's/expert x 5 years = 123,750 ECU's 
Expenses for travel (A-130) 
24 missions/year Brussels-Luxembourg x 200 ECU's/mission x 5 years = 
24,000 ECU'S 
60 missions/year to Member States x 1000 ECU's/mission x 5 years = 
300,000 ECU's 
c) Total: 1,947,750 ECU's 
44-


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COM(97) 225 final 
DOCUMENTS 
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Catalogue number : CB-CO-97-217-EN-C 
ISBN 92-78-19712-2 
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