The document discusses the activities and goals of IPPOSI, a patient-led organization in Ireland focusing on rare diseases and health innovation. It highlights Clara's story as a case study of the challenges faced by patients with rare conditions and the need for greater patient involvement in healthcare decisions. The document emphasizes the importance of coordinated research efforts, patient empowerment, and policy development to address the needs of individuals affected by rare diseases.

1. PATIENTS – SCIENCE – INDUSTRY
UCD Rare Disease Module, March 28th, 2017
Derick Mitchell, PhD

2. Overview
• Context
• Environment IPPOSI exists in / was created to address
• IPPOSI – aims/objectives
• Rare diseases in Ireland & Europe
• Centres of Expertise – European Reference Networks
• Orphan drugs & technologies
• Your feedback

3. May you live in changing times….

4. Clara’s Story
• At birth, Clara was diagnosed with
Achondroplasia - a rare bone disease
that no one knew about in the local
hospital.
• With no experts in the local area, Inés,
Clara’s mum, became the expert,
directing the medical teams
• Clara had to go through months of countless exams and medical
appointments
• She had three surgeries, one of which was life threatening and possibly
avoidable
• Meanwhile, Inés had to cope with the worry, take numerous days off work and
leave behind her 3 year-old son with his grandmother
Slide courtesy of A. Daly, EURORDIS

5. Patient‘s organisations have
unique insights in “real life“
and “real needs“ of patients:
Clinical Research Design
Priority Setting
Research Policy
Building a new environment for health
care and research
5

6. In a changing system - the two loops theory
Trailblazers
Protectors
Firefighters
Illuminators
Platform

7. • https://vimeo.com/194851031

8. IPPOSI? Who?IPPOSI
A patient-led organisation
that works with patients,
government, industry,
& science to put patients at the
heart of health innovation

9. IPPOSI Members (examples)
100+ Patient Organisations
100+ Scientific/Regulatory/Agencies
(200+ individuals)
20 Industry members

10. Partnership Approach
Other Stakeholders
Patient
Experts
• Encourage open, constructive dialogue
and interaction
• Highlight value that patients can bring
• Develop new opportunities for patients
to influence decision-making

11. Patient-led activities
Health Hacks
Workshops
Conferences
Consultations
Round-tables
Working Groups
Training Days
Rare Diseases
eHealth
Clinical Research
Health Information
Health Economics
Patient Registries
Biobanking

12. Rare Diseases in Europe
• Rare diseases in EU = 5 in 10,000
• 6-7,000 rare diseases found (Orphanet)
• Up to 6% - 8% of EU population affected at one point in life = 30
million people in the EU are affected or will be affected by a Rare
Disease
• Republic of Ireland = 157,000 have a Rare Disease
• 200,000 in the population yet to be diagnosed

13. Rare Diseases in European policy
Early 2000s
• Rare Diseases not a recognised as a public health priority and there were
no public health policies for RD
2017
• EU regulations on medicines: orphan, paediatric, advanced therapies,
(Regulation EC NO 141/2000)
• EU Health Strategy (2008-2013): Rare Diseases = a strategic objective
• EU Research FrameWork Programme (2007- 2013): RD = a priority
• National Plans on Rare Diseases

14. EU Council Recommendation on Action in the
Field of Rare Diseases (June 2009)
• This recommendation is important because it calls for concerted action at EU and
national level in order to:
• Ensure that rare diseases are adequately coded and classified
• Enhance research in the field of rare diseases
• Identify Centres of Expertise by the end of 2013 and foster their participation into European
Reference Networks
• Support the pooling of expertise at European level
• Share assessments on the clinical added value of orphan drugs
• Foster patient empowerment by involving patients and their representatives at all stages of
the decision making process
• Ensure the sustainability of infrastructures developed for rare diseases

15. EU Committee of Experts on Rare Diseases
‘EUCERD’
• Multi-stakeholder
• Provided an opportunity to enhance the partnership
between all rare disease stakeholders - patient
representatives, academic experts, industry, national and
European decision makers
• Comprehensive
• Provided the opportunity to discuss, promote and guide EU
policy in all main fields of action relevant for rare diseases

16. Rare Diseases in Ireland
• National Plan – Ireland 2014-2018 (published May 2015)
• Patient Involvement – key to success
• Member of the steering committee to develop the plan
• IPPOSI Head of subgroup on Orphan Drugs
• Member of the plan Implementation Oversight Committee
• June 2015
• Launch of the National Rare Disease Office – Mater Hospital
www.rarediseases.ie

17. Centres of Expertise
EUROPEAN REFERENCE NETWORKS

18. ADDRESSING THE NEED
Integrated action and collaboration
The traditional short duration of
contracts hampers the sustainability
of research
• Better coordination and better optimisation of research activities, including standards and tools,
and research funding
• Reinforced public funding both at the EU and national levels
• In this framework, the potential of ERNs to embed and boost research activities should be
exploited
The lack of coordination in
initiatives, tools and standards
causes a waste of limited resources
To better coordinate both policy and
funding within a strategic framework
To ensure the long-term continuity of
research and limit the loss of
precious funds
Slide courtesy of A. Daly, EURORDIS

19. HOW PATIENTS CAN DELIVER
Full involvement of expert & empowered patients as
actors of research
• co-funding, leveraging & private-public partnerships
• identification of unmet research needs
• gap analysis
• definition of the research strategy
• clinical trial design
• identification of participants for clinical trials
• source of data
Slide courtesy of A. Daly, EURORDIS

20. WHERE THERE ARE CHALLENGES THERE ARE OPPORTUNITIES
• Science has taken enormous steps over the last 10-15 years scientific and technological advances, mostly but not
only limited to genetics
 Opportunity to address societal and ethical questions that these advances raise, not least of all how to address
the deepening of inequalities across countries & regions in access to results of scientific research, i.e. improved care
& therapies
• Cooperation in the field of research can bring about significant results as shown by voluntary initiatives such as E-
Rare (funding), and IRDiRC
 We need nhanced and structured cooperation in research
• Full integration of ERNs into national healthcare systems. Creation of the ERNs that will pool of experts, patients,
researchers:
 Will enable the creation of Clinical Research Networks for Rare Diseases strategically aligned with the ERNs
• Increasingly complex system in the field of rare disease research
 Clustering training and capacity building activities aimed to patients but also to young scientists, clinicians etc.
Slide courtesy of A. Daly, EURORDIS

21. ERNs & Research Infrastructure
21
Always between a patient and a doctor in a hospital
Data sharing is the key to unlock the potential of ERNs
Optimising the use of existing knowledge
Generating new knowledge
Aiming for clinical excellence and improved patients outcomes
Research
Infrastructure
Clinical
Research
Networks
European
Reference
Networks
Slide courtesy of A. Daly, EURORDIS

22. Orphan Drugs

23. What we know….
• Irish health system is unique + requires an Irish solution
• 2014: 9 ODs assessed, majority eventually approved
• High budget impact = decisions take longer
• No funding process in place

24. What we don’t know…..
• What the final decisions are based on?
• How many ODs are currently available in Ireland?
• What reimbursement of ODs actually costs?
• How ODs are being prescribed/monitored?

25. IPPOSI views on Orphan Drugs (ODs)
• Separate assessment system with different criteria for assessing
OD in Ireland
• Criteria should consider
• where patient perspective can be incorporated
• the cost to the state of not treating someone
• Transparency and Communication

26. Health Technology Assessment

27. Active Partnership with HIQA + NCPE
• HIQA have patient involvement on the advisory board
of individual HTAs
• Annual HTA Training for patients through IPPOSI
• Acknowledgement that data provided by patient
organisations is invaluable to NCPE assessments
• Irish patient groups exploring measuring patient
outcomes with the NCPE

28. European Patients Academy on
Therapeutic Innovation (EUPATI) www.eupati.eu

29. Roles change as a result of EUPATI
course
- creating patient leaders
Role Before EUPATI After
Member of patient organisation, not actively involved 17% 2%
Active role in a patient organisation 62% 71%
Leadership role in a patient organisation 62% 71%
Employee of a patient organisation 25% 23%
Volunteer role in a patient organisation 60% 67%
Presenting at conferences, workshops etc. 63% 83%
Advising a pharmaceutical company 13% 44%
Advising a regulatory agency 21% 42%
Advising a reimbursement agency 4% 8%
EUPATI Fellows are increasingly taking leadership roles and are engaging with
pharma, regulators and HTA bodies.
Role changes also imply identity shifts.

30. Irish Patient Education Programme

31. Patient Narrative Project
Person-Centered, Coordinated Care
• A set of generic descriptors for what person-centred,
coordinated care looks and feels like from the Irish
service user perspective
• A definition for ‘person-centred coordinated care’ that
is shared, understood and used by service users and
staff at all levels of the health service in Ireland