CORD 2022 Rare Disease Day Webinar Panel • Étienne Richer, Associate Scientific Director, CIHR Institute of Genetics • Thierry Lacaze-Masmonteil, Maternal, Infant, Child, Youth Research Network • Fred Little, Country Lead, Rare Disease Canada, Pfizer • Sandra Anderson, Senior Vice President, Innomar Strategies • Paul Wilton, Vice-Chair, CORD • Michelle Mujoomdar, Director, Specialty Pharmaceuticals, Health Canada

1. RARE DISEASE
DAY 2022
WEBINAR
February 24, 2022 @ 12 pm EST

3. Agenda
• How We Got Here and How Do We Get to Where We Want to Go
⚬ Why does Canada need a national Rare Disease Drug Strategy?
⚬ What is Status Quo; what has gotten better and what are priority challenges?
⚬ What are case examples of current and emerging rare therapy challenges?
⚬ What is a “Smarter Way Forward?”
• Vision and Actions
⚬ 5-, 3-, and 1-Year Vision and Objectives
⚬ Three Essential Pillars of Action: Infrastructure, Drug Supply, and Patient Engagement
• Reimagining How to Get There
⚬ What Now: How are innovative rare disease drug assessed using current pathways, agencies, tools,
hand-offs, and trade-offs?
⚬ What Next: Reimagine a “better way forward” to address uncertainties (outcomes, eligibility, system
capacity, data management), adjust timelines relative to urgency, and promote sustainability (valuation,
funding, budget impact)
⚬ Recommended Priority Actions: What are priority investments in pathways, infrastructure, capacity
building that will have impact today, next three years, and in five years

4. Panel
• Étienne Richer, Associate Scientific Director, CIHR Institute of Genetics
• Thierry Lacaze-Masmonteil, Maternal, Infant, Child, Youth Research Network
• Fred Little, Country Lead, Rare Disease Canada, Pfizer
• Sandra Anderson, Senior Vice President, Innomar Strategies
• Paul Wilton, Vice-Chair, CORD
• Michelle Mujoomdar, Director, Specialty Pharmaceuticals, Health Canada

5. Canada’s Rare Disease
Drug Strategy: Reimaging
Health for Rare & NonRare
Durhane Wong-Rieger
President & CEO
Canadian Organization for Rare Disorders

6. • Spinal Muscular Atrophy: No screening, no diagnosis, no treatment!
• Inherited retinal disease: Treatment window closes; chance to save eyesight lost.
• Hypophosphatasia/temia: Ageism lets kids can play but adults stay home!
• Cystic fibrosis: Drug by drug “trench” advocacy for public access
• FOP: Made in Canada; 1st approval in Canada…will 24 patients wait 2+ years for
access?
• Porphyria: Drug by drug “trench” advocacy for public access
• Prader Willi Syndrome: 20-years to cheap drug approved everywhere except Canada
Rare Disease Drug
Access Challenges

7. CATCH-22:
• 2006: Michael has failed kidney transplant due to rare
blood disorder (aHUS) that destroys red blood cells.
2nd transplant also failed
• 2013: Effective drug approved but rejected by CADTH
• 2016: Provinces fund drug but not for aHUS patients
who need transplant.
• Surgeon will not transplant unless Michael gets drug
• 2019: Michael finally gets approval for drug and gets on
transplant list
• 2021: Michael gets transplant and drug therapy
Michael’s ”Catch-22” for
Kidney Transplant

8. 3-year-old Spinal Muscular Atrophy Twins:
No Newborn Screening, Misdiagnosis, Lack
Timely Specialist Care, Delayed Treatment, Too
Old for Gene Therapy
Ontario Family Hopes for Access to
Sight-Saving Treatment

9. The current path to patient access is
lengthy and challenging...
...designed for pre-90s, pre-biologics, orphan
drugs, and gene therapies
…involving several distinct review agencies
with unique but overlapping mandates
…making “non-binding” recommendations or
negotiating non-binding agreements leading
to delayed or no implementation by payers
and limited patient access
…private drug plans delaying or deferring
some reimbursement decisions to mimic
public payers
IMPACT for Patients: Delayed or no access

10. 10
pCPA
negotiations
(7.6)
Average: 18.9 months from Health Canada
approval to a pCPA agreement
Health Canada
NOC
Average time pCPA negotiations take
before reaching an agreement
Average time a medicine waits
following CADTH’s
recommendation before pCPA
starts negotiations
Average time CADTH review process takes
following Health Canada’s approval
pCPA
queue*
(4.8)
pCODR source: IQVIA, Provincial Reimbursement Advisor, Vol. 22, Issue 1 (May 2019), p. 62; pCPA wait time source: PDCI Market Access, Target Pharma, Status Summary of Innovative Medicine pCPA
Negotiations as of Sep. 30, 2019 (2018 data); pCPA negotiations wait source: PDCI Market Access, Target Pharma, Status Summary of Innovative Medicine pCPA Negotiations as of Sep 30, 2019 (2018 data)
CADTH review process
(6.5 months)
Timelines are Long

11. 11
Source: (2019) Forte et al, The Current and Future Cost of Orphan Drugs in Canada (Poster).
Total 2019f
Rx Meds Expenditure
$34.3B
Private Sector
Share
$19.5B; %56.9 of
total
Public Sector
Share
$14.8B; 43.1% of
total
Drugs for Rare Diseases VERY SMALL portion of
Drug Spend

12. Canadian Public Drug Plans Fund Far
Fewer Rare Disease Drugs than Other
Developed Countries
% Drugs for Rare Diseases Funded by
Provinces Compared to EU5 (Germany, UK,
Italy, Spain, and France)
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
Germany United
Kingdom
Italy Spain France Canada -
ON
Canada -
QC
Canada -
AB
Canada -
MB
Canada -
SK
Canada -
NB
Canada -
NS
Canada -
BC
Canada -
NL
Canada -
PE
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
Germany
Denmark
United
Kingdom
Austria
Norway
Italy
Slovenia
Finland
Netherlands
Sweden
Luxembourg
Belgium
Spain
Greece
Slovakia
France
Canada
-
ON
Romania
Croatia
Canada
-
QC
Canada
-
AB
Canada
-
MB
Czech
Republic
Ireland
Canada
-
SK
Switzerland
Canada
-
NB
Canada
-
NS
Bulgaria
Cyprus
Latvia
Canada
-
BC
Lithuania
Poland
Canada
-
NL
Estonia
Hungary
Canada
-
PE

13. Canada’s Rare Drug Strategy in
Post-Pandemic World(s)
Future World 1: Back to the Future 2019 pre-Pandemic
⚬ Opportunity for RD: Innovative technology for diagnosis and treatment
⚬ Rare Drug Strategy: Boost R&D and sustain access in resource-constrained healthcare environment
Future World 2: Groundhog Day 2020=2021=2022=202x
⚬ Opportunity for RD: Parallel pathways for rare disease from research to management
⚬ Rare Drug Strategy: Investment in prevention and timely intervention, reducing premature death, unnecessary ER, ICU, and
crisis care
Future World 3: Dr. Strangelove or How I Learned to Stop Worrying and Love COVID
⚬ Opportunity for RD: Pivot from crisis-driven reactional healthcare to planned timely, and innovative technology-enabled
intervention
⚬ Rare Drug Strategy: Development and clinical trials for innovative technologies and demonstration of effectiveness and cost-
effectiveness of comprehensive solutions including precise diagnosis, targeted therapy, complementary care and monitoring
with real-world data.

14. Drivers of Healthcare Ecosystem:
Aligned or Opposing Forces?
• Innovative Technologies accelerating diagnosis, treatment, and prevention
⚬ Gene-based diagnosis and treatments, including newborn screening, genomic sequencing, precision
medicine, cell and gene therapies
⚬ Digital-enhanced care including wearables, e-health, telehealth, electronic health records and data
registries
• Health Financing of innovative technologies challenged by budget impact
⚬ Investment in health fueled by technology (prevention, well-being) vs. paying for treatment driven by
patient and HCP needs
⚬ Healthcare competing with other resource needs: among diseases, with other societal priorities, with
non-health investment opportunities

15. Rare Diseases—Increasingly Common
& Increasingly Rare
• 6,000+ Rare Diseases1
⚬ 200 added annually2
⚬ 4,000+ identified genetic cause1
⚬ 600 orphan drug approvals benefitting 30 million patients4
• Orphadata: 72% genetically caused1
⚬ 70% pediatric1
⚬ 25% due to environmental factors
⚬ 84.5% point prevalence < 1 in 1,000,0003
⚬ 80% population burden = 4.2% most common rare diseases3
⚬ Worldwide estimates 263-466 million3
Gene mutations define subsets of common diseases (mostly cancers), some with orphan drugs based
on biomarkers
1. EURORDIS. What is Rare Disease Available at https://www.eurordis.org/content/what-rare-disease Last accessed January 2022
2. Haendel M et al. How many rare diseases are there? Nat Rev Drug Discov 2020; 19:77-78
3. Wakap SN et al. Estimating cumulative point prevalence of rare diseases: analysis of Orphanet database. Eu J Human Genetics 2020; 28:165-173
4. Gabay M. The Orphan Drug Act: An Appropriate Approval Pathway for Treatments of Rare Diseases?. Hosp Pharm. 2019;54(5):283-284. doi:10.1177/0018578719867665

16. Rare Disease on Global Agenda

17. UN Declaration on Rare Disease:
Address Social, Economic, Educational, Work,
Mental Health Needs to Leave No One Behind
Inclusion & Integration is difficult and/or impossible in mainstream
educational systems.1
The whole family experiences increased impoverishment due to more
expenses related to care.1
Women experience gender inequality as persons with a rare disease and
as mothers who often become the primary caregiver.2
Young adults experience difficulties with every step of independent living,
from finding, keeping or returning to a decent work.3
There is a lack of medical expertise and a need for public awareness of
rare disease diseases.1
COVID-19 has aggravated inequalities and social exclusion.4
1. Report from Rare Disease Day Policy Event at the United Nations. Second High Level Event for the
NGO Committee for Rare Diseases. Published May 2019
2. Report for the inauguration of the NGO Committee for Rare Disease. Published February 2017
3. Patient testimonials to the RDI. Email January 2022
4. RDI Statement on COVID-19 response and recovery. Published July 2020 RDI owned photograph

18. • Improving early detection and
prevention
• Providing timely, equitable and
evidence-informed care
• Enhancing community support
• Providing sustainable access to
promising therapies
• Promoting innovative research
Canada's Rare Disease Strategy:
5 Key Pillars

19. Engaged Patients as Partners:
Multi-stakeholder, multi-level
governance, operation, and
accountability for achieving patient
outcomes and optimizing drug
spending
Optimized Rare Disease
Infrastructure: Diagnosis,
Specialist Networks, Community
Support, Therapeutic Access
Program, Research
Optimal Drug Supply: Incentives
for developing, and marketing
innovative therapies, clinical trials,
life-cycle assessment, monitoring,
and valuation, patient-focused
outcomes
All Canadians affected by rare diseases will
have timely access to the most appropriate
therapies through an integrated program with
national governance, coordination, principles,
and operational guidelines
Canada’s Rare Disease Drug Strategy
Vision Built on 3 Pillars

20. Patients as Partners: Multi-
stakeholder, multi-level
governance, operation, and
accountability for achieving patient
outcomes and optimizing drug
spending
Optimized Rare Disease
Infrastructure: Diagnosis,
Specialist Networks, Community
Support, Therapeutic Access
Program, Research
Drug Supply: Incentives for
developing, and marketing
innovative therapies, clinical trials,
life-cycle assessment, monitoring,
and valuation, patient-focused
outcomes
All Canadians affected by rare diseases will have
timely access to appropriate therapies through an
integrated program with national governance,
coordination, principles, and operational guidelines
Rare Disease Drug Strategy
5 -Year Plan
• Develop world class rare disease infrastructure
• Support innovative rare disease research and development program
• Be 1st-tier market for clinical trials and new drug launches
• Develop integrated specialty centres linked to community providers
• Refer patients to clinical trials and recommend new therapies
• Develop processes for assessment of impact on patients, health system and society
3-Year
Plan
1-Year
Plan
ALIGNMENT with Payers
RD Community Partnerships with all Stakeholders
Develop consensus on way forward for incremental learning implementation
Coalesce research on managed access, challenges, facilitators, success factors and outcomes
Discuss infrastructure to support RD Drug Program for optimal outcomes and sustainability
5-Year
Plan

21. Canada Rare Drug Strategy:
Core Components (1)
Timely, Accurate Screening and
Diagnosis
• Newborn screening in all provinces
• Next-generation diagnostic testing; state-of-
the art international labs
• Standards for pre-conception, pre-natal
genetic screening and counseling
• Consistent, comprehensive, up-to-date
genetic testing guidelines and tests
• Genetic testing linked to RD registries, expert
centers, healthcare services
Investment in Innovative Research
• Create Canadian Rare Disease Clinical Trials Network to
attract, expedite, and improve access to new therapies
• Create and support Rare Disease Patient Registries as
resource for research (e.g., etiology, natural history,
clinical trials recruitment)
• Evaluate criteria for early access to genetic and genomic
testing for potential rare genetic conditions
• Create capacity to monitor, track and evaluate patient
real-world data from electronic health records
• Conduct applied research; pilot projects toward best
practices

22. Canada Rare Drug Program:
Core Components (2)
Collaborative Canadian Network
for Rare Diseases (CCN4RD)
• Nation-wide, cross-disease, cross-
disciplinary, patient-inclusive network
(physical and virtual) to support optimal
use of Rare Disease Treatments, including
locus of Real-World Data collection and
management
• National hub within WHO-RDI
Collaborative Global Network for Rare
Diseases
Patient Value-Based Assessment for
Rare Disease Treatments (Managed
Access)
• Appropriate, consistent, transparent, and
inclusive framework and methodology for
assessing “place in therapy” of drugs and other
treatments including cell and gene therapies
• Bridging uncertainties from clinical trials and
real-world performance toward managed
access/performance-based arrangements
• Inclusive of Real-World Evidence requirements
and analysis

23. Canada Rare Drug Strategy:
Core Components (3)
Patient data: Registries and Real-
World Evidence
• Status of and best practices for patient
registries in Canada and across jurisdictions;
core and disease-specific elements; data-
sharing and privacy
• Real-world evidence as foundational element
for timely, monitored, and cost-effective
usage of RD treatments
Value-based pricing of Rare Disease
treatments
• Realistic picture of drug prices and costs in Canada
across private and public drug plans and what this should
look like
• Realistic assessment of Canadian drug prices within
OECD countries and where we want to be
• How to strike the balance of timely access, value-based
pricing, and sustainability of healthcare investment

24. Steps to Canada's Rare Drug Strategy
• Nov 2018: Modernization of drug regulatory process, Health Canada designated “regulatory
approach to drugs for rare diseases: orphan drugs.
• Nov 2018: P/T Expensive Drugs for Rare Diseases Working Group: “Supplemental Process
for managed access to specialty drugs”
• Feb 2019: Canadian government committed $1 billion to a national Rare Disease Drug
Strategy to be put in place in 2022
• Jun 2019: Pharmacare for All (Hoskins Report) recommended Rare Disease Drug program
• Sep 2020: Throne Speech commitment to Rare Disease Strategy, recognizing optimal drug
access requires accurate diagnosis, expert clinical care, supportive programs
• December 2020: CORD National consultation forum
• October 2020: Collaborative Document “Next Steps to Rare Drug Strategy”
• Jan-Mar 2021: Health Canada Consultations on Drugs for Rare Disease Strategy
• May – June 2021: CORD Rare Drug Strategy Implementation (4 session series)
• July 2021: Health Canada ”What We Heard Report”
• Jul – Aug 2021: CORD PMPRB Advocacy (3 sessions)
• Sep 2021: Health Canada 2nd Consultations on Drugs for Rare Diseases
• Dec 1-2, 2021: CORD Conference Setting up Canada’s Rare Disease Drug

25. 1. How can we assure roles for patients and patient organizations at all levels
of Rare Drug Program
2. What are criteria and process for determining which drugs should be
included in RD Drug Strategy, which drug plans should participate, and
which patients should be covered?
3. How do we determine the right pricing for optimal access and sustainability
for all stakeholders (patients, payers, industry)?
4. Would Canada benefit from an Orphan Drug Policy?
5. What are options for governance structure? Who needs to be on governing
board? What advisory boards should be implemented?
6. What structures are needed to assure transparency, consultations, access
to information, accountability
7. How we assure necessary monitoring and evaluation on measures of
relevance?
Meta Issues—Next Steps for Rare
Drug Program Implementation

26. - SAVE THE DATE -
RARE DISEASE DAY 2022
CONFERENCE
MARCH 23- 24, 2022