eurordis

1. www.eurordis.org Commission Communication to the European Parliament and the Council on a European action on Rare Diseases

2. Triggering events There has been a series of recent events that triggered a favourable momentumfor Rare Diseases and that will accompany the process: - European Conference on Rare Diseases - Luxembourg, June 2005 - The creation and role of the Rare Diseases Task Force - EURORDIS document: « Rare Diseases: understanding this Public Health Priority » and related advocacy activities; - European workshop on Centres of Expertise and European Reference Network for Rare Diseases (RAPSODY project) - Prague, June 2007 - European Conference on Research on Rare Diseases - Brussels, September 2007 - European Conference on Rare Diseases - Lisbon, November 2007

3. Rational by DG Sanco Presentation of DG SANCO priorities on Rare Diseases: - Regulation on Orphan drugs; - RD as a priority in the Public Health Programme; - RD as a priority in 6th and 7th Framework Programme on Research (FP7); - European Reference Networks of Centres of Expertise for rare diseases; - EU Projects identifying rare diseases and assessing prevalence, supporting cooperation between rare diseases organisations and creating networks of action for rare diseases; - European Conferences on Rare Diseases; - The DG Sanco Task Force on Rare Diseases (RDTF); - EU action to improve classification and codification of rare diseases in the next ICD-11 (International Classification of Diseases).

4. Rational by DG Sanco Toni Montserrat announced that a Commission Communicationon RD was part of the EC Annual Management Plan 2007, possibly accompanied by a Recommendation from the Council on the basis of Art. 152 as the most appropriate instrument to coordinate action of MS in the field of RD. Recommendations are not legally binding tools but they do bear important political weight. The Recommendation is an instrument of indirect action aimed at preparing relevant legislation and policy in the Member States. Reminder: The European Community doesn’t have competence in the Public Health sphere which remains a national competence. The leading Unit within the Commission DG SANCO Directorate C “Public Health and Risk Assessment” is Unit C2 - Health information

5. Foreseen timeline • Timetable in the EC Annual Management Plan 2007 for the elaboration of the Communication and possible Recommendation is as follows: • June 2007: Scoping Paper to Commissioner Kyprianou Cabinet • August 2007: First Draft in consultation with drafting group • September 2007: Second Draft, official consultation of RDTF, COMP, EU HLG of Health Services and Medical Care, EURORDIS • November 2007: launch of the Public Consultation process • February 2008: Public Consultation process closed • April – December 2008: Final Draft. EC inter-service consultation. Impact Assessment Report. Consultation of Council, European Parliament, Social and Economic Council, Council of Regions

6. Current and next steps • Public Consultation placed on the Website on 20 November, with the text of the Communication only in English… • Official launching will be done by Mr Andrzej RYS - Director Public Health at DG SANCO, in the opening speech of the ECRD 2007 in Lisbon, on 27 November. • Official title has changed to « Public Consultation - Rare Diseases: Europe’s challenges”. • All the other linguistic versions have been made available during December 2007. • Closure date of Public Consultation: 14 February 2008. • Send contributions at the following email address: sanco-rarediseases-consultation@ec.europa.eu

7. Question 1 to 3 Questions 1 to 3: EU definition of rare diseases, inventory of diseases and better codification and classification of rare diseases: Q1 : Yes, EURORDIS supports the current EU definition of RD (less than 5 per 10.000 persons) to be extended to the whole of Europe. It is the one used in all the European institutions and official documents, as well as in most Member states. It would be a bad timing to change definition now in this founding EU document. Furthermore, a more restrictive definition would endanger the reimbursement of Orphan Drugs for some of the "less rare" rare diseases. Q2 : Yes, there is a need for better codification and classification allowing adequate traceability of RD in the health systems, through new codes for RD in death certificates. Q3: Yes, an accurate inventory of rare diseases, regularly updated, would be useful in order to maximise awareness and provide support to research.

8. Question 4 Should the European Reference Networks of Centres of Expertise privilege the transfer of knowledge? The mobility of patients? Both? How? EURORDIS position: Transfer of knowledge should be privileged. Patients do not find it pleasant to travel in other countries to be treated on a regular basis. Patients prefer high quality proximity care (because of language problems, difficult to travel, family/professional commitments). BUTmobility of patientsshould also be facilitated – financially, administratively and logistically - when needed: situations where it is necessary to travel include 2nd opinion at the moment of diagnosis, important medical interventions (e.g. transplants, surgery) and the definition of therapeutic options or when a treatment is not available in the home country. We are in favour of Centres of Expertise and European Reference Networks of Centres of Expertise but we don’t want patients to be « trapped » into this framework. Patients have to be helped in their wish to seek second opinion at critical moments of the development of their disease particularly in another Member state.

9. Question 5 Should on-line and electronic tools be implemented in this area ? Eurordis position. Yes, on-line and electronic tools are important. They should not be reserved to communication to or amongst professionals. On-line and electronic tools are very important to put patients in contact with each other, support very isolated patients and people living with very rare diseases, create on-line patient communities, produce peer knowledge. These New Information Technology tools can be life-saving as they help patients & families as well as professionals to cope with the disease and to improve quality of care in a comprehensive approach. They are also useful in breaking the geographic isolation of patients & families as well as experts, in helping maintaining a link of communication with centres of expertise and between medical consultations, and in emergency situations. These New Information Technology tools can also be useful to unleash new research potentials such as sharing databases between research groups, multi-centric data collection, sharing patient registers for European Reference Networks.

10. Questions 6 and 7 Q6: What can be done to further improve access to quality testing for rare diseases? Q7: Do you see a major need in having an EU level assessment of potential population screening for RD? Eurordis position: The existence of consensus opinions on quality testing at European level would be helpful, rather than 27 different approaches, especially because these tests for rare diseases are - by definition rarely - implemented. Therefore, expertise is rare. It would make sense to have quality protocols on this testing developed at EU level and expertise pooled in some laboratories around Europe rather than scattered incoherently throughout the EU. This does NOT mean that screening and diagnostic policies should be imposed at EU level. It means that consensus opinions elaborated by EU experts on the advantages and disadvantages of population screening by pooling rare expertise together while leaving relevant decisions to the Member States level would be a useful approach.

11. Question 8 Do you envisage the solution to the orphan drugs accessibility problem on a national scale or on an EU scale? EURORDIS position. The solution to the lack of patient access to orphan drugs is both at the EU and the national level and must be tackled in an articulated manner. EURORDIS proposal is to do the scientific assessment of the Therapeutic Added Value (HTA) and the estimation of an ex-factory EU reference price for each OD at EU level because the gathering of the relevant expertise is only possible at EU level. EURORDIS has proposed that the Committee for Orphan Medicinal Products (COMP), involving all Member states and patient representatives at the EMEA be in charge of this scientific assessment. This common European Assessment Report on the Therapeutic Added Value of Orphan Drugs prepared by COMP would facilitate - and therefore accelerate - the decisions on price and reimbursement to be still taken at national level by national competent authorities. This procedure would avoid unacceptable delays for patients.

12. Question 9 Should the EU have an orphan regulation on medical devices and diagnostics? It has been difficult to develop a position on this issue as we lack concrete examples where a medical device for a rare disease patient has not been developed because of lack of legal or financial incentive for the producer. Please let us know of any example you know where a producer did not want to produce a specific medical device because the market was so limited and where therefore a financial incentive to the producer would have changed the situation. If we can gather significant and concrete examples which could justify that an “Orphan Medical Device Regulation” should be adopted, then EURORDIS can act at European level.

13. Question 10 What kind of specialised social and educational services for rare diseases patients and their families should be recommended at EU level and at national level? This is the occasion for you to put forward to the Commission your needs and expectations in the area of specialised social and educational services for your disease or even better, across all or some rare diseases sharing common needs. Feel free to express in which area you believe the most important needs exists. Remember that the Commission has very limited competence in this area as it is in the remit of national policies. Still, the Commission can encourage and support the development of networking, sharing of best practices, promote pilot projects. Reminder EURORDIS has identified - and is developing through the EU-funded project RAPSODY - the following services as particularly useful for patients are care givers: respite care services, help-lines, therapeutic recreation programmes for children and young adults as well as integration at school. Eurordis gives a high priority to the European network of helplines.

14. Question 11 What model of governance and of funding scheme would be appropriate for registries, databases and biobanks? The main recommendation in this field would be to underline the importance of the following aspects: 1. Patients participation in the management of these research infrastructures. Patients are not just material providers and have the right and ability to participate in decisions that concern them directly; 2. Developing common tools that are “sharable” between different rare diseases and different countries; 3. Non-appropriation of these tools by commercial interests; 4. Long-term sustainability of these tools (not do the whole effort to create these infrastructures and then stop the funding after 3 to 5 years…this doesn’t make any sense).

15. Question 12 How do you see the role of partners (industries and charities) in an EU action on rare diseases? What model would be the most appropriate? We don’t quite well understand this question. It was added in the Communication after the end of the discussions that took place within the drafting group and in which EURORDIS had an active role. Therefore, EURORDIS will not send any comments to this question…

16. Question 13 Do you agree with the idea of having action plans? If yes should it be at national or regional level in your country? EURORDIS position.Yes, this is a very important point for EURORDIS. National public policy on rare diseases - embodied in a National Plan or strategy for Rare Diseases (NPRD) with concrete commitments in terms of actions, budgets, timelines and effective management - is an essential tool to improve the lives of people living with RD. The NPRD aim at integrating all the activities and initiatives on rare diseases at national and/or regional levels while being in a European perspective. Activities include scientific research, therapeutic development, information, diagnosis, care and support. The EU should recommend the adoption and coordination of NPRD according to the CCRD. European guidelines for the elaboration of NPRD would be very useful. EURORDIS and national rare disease alliances are playing a key role in promoting and shaping them.

17. Question 14 Do you consider it necessary to establish a new European Agency on Rare Diseases and to launch a feasibility study in 2009? Eurordis position. Yes, this Agency would be necessary in order to achieve the following two over arching goals: - To address the need for a permanent and sustainable instrument for long-term implementation of RD infrastructure at Community level particularly in research areas such as clinical research network, data management, scientific platform for animal models, registries, biobanks etc and transnational healthcare organisation such as European Reference Networks. - To organise permanence and coherence of relevant expertise at EU in areas where Member states can pool can their experts such as quality assessment of gene test, recommendation on counselling, screening, care consensus, etc A feasibility study in 2009 for the creation of the EU Agency on rare diseases is very welcome and would help defining the tasks of the Agency. EURORDIS has advocated in favour of the creation of such a body.

18. Missing question on support to patient’s organisations EURORDIS had proposed the following question “What kind of support aimed at empowering rare diseases patients and POs, such as networking activities, exchange of experience, dissemination of information and best practices, training, would you recommend?”. This question was not retained which is disappointing and symptomatic of the lack of real recognition of the current and potential role of rare disease patient groups. POs are recognised as “invaluable partners” at both national and European to increase the visibility of RD, gather, disseminate and produce quality information, exchange best practices, improve development and access to OD, organise events, organise relevant trainings and capacity-building activities, support « patient communities » for very isolated patients, networking activities, etc. And generally speaking help building a European RD Community. This recognition is fine BUT it is important to underline that the collective empowerment of patients and POs needs political and financial support in order for patients representatives to perform all the necessary tasks that are expected from them.

19. Missing question on priority areas for research on RD EURORDIS had proposed the following question, which was not retained: “Which are the priorities for research on rare diseases at EU level and at national level?”. EURORDIS position is that the major weakness of this Commission Communication as it is now, is in its lack of focus and proposals in research. There is a clear lack of “identification exercise” of research priorities in the field of rare diseases. On research infrastructures, such as databases, registries, repositories and biobanks: - Key instruments to develop clinical research. Fundamental to pool “rare data” in order to reach sufficient sample size for research. - Collaborative efforts needed for data collection and management within shared infrastructures, such as EuroBioBank, should be supported by the EC and by MS through long-term funding. Feel free to send your view and recommendation on this essential point.