Strategies for patient groups and partnership with industry

1. EXISTING RESOURCES, FUNDING OPPORTUNITIES AT EU AND
NATIONAL LEVELS, STRATEGIES FOR PATIENT GROUPS &
PARTNERSHIP WITH INDUSTRY
EURORDIS WINTER SCHOOL 2018
19 of March 2018
Institut IMAGINE, Paris, France
DARIA JULKOWSKA
E-RARE COORDINATOR
FRENCH NATIONAL RESEARCH AGENCY (ANR)

2. • Understand European RD research funding
landscape
• Know main RD funding schemes and
opportunities
• Understand the position of patient groups in
the current RD funding environment with its
obstacles and advantages
KEY LEARNING OBJECTIVES

3. • Funding of RD research at national level
• European funding schemes:
o E-Rare, ERA-Net for research programmes on rare
diseases
o Work Programmes of the European Commission
• Public-private partnerships: Innovative
Medicines Initiative
• Other opportunities
INTRODUCTION

4. FUNDING OF RARE DISEASE RESEARCH
AT NATIONAL LEVEL

5. • Ministries: of research or health:
o Provide direct funding to research institutions
o Fund through competitive calls
o Often impose some restrictions related to their own mission: ex.
ministries of health will finance only research teams from
hospitals and not academia (universities)
• Research funding agencies:
o Mandated by the ministry or government to distribute funds
through competitive calls
o Usually minimum number of restrictions, ex. some will not
finance companies
o Focus only on funding activities, ex. ANR (FR)
or
o May also perform research, ex. MRC (UK) or NIH (US)
• Dedicated institutes created to perform and finance research
ex. INCA (FR)
• Charities, non-for-profit foundations, patient organizations
TYPES OF FUNDING BODIES

6. • Dedicated funding programmes:
o Ex. national consortia for RD research (DE) or Priority
medicines for rare diseases and orphan drugs (NL)
o Not regular and limited in time  dependent on the
ministerial decisions
o Only few countries possess such programmes
• Open funding programmes (not focused on RD):
o Implemented by the majority of countries (Bluesky, generic,
open)
o Regular and included in the strategic research agendas of
countries
o Put in competition RD research with other research projects
o May have dedicated challenges/topics that encompass
RD research
o Span from basic to applied research
APPROACH TO FUNDING OF RD RESEARCH

7. AVERAGE BUDGETS INVESTED IN RD RESEARCH AT NATIONAL LEVEL*
(COMPETITIVE CALLS)
Agency Average national budget/year
ANR (FR) 10 M€
DLR/BMBF (DE) 27 M€
ISCIII (ES) 5.8 M€
FNRS (BE) 0.5 – 1M€
IT-MOH (IT) 30 M€
RER-ASSR (IT) 3 M€
ZonMw (NL) 11 M€
Tubitak (TR) N/A
FCT (PT) N/A
FWF (AT) N/A
GSRT (GR) 0.75 M€
OTKA (HU) 0.2 M€
UEFISCDI (RO) N/A
VIAA (LT) N/A
DFG (DE) As DLR/BMBF
CIHR/GC/FRQS (CA) ≥ 10M€
SNSF (CH) 8 M€
On average 100 M€ is invested each year in RD research
* Not exhaustive, countries presented in the table belong to the E-Rare consortium

8. TWO MAJOR GROUPS*:
• Well defined, strong community with academic and clinical
coverage; supported at national level either through national
plans or specific funding programmes; existence of spin offs
or start ups and clinical trials funding available; access to
tools like genetic identification, bioinformatics, omics, etc.
(AT, BE, CA, DE, FR, ES, IT, IL, NL, CH)
• Fragmented; no specific approach to RD at national level or
national plan in development; lack or limited national
registries or longitudinal studies; lack or low access to specific
tools (GR, HU, LT, RO, PL, PT, TR)
HOWEVER:
• The involvement of patients/patient groups in the national
funding activities is mostly visible in countries where
dedicated programmes are present. Patients are involved in
advisory boards and evaluation processes.
RD COMMUNITY IN DIFFERENT COUNTRIES
* Not exhaustive, countries presented belong to the E-Rare consortium

9. RD research funding at national level is strongly dependent on
the overall RD ecosystem of the country:
o Presence of national RD plans, visible/organized healthcare
system (reference centers), integration of new technologies
in diagnostics represent an incentive for (targeted)
investment in RD research
o Whenever the RD community is fragmented; there is no
specific approach to RD at national level or national plan in
development; lack or low access to specific diagnostics
tools, RD funding is neglected and difficult to obtain.
CONCLUSION
WHAT ARE OTHER OPTIONS TO FOSTER RD RESEARCH FUNDING?

10. FUNDING OF RARE DISEASE RESEARCH
AT EUROPEAN LEVEL

11. FUNDING OF RARE DISEASE RESEARCH
AT EUROPEAN LEVEL
?

12. • INSTRUMENT created by European Commission that shall
contribute to the development of European Research Area by
improving coherence and coordination of research programmes
across Europe and to ENABLE TO TACKLE COLLECTIVELY tasks
that would be much less efficient or not possible when done
independently
• ERA-Net consortium brings together funding bodies/ministries
• Funding comes from Member States and the EC (management
and/or contribution to calls)
ERA-NET: EUROPEAN RESEARCH AREA NETWORK

13. • ERA-NET for research programs on rare diseases
• Created in 2006 (E-Rare-1) renewed in 2010 (E-Rare-2) at
present funded under Horizon 2020 ERA-Net Co-fund
• E-Rare-3 (2014 - 2019)
• 28 partners from 20 European, Associated and non-European
countries (AT, BE, CA, CZ, CH, ES, FR, GR, HU, IT, IL, JP, LT, LV,
NL, PO, PL, RO, TR)
• Objective: coordinate and promote European and
international efforts for funding research on rare diseases
• E-Rare is mentioned in more than half of National Plans for
Rare Diseases
MAJOR FACTS ABOUT E-RARE

14. E-RARE ACTIVITIES
Coordination & Support
• Harmonization of national
programmes
• Development of strategic
agenda & active contribution
to IRDiRC
• Development of collaborations
with relevant stakeholders: EU
Research Infrastructures,
EURORDIS, EMA, etc.
Joint Transnational Calls
• Launched yearly
• Based on Member States (MS) &
EC contributions
• Variable participation of MS
Topics defined according to the
strategic priorities and needs of
the RD community: cover from
large RD focus to specific calls
on repurposing in CTs or novel
therapeutic approaches
• Collaboration/involvement of
patients in projects is strongly
encouraged

15. Neurology
Metabolic diseases
Dermatology
Others
Musculoskeletal Diseases
Rheumatology
Pulmonary/Respiratory
Diseases
Hematology/Immunology
Nephrology/Urology
Cardiology/Vascular
Diseases
Ophthalmology
Dysmorphology
Endocrinology
Psychiatry/Psychology
Medical domains represented in the funded projects
9 Joint Transnational Calls:
117 funded projects
104 M€ invested
Including 556 research
partners funded
Molecular and pathophysiological studies
Diagnostic
studies
Therapy Development (TD) TD
Pre-clinical and validation studies
Clinical
trials
28 12 8 13 7 6 16 9
From bench … … … … …to bedside
Number of
projects
E-RARE CALLS
18

16. 631
PUBLICATIONS
REGISTRIES
SAMPLES
DATABASES
100*
NEW genes
Discovered
104 M€
117RESEARCH
PROJECTS
556
TEAMS
100%
achieve
critical mass 54%
successful
application to other calls
More than
251*
STUDENTS
TRAINED
BIOBANKS
77%
New sustainable
collaborations
PROTOCOLS
* In 48 finalized projects
6 EU
INFRASTRUCTRES
+ 1 M€
Investment
by POs

17. • EURORDIS accompanied E-Rare from the start but was mainly
involved in the External Advisory Board
• In 2014 (E-Rare-3) EURORDIS joins the consortium as full partner
and contributes to the establishment of pilot for patient
organisations in transnational calls
• The pilot scheme is based on the Canadian model where POs
work hand in hand with the funding agency and jointly finance
projects
• The preliminary work of EURORDIS indicated that (in principle)
there are at least 60 POs interested by collaboration with E-Rare
E-RARE COLLABORATION WITH PATIENT ORGANIZATIONS

18. E-RARE COLLABORATION WITH PATIENT ORGANIZATIONS
PILOT ACTION

19. Results of pilot action:
• E-Rare call documents were further updated to match PO’s needs  agreement to
share the whole proposal (not only lay summary)
• Integration of EURORDIS representative in the evaluation board
• PO contributing with additional funds or support after agreement with research
consortium  2 PO contributed by funding patients’ travel and support for CT
Bottlenecks:
• The CA model does not fit in Europe  different approach of PO to collaboration with
public funders
• Scientific excellence vs choice of « my » research group dilemma
• Possible Conflict of interest (COI) of POs during the evaluation process  need for
experience of patients in judging the overall involvement of patients in projects not in
chosing projects from the scientific point of view
• Time & workload ratio vs final result not optimized
Result:
• The E-Rare – PO collaboration model is considered as new alternative to involve small PO
(with small budgets but which want to contribute actively to the projects)
• Trigger/opening for research teams to bring « their » POs as co-funders
E-RARE COLLABORATION WITH PATIENT ORGANIZATIONS

20. FUNDING OF RARE DISEASE RESEARCH
AT EUROPEAN LEVEL –
FRAMEWORK PROGRAMMES OF THE
EUROPEAN COMMISSION

21. • THE TREATY OF LISBON (ART.179): The Union shall have the objective of
strengthening its scientific and technological bases by achieving a European
research area in which researchers, scientific knowledge and technology
circulate freely, and encouraging it to become more competitive, including in its
industry, while promoting all the research activities deemed necessary by virtue
of other Chapters of the Treaties
• For this purpose the Union shall, throughout the Union, encourage undertakings,
including small and medium-sized undertakings, research centres and universities
in their research and technological development activities of high quality; it shall
support their efforts to cooperate with one another, aiming, notably, at
permitting researchers to cooperate freely across borders
GENERAL PRINCIPLES OF EU ACTIONS
IN THE DOMAIN OF RESEARCH
ESTABLISHMENT OF SO CALLED « FRAMEWORK PROGRAMMES »
• Framework Programmes (FP) are cyclic (7 years) and fall under other
overarching EU strategies

22. EUROPE 2020 STRATEGY
Europe 2020 is the European Union’s ten-year growth strategy set out as a vision of
Europe’s social market economy. It puts forward 3 mutually reinforcing priorities and 7
flagship initiatives to catalyse progress under smart, sustainable and inclusive growth,
providing a framework through which the EU and national authorities concentrate the
efforts in some policies where results should be achieved.
The aim of Flagship Initiative: “Innovation Union” is to re-focus R&D and innovation
policy on the challenge of bridging the gap, from research outputs to society
outcomes.

23. EU RESEARCH & INNOVATION PROGRAMME

24. HORIZON 2020: A COMPLEX PROGRAMME?

25. HORIZON 2020: A COMPLEX PROGRAMME?
FUNDING INSTRUMENTS:
• Support to collaborative R&I
through traditional calls
• ERA-Nets
• Public-Private Partnerships (ex. IMI)
• Joint Technology Initiatives (Art.
187)
• Public-public Partnerships (Art.
185)
• EIT-KICs (Art. 173)
• SME instrument
• Fast Track to Innovation
• ….

26. HORIZON 2020: A COMPLEX PROGRAMME?
FUNDING INSTRUMENTS:
• Support to collaborative R&I
through traditional calls
• ERA-Nets
• Public-Private Partnerships (ex. IMI)
• Joint Technology Initiatives (Art.
187)
• Public-public Partnerships (Art.
185)
• EIT-KICs (Art. 173)
• SME instrument
• Fast Track to Innovation
• ….
WORK PROGRAMMES:
• Cyclic (2 – 3 years)
• Reflect the overall strategy of the
Framework Programme
• Define specific topics of calls

27. Strategic
Programming
Documents
Scoping
Papers
Work
Programmes
HORIZON 2020 CYCLE – WORK PROGRAMMES
Advisory
Groups
Public
Consultation
MS via
Programme
Committees
Programme
Committees
FROM STRATEGIC PROGRAMMING TO WORK PROGRAMME:
H2020 CYCLE
Under responsibility of EC Decided jointly with MS

28. Strategic
Programming
Documents
Scoping
Papers
Work
Programmes
HORIZON 2020 CYCLE – WORK PROGRAMMES
Advisory
Groups
Public
Consultation
FROM STRATEGIC PROGRAMMING TO WORK PROGRAMME:
H2020 CYCLE
Under responsibility of EC
EC open calls for experts:
• Individual researchers can register as expert
• An organization can recommend an expert
EC may consult SRAs:
• JPIs, ETPs, EIPs, European Alliances
• Other relevant stakeholders

29. Strategic
Programming
Documents
Scoping
Papers
Work
Programmes
HORIZON 2020 CYCLE – WORK PROGRAMMES
MS via
Programme
Committees
Programme
Committees
FROM STRATEGIC PROGRAMMING TO WORK PROGRAMME:
H2020 CYCLE
MS nominate PC representatives:
• Meeting every 2 weeks
• Organization of Thematic Groups (GTN)

30. Strategic
Programming
Documents
Scoping
Papers
Work
Programmes
HORIZON 2020 CYCLE – WORK PROGRAMMES
Advisory
Groups
Public
Consultation
MS via
Programme
Committees
Programme
Committees
FROM STRATEGIC PROGRAMMING TO WORK PROGRAMME:
H2020 CYCLE
LOBBYING
& MULTINATIONAL COLLABORATION

31. • WP 2014 – 2015:
• ERA-NET: Rare disease research implementing IRDiRC objectives (E-Rare-3) (5 M€)
• New therapies for rare diseases (RIA) (WP 2015) (≈ 60 M€)
• Clinical validation of Biomarkers (SME instrument: open call)
• WP 2016 – 2017:
• Diagnostic characterisation of rare diseases (RIA) (15 M€)
• New therapies for rare diseases (RIA) (≈ 60 M€)
• WP 2018 – 2020:
• European Joint Programme for Rare Diseases (continuation of E-Rare) (55 M€)
• Other calls relevant for RDs:
• Understanding diseases: systems medicine ..
• .. validation of biomarkers/diagnostic devices ..
• .. New therapies for chronic diseases..
• .. tools ..technologies ..advanced therapies
• .. effectiveness of health care interventions in paediatric populations
• Piloting personalised medicine ..
• Digital representation of health data ..
• Clinical research on regenerative medicine
• PCP - eHealth innovation in empowering the patient
• In-silico trials for developing and accessing biomedical products
• Standardisation of pre-analytical and analytical procedures for in vitro diagnostics in personalised medicine
• Supporting innovative SMEs in the healthcare biotechnology sector
• Cell technologies in medical applications
• Clinical research for validation of biomarkers and/or diagnostic medical devices
EXAMPLES OF CALLS FALLING UNDER RD SCOPE IN H2020

32. RARE DISEASES RESEARCH FUNDING OF THE EUROPEAN COMMISSION
* Source: adapted from the presentation of Irene Norstedt, DG RTD, European Commission

33. RARE DISEASES RESEARCH FUNDING OF THE EUROPEAN COMMISSION
* Source: adapted from the presentation of Irene Norstedt, DG RTD, European Commission

34. PUBLIC-PRIVATE PARTNERSHIPS: INNOVATIVE
MEDICINES INITIATIVE

35. • The Innovative Medicines Initiative (IMI) is a partnership between the European
Union and the European pharmaceutical industry (EFPIA).
• IMI facilitates open collaboration in research to advance the development of,
and accelerate patient access to, personalised medicines for the health and
wellbeing of all, especially in areas of unmet medical need
• Foster collaboration between the key players involved in healthcare research,
including universities, research centres, the pharmaceutical and other industries,
small and medium-sized enterprises (SMEs), patient organisations, and medicines
regulators
• IMI is the world's biggest public-private partnership (PPP) in the life sciences: the
budget for 2014 - 2020 is of 3.3 billion €
INNOVATIVE MEDICINES INITIATIVE: WHAT IT IS?

36. • The top level objectives are set out in the legislation creating IMI1 and IMI2
• IMI also has a multi-annual Strategic Research Agenda (SRA), which sets out our
priority areas in more detail
• Every year, IMI sets out annual research priorities that form part of the Annual
Work Plan, which is approved by the Governing Board and published online.
These annual priorities are based on the need for collaboration in complex areas
of biomedical research and innovation, and are a result of consultations
between EFPIA companies, the European Commission and the other
stakeholders
• EFPIA individual companies, associated partners and third parties can propose
topics for calls that must be aligned with the SRA
• After refinement topic text is subject to a formal consultation with the European
Commission (EC), the IMI States Representatives Group (SRG) and the IMI
Scientific Committee (SC)
• The final choice of the topics to be included in the call is made by the IMI
Governing Board
INNOVATIVE MEDICINES INITIATIVE: HOW DOES IT WORK?

37. IMI support strongly the collaboration with patients:
o Through their involvement in IMI as Associated Partners (POs with their own research funding
programmes can be involved in the development of IMI call topics)
o As leaders of funded projects  EUPATI, The European Patients Academy, which focuses on
education and training to increase the capacity and capability of patients to understand and
contribute to medicines research and development and also improve the availability of
objective, reliable, patient-friendly information for the public (http://www.eupati.eu/welcome/)
o As partners in funded projects  U-BIOPRED, Unbiased BIOmarkers in PREDiction of respiratory
disease outcomes, which is a research project using information and samples from adults and
children to learn more about different types of asthma to ensure better diagnosis and treatment
for each person (http://www.europeanlung.org/projects-and-research/projects/u-biopred/home)
o As members of project Advisory Committee  PREFER, which looks at how and when it is best to
perform and include patient-preference in decision making during the drug life cycle. PREFER
includes patient stakeholders at every level of the project. The project aims to deliver
recommendations to support development of guidelines for industry, Regulatory Authorities and
HTA bodies (https://www.imi-prefer.eu/)
IMI: MULTIPLE LEVELS OF PATIENT ENGAGEMENT

38. • INTERNATIONAL RARE DISEASES RESEARCH CONSORTIUM (IRDiRC) set up in 2011, is a
consortium of about 50 international organizations (funding bodies, patient
organizations, companies and charities) that work together under common goals*
• IRDiRC is composed of General Assembly, 3 Scientific Committees (Diagnostics,
Interdisciplinary & Therapies) and 3 Constituent Committees (Funders, Patients and
Companies)
• Each Committee has the possibility to propose Task Forces that are established ad
hoc, based on the identified needs and will result in recommendations to be
implemented by the members and promoted at national and international level
• In the 2018 IRDiRC Roadmap, the PAC (patients) will focus on “Patients engagement
in research” through the comprehensive dialogue with all stakeholders
*2017 – 2027 IRDiRC vision: Enable all people living with a rare disease to receive an
accurate diagnosis, care, and available therapy within one year of coming to
medical attention
FOSTERING OBSTACLES IN PATIENT ENGAGEMENT IN
RESEARCH: IRDIRC PATIENT ADVOCACY COMMITTEE

39. • E-RARE: www.erare.eu
• IRDIRC: www.irdirc.org
• HORIZON 2020 funding opportunities:
http://ec.europa.eu/research/participants/portal/desktop/en/opportunities/index.h
tml
• RARE DISEASES & EC:
http://ec.europa.eu/research/health/index.cfm?pg=area&areaname=rare
https://ec.europa.eu/info/sites/info/files/rarediseases_p4p-report_2017.pdf
https://ec.europa.eu/health/rare_diseases/policy_en
• ORPHANET NEWSLETTER:
http://www.orpha.net/consor/cgi-bin/Directory_RegisterNewsLetter.php?lng=EN
• EURORDIS WEBSITE: https://www.eurordis.org/
WHERE TO FIND MORE INFORMATION?

40. THANK YOU
for any questions contact:
Daria julkowska
daria.julkowska@anr.fr
OR
daria.julkowska@inserm.fr