TEXT PROPOSED BY THE COMMISSION AMENDMENT

Amendment 1

Proposal for a recommendation Recital 1

(1) Rare diseases are a threat to the health of European citizens insofar as they are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. (1) Rare diseases are a threat to the health of European citizens insofar as they are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity , but since there are so many different types of rare disease, the total number of people affected is quite high .

Amendment 2

Proposal for a recommendation Recital 2

(2) A Community Action Programme on Rare Diseases, including genetic diseases, was adopted for the period 1 January 1999 to 31 December 2003. This programme defined the prevalence for a rare disease as affecting no more than 5 per 10 000 persons in the European Union. (2) A Community Action Programme on Rare Diseases, including genetic diseases, was adopted for the period 1 January 1999 to 31 December 2003. This programme defined the prevalence for a rare disease as affecting no more than 5 per 10 000 persons in the European Union , a number to be judged on a statistical basis subject to a scientific review .

Amendment 3

Proposal for a recommendation Recital 2 a (new)

(2a) Based on this statistical incidence, rare diseases should be meticulously catalogued and reviewed regularly by a scientific committee to determine the need for possible additions.

Amendment 4

Proposal for a recommendation Recital 4

(4) It is estimated that between 5 000 and 8 000 distinct rare diseases exist today, affecting between 6 % and 8 % of the population in the course of their lives. In other words, between 27 and 36 million people in the European Union. Most of them suffer from less frequently-occurring diseases affecting one in 100 000 people or less. (4) It is estimated that between 5 000 and 8 000 distinct rare diseases exist today, affecting between 6 % and 8 % of the population in the course of their lives. In other words, although rare diseases are characterised by low prevalence for each one of them, the total number of people affected is quite high, ranging between 27 and 36 million people in the European Union. Most of them suffer from less frequently-occurring diseases affecting one in 100 000 people or less.

Amendment 5

Proposal for a recommendation Recital 5

(5) Because of their low prevalence and their specificity, rare diseases call for a global approach based on special and combined efforts to prevent significant morbidity or avoidable premature mortality, and to improve quality of life and socio-economic potential of affected persons. (5) Because of their low prevalence , their specificity and the high total number of cases , rare diseases call for a global approach based on special and combined efforts , including in partnership with third countries such as the United States, to prevent significant morbidity or avoidable premature mortality, and to improve quality of life and socio-economic potential of affected persons in developed and developing countries.

Amendment 6

Proposal for a recommendation Recital 8

(8) In order to improve the coordination and coherence of national, regional and local initiatives addressing rare diseases, all relevant national actions in the field of rare diseases should be integrated into national plans for rare diseases. (8) In order to improve the coordination and coherence of national, regional and local initiatives and cooperation between research centres addressing rare diseases, all relevant national actions in the field of rare diseases should be integrated into national plans for rare diseases.

Amendment 7

Proposal for a recommendation Recital 13

(13) The Community added-value of European reference networks is particularly high for rare diseases by reason of the rarity of these conditions, which implies both limited number of patients and scarcity of expertise within a single country. Gathering expertise at European level is therefore paramount to ensure equal access to high quality care to rare disease patients. (13) The Community added-value of European reference networks is particularly high for rare diseases by reason of the rarity of these conditions, which implies both limited number of patients and scarcity of expertise within a single country. Gathering expertise at European level is therefore paramount to ensure equal access to accurate information, appropriate and timely diagnosis and to high quality care to rare disease patients.

Amendment 8

Proposal for a recommendation Recital 14 a (new)

(14a) On 12 October 2008 the Pharmaceutical Forum adopted its final report, which proposes guidelines to enable Member States, stakeholders and the Commission to step up their efforts to guarantee easier and swifter access to orphan medicinal products within the European Union.

Amendment 9

Proposal for a recommendation Recital 20

(20) Patients and patients’ representatives should therefore be involved at all steps of the policy and decision-making processes. Their activities should be actively promoted and supported, including financially, in each Member State. (20) Patients and patients’ representatives should therefore be involved at all steps of the policy and decision-making processes. Their activities should be actively promoted and supported, including financially, in each Member State , but also at EU level in terms of pan-EU patient support networks for specific rare diseases .

Amendment 10

Proposal for a recommendation Recommendations to Member States – paragraph 1 – introductory part

1. Establish national plans for rare diseases in order to ensure to patients with rare diseases universal access to high quality care, including diagnostics, treatments and orphan drugs throughout their national territory on the basis of equity and solidarity throughout the EU, and in particular: 1. Establish national plans for rare diseases in order to ensure to patients with rare diseases universal access to high quality care, including diagnostics, treatments and orphan drugs , as well as rehabilitation and habilitation for those living with the disease throughout their national territory on the basis of equity and solidarity throughout the EU, and in particular:

Amendment 11

Proposal for a recommendation Recommendations to Member States – paragraph 1 – point 1

(1) elaborate and adopt a comprehensive and integrated strategy, by the end of 2011 , aimed at guiding and structuring all relevant actions in the field of rare diseases in the form of a national plan for rare diseases; (1) elaborate and adopt a comprehensive and integrated strategy, by the end of 2010 , aimed at guiding and structuring all relevant actions in the field of rare diseases in the form of a national plan for rare diseases;

Amendment 12

Proposal for a recommendation Recommendations to Member States – paragraph 1 – point 3

(3) define a limited number of priority actions within the national plan for rare diseases, with concrete objectives, clear deadlines, management structures and regular reports; (3) define a limited number of priority actions within the national plan for rare diseases, with concrete objectives, clear deadlines , substantial and clearly designated funding , management structures and regular reports;

Amendment 13

Proposal for a recommendation Paragraph 1 – point 3 a (new)

(3a) Declare whether they have any specialised centres and compile a catalogue of experts;

Amendment 14

Proposal for a recommendation Recommendations to Member States – paragraph 1 – point 5

(5) include in the national plans provisions designed to ensure equitable access to high quality care, including diagnostics, treatments and orphan drugs, to all rare disease patients throughout their national territory with a view to ensuring equitable access to quality care on the basis of equity and solidarity throughout the European Union. (5) include in the national plans provisions designed to ensure equitable access to high quality care, including diagnostics, primary preventive measures, treatments and orphan drugs, as well as rehabilitation and habilitation for those living with the disease for the benefit of all rare disease patients throughout their national territory with a view to ensuring equitable access to quality care on the basis of equity and solidarity throughout the European Union following the principles agreed in the High Level Pharmaceutical Forum paper entitled ‘Improving access to orphan medicines for all affected EU citizens’ .

Amendment 15

Proposal for a recommendation Recommendations to Member States – paragraph 1 – point 5 a (new)

(5a) encourage efforts to avoid rare diseases which are hereditary, through: (a) genetic counselling of carrier parents; and (b) where appropriate and not contrary to existing national laws and always on a voluntary basis, through pre-implantation selection of healthy embryos.

Amendment 16

Proposal for a recommendation Recommendations to Member States – paragraph 1 – point 5 b (new)

(5b) provide for exceptional measures within the national plans in relation to making available medicinal products which have no marketing authorisation, when there is a real public health need; and, in the absence of appropriate and available therapeutic alternatives in a Member State, and when the risk/benefit balance is presumed to be positive, ensure that patients affected by rare diseases have access to the medicinal products in question.

Amendment 17

Proposal for a recommendation Recommendations to Member States – paragraph 1 – point 5 c (new)

(5c) establish at the national level multi- stakeholder advisory groups comprising all interested stakeholders to guide governments in the setting up and implementation of national action plans for rare diseases. These should ensure that governments are well-informed and that the decisions taken at national level reflect the views and needs of society.

Amendment 18

Proposal for a recommendation Recommendations to Member States – paragraph 1 – point 5 d (new)

(5d) encourage treatments for rare diseases to be funded at national level. Where Member States may not wish or may not be able to have Centres of Excellence, this central national funding should be used to ensure that patients can travel to a Centre in another country. However, it is also vital that this separate budget is annually reviewed and adapted on the basis of the knowledge about patients needing treatment in that given year, and about possible new therapies to be added. This should be done with the input of the multi-stakeholder advisory committees.

Amendment 19

Proposal for a recommendation Recommendations to Member States – paragraph 2 – point 1

(1) implement a European Union common definition of rare diseases as those diseases affecting no more than 5 per 10 000 persons; (1) implement a European Union common definition of rare diseases as those diseases affecting no more than 5 per 10 000 persons , as a number for the whole European Union, but it is very important to know the exact distribution for each Member State ;

Amendment 20

Proposal for a recommendation Recommendations to Member States – paragraph 2 – point 4

(4) support at national or regional level specific disease information networks, registries and databases. (4) support , in particular by financial means, at European, national or regional level specific disease information networks, registries and databases , including regularly-updated information, which is accessible to the public on the internet .

Amendment 21

Proposal for a recommendation Recommendations to Member States – paragraph 3 – point 3

(3) foster participation of national researchers and laboratories in research projects on rare diseases funded at Community level; (3) foster participation of national researchers and laboratories in research projects on rare diseases funded at Community level and make use of the possibilities offered by Regulation (EC) No 141/2000 on orphan medicinal products ;

Amendment 22

Proposal for a recommendation Recommendations to Member States – paragraph 3 – point 3 a (new)

(3a) foster knowledge-sharing and cooperation between researchers, laboratories and research projects in the European Union and similar institutions in third countries, to bring global benefits not only to the European Union but also to poorer and developing countries, which are less well placed to provide resources for research into rare diseases;

Amendment 23

Proposal for a recommendation Recommendations to Member States – paragraph 3 – point 4

(4) include in the national plan for rare diseases provisions aimed at fostering research, including public health and social research, in the field of rare diseases, especially with a view to the development of tools such as transversal infrastructures as well as disease-specific projects . (4) include in the national plan for rare diseases provisions aimed at fostering research, including public health and social research, in the field of rare diseases, especially with a view to the development of tools such as transversal infrastructures as well as disease-specific projects, and rehabilitation and habilitation programmes for the duration of a rare disease as well as research on diagnostic tests and tools ;

Amendment 24

Proposal for a recommendation Recommendations to Member States – paragraph 3 – point 4 a (new)

(4a) provide adequate and long-term funding, for example through public-private partnerships, so as to support research efforts at national and European level and guarantee the sustainability thereof.

Amendment 25

Proposal for a recommendation Recommendations to Member States – Paragraph 4 – point 1

(1) identify national or regional centres of expertise throughout their national territory by the end of 2011, and foster the creation of centres of expertise where they do not exist notably by including in their national plan for rare diseases provisions on the creation of national or regional centres of expertise; (1) identify national or regional centres of expertise throughout their national territory by the end of 2011, and foster the creation of centres of expertise where they do not exist notably by including in their national plan for rare diseases provisions on the creation of national or regional centres of expertise; help compile catalogues of rare diseases and rare diseases experts;

Amendment 26

Proposal for a recommendation Recommendations to Member States – paragraph 4 – point 3

(3) organise healthcare pathways for patients through the establishment of cooperation with relevant experts within the country or from abroad when necessary; cross-border healthcare, including mobility of patients, health professionals and providers and provision of services through information and communication technologies should be supported where it is necessary to ensure universal access to the specific healthcare needed; (3) organise European healthcare pathways for those patients suffering from rare diseases through the establishment of cooperation with relevant experts within the country or from abroad when necessary; cross-border healthcare, including mobility of patients and expertise through data-mobility support , health professionals and providers and provision of services through information and communication technologies should be supported where it is necessary to ensure universal access to the specific healthcare needed;

Amendment 27

Proposal for a recommendation Recommendations to Member States – paragraph 4 – point 5

(5) ensure that national or regional centres of expertise adhere to the standards defined by the European reference networks for rare diseases taking into due account the needs and expectations of patients and professionals. (5) ensure that national or regional centres of expertise adhere to the standards defined by the European reference networks for rare diseases taking into due account the needs and expectations of patients and professionals , by involving patients in the activities of these centres ;

Amendment 28

Proposal for a recommendation Recommendations to Member States – paragraph 4 – point 5 a (new)

(5a) encourage, possibly with European Union funding or co-funding, centres and hospitals of expertise to create specific training for professionals in certain rare diseases and allow them to acquire relevant expertise.

Amendment 29

Proposal for a recommendation Recommendations to Member States – paragraph 5 – point 1 – point b

(b) European guidelines on population screening and diagnostic tests; (b) European guidelines on population screening and diagnostic tests , including genetic tests like heterozygote testing and polar body diagnosis, ensuring high- quality testing and appropriate genetic counselling while respecting ethical diversity in the Member States ;

Amendment 30

Proposal for a recommendation Recommendations to Member States – paragraph 5 – point 1 – point c

(c) sharing Member States’ assessment reports on the therapeutic added value of orphan drugs at EU level, in order to minimise delays for access to orphan drugs for rare disease patients; (c) establishing Member States’ assessment reports on the clinical added value of orphan drugs at EU level within the European Medicines Agency (EMEA) where the relevant European knowledge and expertise is gathered , in order to minimise delays for access to orphan drugs for rare disease patients;

Amendment 31

Proposal for a recommendation Recommendations to Member States – paragraph 5 – point 1 – point c a (new)

(ca) structural support for investment in the Orphanet database to ensure ease of access to information concerning rare diseases.

Amendment 32

Proposal for a recommendation Recommendations to Member States – paragraph 6

6. Empowerment of patient organisations 6. Empowerment of independent patient organisations

(1) take action to ensure that patients and patients’ representatives are duly consulted at all steps of the policy and decision-making processes in the field of rare diseases, including for the establishment and management of centres of expertise and of European reference networks and for the elaboration of national plans; (1) take action to ensure that patients and independent patients’ representatives are duly consulted at all steps of the policy and decision-making processes in the field of rare diseases, including for the establishment and management of centres of expertise and of European reference networks and for the elaboration of national plans;

(2) support the activities performed by patient organisations, such as awareness-raising, capacity-building and training, exchange of information and best practices, networking, outreach to very isolated patients; (2) support the activities performed by independent patient organisations, such as awareness-raising, capacity-building and training, exchange of information and best practices, networking, outreach to very isolated patients;

(2a) ensure that funding for patient organisations which is not directly linked to single pharmaceutical companies is provided;

(2b) facilitate patient access to information existing at European level concerning medicines, treatments or treatment centres in the Member States or third countries providing medical care specifically suited to their illnesses;

(3) include in the national plans for rare diseases provisions on the support to and the consultation of patient organisations as referred to in paragraphs (1) and (2). (3) include in the national plans for rare diseases provisions on the support to and the consultation of independent patient organisations as referred to in paragraphs (1) and (2) ; ensure that national plans provide for the identification of national or regional centres of expertise and for the compilation of catalogues of experts on rare diseases.

Amendment 33

Proposal for a recommendation Recommendations to the Commission – paragraph -1 (new)

(-1) To support, in a sustainable way, ‘Orphanet’, a European website and ‘one-stop shop’ providing the following information: (a) on the existence of specific research into rare diseases, the findings thereof and their availability to patients, (b) on available medicines for each rare disease, (c) on the treatment existing in each Member State for each rare disease, (d) on existing specialist medical centres in Member States or third countries for each rare disease.

Amendment 34

Proposal for a recommendation Recommendations to the Commission – paragraph 1