“Why Research on Rare Diseases”EURORDIS’ position paper

Beatrice de MontleauBoard member

EURORDIS

Amsterdam, 14 May 2011

www.eurordis.org

CONTENTS

History Your involvement Aims of this paper Part 1 - The ethical and social justice imperatives Part 2 - The economic argument Part 3 - Scientific trends Part 4 - The way forward Conclusion

History of research on RD within Eurordis

Eurordis/RD Patients’ contribution to shaping the needs for research on rare diseases: Position Paper in 2005 for the preparation of the 7th FP European Workshop on “Gaining Access to RD Research Resources” in 2007 Collaboration on the preparation of the EC conference on “Rare Disease research: building on

success” (Sept 2007) Contribution to the Commission Communication on Rare Diseases in 2008 Contribution to the definition of the Council Recommendations (2009) Contribution to the EUROPLAN project to promote National Plans for Rare Diseases in all

Member States before 2013 Rare Disease Day 2010 – Bridging Patients and Researchers EURORDIS Survey on Rare Disease Patient Groups in Research: their role and priorities for the

future

History of this Position Paper

End 2009, starting point:

Following meetings, exchanges and discussions with manystakeholders in RD research, EURORDIS realises that nobodyis really ready to argue:

- “Why do we need to have a specific policy on RD research?"

- “Why do we need a specific additional budget on RD research?”

- “What is so specific about RDs research which cannot be performed through the existing research policy and budget and programmes?“

A clear need to provide solid arguments in response to these questions in preparation to 8th EC Research Framework Programme and National Plans on RD

History of this Position Paper

Main steps :

October 2009 – Meeting with Dr. Ruxandra Draghia-Akli, newly appointed Director for Health Research at the European Commission, DG Research

1 November 2009 – First draft consultation with EURORDIS advocacy group November 2009 – Discussion with EURORDIS Board of Directors 7 November 2009 – Discussion at EURORDIS Board of Directors January 2010 – New revised draft integrating Board comments and launch of

consultation with expert group 1 March 2010 - Rare Disease Day (RDD) 2010 workshop “Bridging Patients

and Researchers to build the future agenda for rare disease research in Europe” : Presentation of the Draft version and launch of extended consultation

April 2010 – End of consultation with attendees of the RDD May 2010 – New draft consolidated draft integrating comments and revisions

proposed by the RDD attendees July 2010 – Further discussion at EURORDIS Board of Director September 2010 – Final draft

AIMS of the paper

To highlight and bring together the ethical, social, economic and scientific imperatives for conducting research into rare diseases.

To answer the call of the community of millions of patients that EURORDIS represents, further supported by the analysis carried out in the past years on the needs of the fundamental, translational and clinical research.

It is an EMERGENCY!

AIMS of the paper

Despite the success of the OD Regulation and numerous RD projects funded by FP6 and FP7, rare diseases patients deserve a greater emphasis in the research enterprise.

Need for a higher level of prioritisation of :– research policy on rare diseases–more robust policies and programmes–substantial budget investments.

This call is part of a broader claim for higher prioritisation and more significant budget allocations to health research in general, which will enhance both EU competitiveness in a knowledge-based society, and improve social justice.

Part 1 – Ethical and social justice

I - The ethical and social justice imperative: conditions of enhanced vulnerability requires enhanced measures

1.1. Introduction: The specific features of rare diseases

Rare diseases are … RARE

Rare diseases are multi-faceted complex heterogeneous (between 5000 and 8 000)

Expertise on rare diseases is LIMITED

1.2. The rationale of a specific response on research on rare diseases

Principle of EQUALITY

Social justice and solidarity

1.3. Rare but specific, a success story

Better and often exclusive chances of success, thanks to:

A multidisciplinary and coordinated approach

A supranational response (European or more)

Optimised resources / Pooling and organising the scarce resources

Key role of the rare disease Centres of Expertise (at the national level) and their networking activities (at the European level)

Part 1 (2)Part 1 – Ethical and social justice

II - The economic argument: overcoming the inherent lack of attractiveness through public intervention

2.1. An inherent lack of economic and career attractiveness

« The rare disease patients’ community calls for urgent specific targeted measures »

2.2. The case for public support

2004 WHO Report: ”Due to the rarity of the patients with a specific disease it is recommended to fund research with public money.”The recently adopted Council Recommendation on Rare Diseases10. It invites Member States to “include in their plans or strategies provisions aimed at fostering research in the field of rare diseases”.Exemple given by NIH – TRND programm in 2009Spending for research on RD by EU Commission and member states: key figuresPublic/private partnerships, with “private” referring not only to industry funds but also to the contribution of patient

Part 2Part 2 – The economic argument

2.3. Reconsidering the inherent unattractiveness of research on rare diseases

2.4. The cost of non-research

Ignorance is expensive, not the development of knowledge.

Studies on the costs of non-research are needed

Part 2 (2)Part 2 – The economic argument

III - Scientific trends: the wider community benefits from research on rare diseases

3.1. Research on rare diseases advances medical research in general

3.2. Research on rare diseases is a laboratory for new health care policies

Part 3Part 3 – Scientific trends

Treating rare diseases as a homogeneous group needing coherent research policy responses.

Structuring the research activities in national centres for translational research and European Reference Network or Network of Excellence for Research.

Sharing common infrastructures

Ensuring a coordinated and multidisciplinary approach. Best achieved by Centres of Expertise

Pooling the scarce resources existing at national level and pursuing a supranational approach.

Ensuring that public research funds –both at national and EU level- can bridge the critical gap in research on rare diseases that cannot be realised under normal market conditions by private funders.

Part 4Part 4 – The way forward

In any case, keeping funding of basic research Continuing supporting a strong European basic and translational

research, which represents the best way to attract industry’s interest Promoting public‐private partnerships, where private does not only

refers to ‘industry’ but also to patient organisations or other potential funders.

Continuing supporting _both at national and EU level_ regulatory incentives (eg. EC Regulation on Orphan Drugs)

Supporting the development of research on rare diseases, where this fosters progress in medical research, in general, with positive impact on more prevalent diseases.

Supporting research on rare diseases in Centres of Expertises as ‘laboratory’ to develop new approaches to address patients’ needs and healthcare.

Part 4 (2)Part 4 – The way forward

To develop the knowledge (e.g. epidemiology and natural history of the disease) and the tools (e.g. registries and biobanks) that will allow a real evaluation of the impact of any therapy and public health measure on their lives such as: quality of life studies, economic and social impact of RDs…

To raise awareness of decision makers on the needs for investing in rare disease research and to help them to establish the most appropriate common strategy . (For example, through official participation in scientific committees within relevant institutions and programmes).

To ensure the dialogue between all actors involved in research and to help them to stay focused on the final objective.

Conclusion: Patient involvement, a prerequisite

This Paper will be disseminated jointly with a 2nd Paper on “What priorities and needs for RD research” (currently being drafted)

National Alliances will address relevant national decision-makers and administrators

EURORDIS will address the European Commission and European Institutions

Dissemination