The document discusses European policies and national plans for rare diseases. It provides details on: - The 1999 European regulation on orphan medicinal products and 2008 EU communication on rare diseases that set out a community strategy. - The 2009 EU recommendation that member states develop national rare disease plans or strategies by 2013 addressing areas like care, research, and social services. - Updates from EUROPLAN 2015 on the status of national rare disease plans in 24 European countries. - Core indicators proposed by the EU to monitor national rare disease plans across areas like governance, care centers, research, and funding.

1. DURHANE WONG-RIEGER, PHD
PRESIDENT, CANADIAN
ORGANIZATION FOR RARE
DISORDERS
Update: National Plans
for Rare Diseases—2015

2. European Policies for Rare Diseases
 Orphan Medicinal Product Regulation (European Parliament and
Council 16 December 1999 on orphan medicinal products)
 Commission Communication on Rare Diseases: Europe’s challenge39,
adopted on 11 November 2008, set out an overall Community strategy
to support Member States in diagnosing, treating and caring
 Council Recommendation on an action in the field of rare diseases 8
 June 2009: engages Member States on supporting before end 2013
national plans and strategies for rare diseases, on improving
recognition and visibility of rare diseases, on encouraging research into
rare diseases and forging links between centres of expertise and
professionals in through creation of European reference networks
 Directive 2011/24/EU on the application of patients’ rights in cross-
border healthcare
Drug Information Associationwww.diahome.org
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3. EU Recommendation: National Plans
 2009: Recommendation supports adoption of national plans and strategies for
responding to rare diseases (RD) before 2013.
 The Council recommends that Member States should:
 - Establish and implement plans or strategies for rare diseases or explore measures for
rare diseases in other public health strategies, to ensure that patients have access to high
quality care, including diagnostics, treatments, habilitation for those living with the
disease and, if possible, effective orphan drugs.
 In particular, the Member States should:
 (a) elaborate and adopt a plan or strategy by the end of 2013 at the latest to guide and
structure actions in rare diseases within their health and social systems;
 (b) integrate initiatives at local, regional and national levels into their plans or strategies
for a comprehensive approach;
 (c) define a number of priority actions with objectives and follow-up mechanisms;
 (d) take note of the development of guidelines and recommendations of the EUROPLAN
project (European Project for Rare Diseases National Plans Development), funded under
the Community public health programme 2003-2008.
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4. EUROPLAN 2015: National Plans Update
 24 participating countries
 15 National Plans within EUROPLAN (2008-12)
 20 National Plans (EU countries)
 4 National Plans (ex-EU)
 6 Themes
1. Methodology and Governance of a National Plan
2. Definition, codification and inventorying of RD; Information and
Training
3. Research on Rare Diseases
4. Care - Centres of Expertise / European Reference Networks/Cross-
border Healthcare
5. Orphan medicines
6. Social Services for Rare Diseases

5. Drug Information Associationwww.diahome.org 5

6. EUROPLAN: National Plans or Strategies
 Austria: Ministry of Health Report on Rare Diseases in Austria (2012)
 Belgium: Recommandations et propositions de mesures en vue du Plan belge pour les
Maladies Rares (2010); Plan belge pour les Maladies Rares 2013 (in French)pdf
 Bulgaria: National Plan on Rare Diseases 2009-2013
 Croatia: National Plan for Rare Diseases
 Cyprus: Cyprus Strategic Plan for Rare Diseases (2012)
 Czech Republic: Czech National Strategy for Rare Diseases 2010-2020
 France: Plan National Maladies Rares (2005-2008); (2010-2014)
 Germany: Maßnahmen zur Verbesserung der gesundheitlichen Situation von Menschen
mit Seltenen Erkrankungen in Deutschland; Nationaler Aktionsplan für Menschen mit
Seltenen Erkrankungen 2013
 Greece: Greek National Plan on Rare Diseases 2008-2012
 Hungary: National Plan for Rare Diseases. Healthcare policy strategy for rare diseases
until 2020
 Ireland: National Rare Disease Plan for Ireland 2014
 Italy: Italian National Plan for Rare Diseases 2013-2016 (Draft)
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7. EUROPLAN: National Plans or Strategies
 Latvia: The Plan on Rare Diseases 2013 to 2015
 Lithuania: National plan on activities related to rare diseases)
 Luxembourg: Les maladies rares: Enquête sur la situation des personnes atteintes de
maladies rares au Grand-Duché de Luxembourg 2011
 Portugal: Programa Nacional para Doenças Raras 2008-2015
 Romania: Romanian National Plan for Rare Diseases 2010-2014 (Draft)
 Slovak Republic: Slovak National Strategy for the Development of Health Care for
Patients with Rare Diseases 2012-2013
 Slovenia: Work Plan for the Field of Rare Diseases in the Republic of Slovenia
 Spain: Estrategia en Enfermedades Raras del Sistema Nacional de Salud
 The Netherlands: Concept Nationaal Plan Zeldzame Ziekten netherlands; Nationaal Plan
Zeldzame Ziekten - Official site with information concerning the elaboration of a National
Plan for RD in the Netherlands
 United Kingdom: UK Plan for rare diseases consultation launched; UK Strategy for Rare
Diseases 2013
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8. EU National RD Plans: Core Indicators
Core indicators proposed to EU Member States to monitor National Plans
or Strategies on Rare Diseases.
 BACKGROUND INDICATORS (PREPARATION OF THE
PLAN/STRATEGY)
 1. Existence of regulations/laws, or equivalent official national
decisions that support the establishment and development of a Rare
Diseases (RD) plan
 2. Existence of a RD advisory committee
 3. Permanent and official patients’ representation in plan
development, monitoring and
 assessment
 4. Adoption of the EU RD definition
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9. EU National RD Plans: Core Indicators
CONTENT INDICATORS
 Centres of Expertise
 5. Existence of a national policy for establishing Centres of Expertise on RD
 6. Number of national and regional Centres of Expertise adhering to the national policy
 7. Participation of national or regional Centres of Expertise in European Reference Networks
 Information
 8. NP/NS support to the development of/participation in a comprehensive national
and/or regional RD information system
 9. Existence of Help lines for RD
 Knowledge, classification/coding, registries and research
 10. Existence of national policy on RD clinical practice guideline development and
implementation
 11. Type of classification/coding used by the health care system
 12. Existence of a national policy on registries or data collection on RD
 13. Existence of RD research programmes and/or projects in the country
 14. Participation in European and international research initiatives
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10. EU National RD Plans: Core Indicators
CONTENT INDICATORS
 Therapies
 15. Number of Orphan Medical Products (OMPs) with a European Union marketing
authorisation and available in the country (i.e. priced and reimbursed or directly
supplied by the national health system)
 16. Existence of a governmental system for compassionate use of medicinal products
 Social services
 17. Existence of programmes to support the integration of RD patients in their daily
life
 FINANCIAL SUPPORT INDICATORS (IMPLEMENTATION OF THE
PLAN/STRATEGY)
 18. Existence of a policy/decision to ensure long-term sustainability of the RD
plan/strategy
 19. Amount of public funds allocated to the RD plan/strategy
 20. Specific public funds allocated for RD research
 21. Public funds specifically allocated for RD research actions/projects per year since
the plan started
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11. EU National RD Plans: Core Indicators
FINANCIAL SUPPORT INDICATORS
(IMPLEMENTATION OF THE PLAN/STRATEGY)
18. Existence of a policy/decision to ensure long-term sustainability of
the RD plan/strategy
19. Amount of public funds allocated to the RD plan/strategy
20. Specific public funds allocated for RD research
21. Public funds specifically allocated for RD research actions/projects
per year since the plan
started
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12. EU Supporting Action Rare Diseases 2015
 Early Diagnosis
 Orphanet Database of 6000 rare diseases
 European Reference Networks (ERNs), foreseen in the
Directive on Patients’ Rights in Cross-border Healthcare.
 European Research
 Budget of € 62 million for new therapies for rare diseases
 Co-funding E-RARE-3: strengthen collaboration EU countries
 International Rare Disease Research Consortium
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13. EU Supporting Action Rare Diseases 2015
 Incentivising Pharmaceutical Companies
 2000 EU Regulation on Orphan Medicinal Products
 112 Orphan Drugs EMA authorized; 1132 Orphan designations
(drugs under research and development)
 European Platform: RD Registration
 Central hub for all registry data on rare diseases
 Improve data comparability, reliability and harmonisation
 Include national, regional, local registry holders, research
institutes, hospitals, patients’ organisations, and
pharmaceutical companies
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14. EU Supporting Action Rare Diseases 2015
 Helping Patient Organizations
 EU Operating Grant to EURORDIS
 Advocacy, support for research and medicines development,
facilitating networking, raising awareness
 Support Member States’ Efforts
 EUROPLAN and Joint Action co-funded by EU
 Gathering Expert Advice
 Policy, monitoring and evaluation, expertise exchange
 Projects
 2nd Health Programme: 30 projects funded
 3rd Programme (2014-20) continue project funding
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15. Drug Information Associationwww.diahome.org 15

16. CORD Advocates for Orphan Drugs
 2006: CORD drafts Orphan Drug Policy position
 2007: CORD hosts conference with international
speakers to advocate for Orphan Drug Policy
 2008-12: CORD hosts conferences and workshops,
lobbies politicians, promotes public dialogue
 2012: CORD leads multi-stakeholder collaboration
on Canadian Rare Disease Strategy
 2014: CORD presents Canadian Framework for
Rare Disease Strategy
 2014: CORD hosts Summit on Access Framework
6 September 2014CORD Brief History
16

17. Why Framework for Canadian Strategy
for Rare Diseases
 Rare diseases affect 8% of population, representing a diversity of
conditions and broad range of symptoms. Many are life threatening,
chronically debilitating, and progressive. About 50% are children.
1. Canadians with rare diseases have a right to the same access to care,
treatment and support as those with more common conditions.
2. We are all at risk for rare disorders, even if there is no known history in
our families.
3. “Common” disorders like cancer and heart disease with genetic
variations, can be treated much more effectively like a rare disorder.
4. We are currently spending a lot of time and money without getting much
benefit.

18. Preparatory Work
 Work to develop a framework began following a two-day conference in
November 2013.
 Patients, families, advocates, clinicians, academic researchers, industry,
regulators, and current and former policy-makers.
 International examples of how different countries have approached rare
diseases and the inequities often associated with them were presented.
 Proposed elements and themes that emerged from them formed the
foundation for the framework.
 For each theme, a multi-stakeholder working group was assembled.
 A series of small group discussions were also held,
 Regional consultations on this framework will take place in 6 cities
across Canada.

19. Participants
 Etienne Richer, CIHR
 Tania Stafinski, U of Alberta
 Jared Rhines, Rx&D
 Alex MacKenzie, CHEO
 Julie Edwards, Genome
Canada
 Mark Lundie, Pfizer
 Cate McCready, BIOTECanada
 Ron Boch, BIOTECanada
 Alex MacKenzie, CHEO
 Tania Stafinski, U of Alberta
 Jacques Michaud, Ste-Justine
 Brett Thombs, U of McGill
 Isabel Jordan, RD Foundation
 David Page, Canadian
 Hemophilia Society
 George Wyatt, Wyatt Health
 Wayne Critchley, CORD
 Durhane Wong-Rieger, CORD
 Jared Rhines, Rx&D
 Cheryl Greenberg, Winnipeg

20. Goals of Canadian Strategy
1. Widespread public awareness of rare diseases and their impact
2. An environment that recognizes diversity of rare diseases and is
responsive to wide-ranging needs of those living with them
3. Prevention and early detection of RDs are public health goals
4. Communities resourced to provide support to individuals with rare
diseases and their loved ones
5. Timely, equitable access to seamless care is available to all
6. All decisions informed by the best available evidence,
7. Sustainable mechanisms for providing access to promising therapies
for rare diseases are implemented
8. Canada is a world leader in enabling and fostering innovative research
around the prevention, diagnosis and management of rare diseases

21. GOAL 1: Public awareness of RD and impact
 Increased awareness would have widespread impact far
beyond those living with or at risk for a rare disease.
 Public awareness must be matched by awareness in the
healthcare community as well as work, social, and political
arenas.
 Definition that combines prevalence (<1 in 2,000) with
severity (life threatening, chronically debilitating, and no
effective treatment options).
 An inventory is critical first step in planning initiatives that
raise public awareness and support actions.
 Lack of awareness also means few patient organizations.

22. GOAL 2: Recognize diversity and wide-ranging needs
 While many are genetic, some have been linked to other factors,
such as environmental exposures and viruses or allergic
reactions.
 There needs to be a shift in the approach used to plan and deliver
services, with the unique needs of individuals, rather than
populations, at the core.
 Those with rare conditions are disadvantaged under existing
policies and programs.
 What is called for here is a person-centred approach, which is not
unique to rare diseases, and indeed is increasingly recognized as
the right way to plan and provide individualized services across
all sectors, including health, education and social support.

23. GOAL 3: Prevention & early detection rare diseases
 Approximately 80% of rare diseases are genetic.
 There are many diseases that we can now prevent or detect early enough to
reduce the impact or even reverse symptoms.
 For those diseases with no known genetic link, the tasks of prevention and early
detection are no less important but considerably less clear.
 For rare diseases with effective therapeutic options, early detection can
significantly impact health outcomes.
 Access to high quality educational material and advice on the importance of
screening is needed to ensure parents have the opportunity to make an
informed decision.
 value of making diagnostic guidelines available to family physicians and
pediatricians and linking them to appropriate centers of reference and
expertise.
 Collecting information in a centralized manner could provide valuable insights
into the identification and of progression of these diseases.

24. GOAL 4: Communities resourced to provide
social support
 Newly diagnosed individuals look for patient organizations or
communities, websites with information about the disease, and other
online resources.
 Resources for rare diseases: a minority (15%) are “bricks and mortars”
operations. About ¾ founded by a patient or family member; more
than half are volunteer-based
 Most identify support/information, advocacy, and fundraising (for
research) as mandate
 Less than 10% get financial support from drug manufacturers.
 Patient communities play an important role in the identification of
needs beyond medical care.
 Very little public funding for not-for-profit patient organizations.
 An effective Canadian Strategy for Rare Diseases should contribute to
developing the capacity of nonprofit patient groups.

25. Goal 5: Timely, equitable access to seamless care
 Few professionals are equipped with the skills needed to manage rare
diseases.
 Patients find themselves on a convoluted path that involves referrals to
and from several specialists, countless medical visits and procedures,
 Challenges in navigating a new health care system as they transition
from pediatric to adult-based care programs.
 Implications of differential access to health care services have greater
impact given the scarcity of treatment options that modify disease
progression.
 Need for panCanadian Centres of Excellence, for panCanadian
standards and guidelines for diagnosis, treatment and care, for
panCanadian access to therapies, and for panCanadian support services
is paramount.

26. GOAL 6: Decisions are informed by the best
available evidence
 Innovative approaches to generating evidence for decision-
making around rare diseases are required.
 That information needs to include not only routinely
collected clinical data, but also the views and experiences of
patients.
 Patient and family perceptions contribute to designing
clinical trials, defining outcomes relevant to patients,
deciding the balance of benefits and risks for regulatory
approval, prioritizing therapeutic options, and setting the
criteria starting, monitoring, and even stopping access.

27. GOAL 7: Sustainable mechanisms for providing
access to promising therapies
 Referred to as “progressive licensing” or “adaptive licensing”, they
provide a pathway for access to promising therapies for what are often
debilitating or life-threatening conditions while reducing the risk of
harm to future patients
 From perspective of payers, coverage decisions on therapies for rare
diseases come with considerable risk
 In reality, discrepancy between a patient’s desire to access a new
therapy and a payer’s willingness to pay may reflect more than
perceived value of patient well being.
 Need for coverage policy options that allow access based on continued
demonstration of benefit
 “Managed access” policy acceptable to all stakeholders; require
collaborative negotiated approach to ensure appropriate, responsible,
sustainable access.

28. GOAL 8: World leader in enabling and fostering innovative
research around prevention, diagnosis and management
 Canada’s rare disease research community is comprised of
dedicated academic groups across the country
 Research that spans pre-clinical, clinical and policy areas, and
their strengths are impressive
 Learnings from research in one disease may forward thinking
around another disease
 Participation in clinical trials is a critical component of care
 Canada lacks infrastructure, expertise, and policies needed to
move Canada to that level
 Funding for a Canadian Strategy for Rare Diseases requires
dedicated support for a coordinated, multidisciplinary, and
multi-stakeholder research program.

29. CORD ARCTIC QUEST—August 2011
What can people with rare disorders do?
Anything!
6 September 2014CORD Brief History
29

30. Thank You!
Nov 2010USA CA EU Access to OD
30
Durhane Wong-Rieger, PhD
President
Canadian Organization for Rare Disorders
www.raredisorders.ca
416-969-7435
durhane@sympatico.ca