The document summarizes a webinar on rare diseases held on June 9th, 2023. It discusses the mandate of CORD-RQMO, which is a network of over 100 patient groups that aims to improve the lives of those with rare diseases. It outlines some of the services provided through IRARE, including information sharing and awareness raising. It also discusses challenges with drug access for rare diseases in Canada, including slow reimbursement processes and limited access and treatment for eligible patients. Finally, it announces that the federal government will invest up to $1.5 billion over 3 years in a new Rare Disease Drug Strategy to improve access to drugs and support for patients.

1. CORD-RQMO Webinar
June 9th, 2023
Durhane Wong-Rieger and Jonathan Pratt

2. Network of more than 100+ patient groups
Mission: Improve lives of all those affected by rare diseases
Mandate: Advance rare disease policy; improve screening,
diagnose and access to clinical trials and treatment; develop
patient group capacity; support research; collaborate

3. 1) Information and support service
IRARE CENTRE :
Rare Disease Information and
Support Centre
2) Share information about rare
diseases and their issues (inform &
educate)
3) Raise awareness in the general
population and in the medical
system
4) Promote research and contacts
between patients and researchers
MEMBER ASSOCIATIONS
1: Individuals who are affected
by a rare disease
2: Their caregivers
3: Patients who do not have
an association
+
+ ADVOCACY
Help people with a rare disease
to be less orphan by empowering
them in managing their disease
and participating in research.
ENGAGEMENT
INCLUSION
INTEGRITY
COLLABORATION

4. Drug Access: From Slow
Multi-Step Stairway …
...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
… to express
elevator

5. Challenge is especially acute for rare disease drugs
( f u n d i n g fo r o r p h a n d r u g s a p p ro ve d by E M A f ro m J a n 2 0 1 5 – M a r 2 0 2 0 )
Source: Ward et al. Orphanet Journal of Rare Diseases (2022) 17:113: https://doi.org/10.1186/s13023-022-02260-6
63 drugs with EMA approval and orphan designation
44 drugs with Health Canada approval
30 drugs with positive CADTH
recommendation
(20 INESSS)
24 drugs with
completed pCPA negotiation

6. Only 3 of 5 DRDs approved by FDA/EMA are submitted
to Health Canada and UP to 5 Years later
66.3%
Approved
33.7%
Rejected
Regulatory Success Rate1
Phase 3 to FDA/EMA approval
Abbreviations: FDA = Food and Drug Administration; EMA = European Medicines Agency; DRD = drug for rare disease. Sources: (1) Wong CH, et al. Estimation of clinical trial
success rates and related parameters. Biostatistics, Volume 20, Issue 2, 2019. Available here. (2) Rawson SB. Fewer new drug approvals in Canada: early indication of
unintended consequences from new PMPRB regs. 2020. Available here. (3) Canadian Organization for Rare Disorders: key facts. Available here.
Proportion of DRDs that enter
the Canadian market post-
FDA/EMA approval2,3
Y1
16%
Y2
30%
Y3
40%
Y4
50%
Y5
60%

7. Only 7 of 10 DRDs are recommended for reimbursement in
public drug plans with only 25% eligible patients treated up to
5 years later
HTA success among DRDs1,2
69.15%
Positive
30.85%
Do not list
Market penetration rates3
Y1
10%
Y2
12%
Y3
15%
Y4
20%
Y5
25%
Abbreviations: HTA = health technology assessment. Sources: (1) McCormick JI, et al. Common drug review recommendations for orphan drugs in Canada: basis of recommendations and comparison with similar reviews in
Quebec, Australia, Scotland and New Zealand. Orphanet J Rare Dis. 2018. Available here. (2) EVERSANA Analysis: Positive CADTH recommendations from 2018 to 2021. Data on File. (3) Schey C, et al . Estimating the budget
impact of orphan medicines in Europe: 2010 – 2020. Orphanet Journal of Rare Disease. 2011. Available here.

8. Abbreviations: DRD = drug for rare disease. Sources: 1. Canadian Drug Claims Database. Available here. 2. Conference Board of Canada. The
Cost of Tobacco Use in Canada, 2012. Available here. 3. Statistics Canada: Archived - Household final consumption expenditure of cannabis,
inactive (x 1,000,000). Available here. 4. Statistics Canada: Control and sale of alcoholic beverages, year ending March 31, 2020. Available here. 5.
Canadian Institute for Health Information: Health Spending. Available here.
$380M
Public
Expenditure on
DRDs1
(2020)
$1,020M
Public
Expenditure on
Drugs for
Smoking
Related Illness2
(2012)
$1,600M
Household
Cannabis3
(2018)
$24,500M
Alcohol4
(2019)
$256,000M
Public Health Spending5
(2019)
$1,601M
Projected Public
DRD
Expenditure
(2025)
Public Rare Disease Drug Spend … Still A Drop in the Ocean!

9. 1980 2022
USA
1983
JAPAN
1993
AUSTRALIA
1997
EUROPEAN
UNION
1999
TAIWAN
2000
SOUTH
KOREA
2003
USA & EU
Harmonization
2007
Canada?
Adoption of Orphan Drug Legislation
Canada: Impact of no orphan drug policy

10. 1. Improving early detection and
prevention
2. Providing timely, equitable and
evidence-informed care
3. Enhancing community support
4. Providing sustainable access to
promising therapies
5. Promoting innovative research
Canada’s Rare Disease Strategy (CORD - 2015) and RQMO Strategy (2017)
set the stage for where we are and where we’re going
We also know what Canadians with rare diseases want from their leaders

11. Canada “Drugs for Rare Diseases
Strategy” Announced
Up to $1.4 billion to
provinces/territories (P/Ts)
through agreements with
each P/T to help improve
access to new and
emerging drugs, as well as
support enhanced access
to existing drugs, early
diagnosis, and screening
for rare diseases
$68 million for
initiatives to
improve
consistent
access to drugs
for rare diseases
$32 million over five
years to the Canadian
Institutes of Health
Research (CIHR) to
advance rare disease
research with a focus on
developing better
diagnostic tools and
establishing a robust
Canadian rare disease
clinical trials network
$20 million over three
years to the Canadian
Agency for Drugs and
Technologies in Health
(CADTH) and the
Canadian Institute for
Health Information
(CIHI) to improve the
collection and use of
evidence to support
decision-making
$16 million over three
years to support the
establishment of
national governance
structures, such as a
Health Canada
secretariat and a
stakeholder
Implementation
Advisory Group, to
support the
implementation of the
Strategy
March 22, 2023: Federal Health Minister Duclos announced long-awaited
Rare Disease Drug Strategy - Investment of up to $1.5B over 3 years

12. Coordinated multi-disease, multi-specialty
services,
Screening, testing, and diagnostic networks,
Specific rare disease and disease cluster
networks,
Community-based rare disease networks,
Communities of practice inclusive of
GPs, pediatricians, mental health, other
healthcare and support services
Customized Value-Based Access Pathways
with early access programs, start-stop
criteria, real-world evidence, Managed-
access plans, Outcomes-based
assessment, Coverage with evidence
developing, Risk-sharing and risk-pooling
plans, Value-based assessment for RD
RD Clinical trials network,
Genetics/genomics research programs,
innovative therapeutic development
initiatives, drug and device manufacturing,
patient real-world patient data collection
and analysis, patient engagement practices,
best practice guidelines
Rare Disease
Research Network
Designated Rare Disease
Drug Access Framework
Canada’s Network of Rare
Disease Centres of Expertise
Patient Data Platform: Integrates “direct input” patient real-world outcomes measures, medical and hospital records, impacts on family, work, and mental health,
longitudinal outcomes and impact measures
Patient Engagement Platform: Comprehensive education, training, support, and liaison tools and processes to engage all patients in all levels of informed decision-
making, including individual personal decisions, patient group advocacy and support, patient submissions to regulatory reviews and assessment, patient partnership
in research (needs assessment, natural disease history, drug discovery, clinical trials, outcomes measurement, managed access and outcomes-based drug programs,
real-world data collection and analysis, affordability, and policy.
Value-Based Optimal Drug Program: 3 Pillars and 2 Platforms

13. CORD: Proposed Alternative Pathway
Early Screening and Identification of Potentially Eligible Drugs
Screen potentially eligible
drugs for the process
based on criteria for:
Health Canada review
through an expedited
pathway, and other criteria
such as severity, unmet
need, prevalence, an
uncertainties re: safety,
effectiveness, eligible
patient, long-term impact
on patients and society,,
cost per patient, budget
impact, return on
investment
Concurrent Introductory Process
Drugs that meet the
criteria targeted for
expedited Health Canada
regulatory review with
potential Notice of
Compliance with
Conditions, and set up of
Managed Access
Agreement through “best-
fit” pathway with
centralized coordinated
through Centres of
Expertise. Submissions to
pCPA, PMPRB, CADTH, and
INESSS at this time.
Managed Access Program
For drugs that treat
conditions with low
prevalence, high unmet
need, significant
improvement, and
uncertainties around
available evidence, MAPs
with criteria to start
treatment, collect
additional RWE, criteria for
continuation or stop on
individual and/or
population level
pCPA Negotiations & Implementation
For drugs meeting criteria
for MAPs, negotiate entry
price, set up centralized
coordinated MAP with lead
COE or Steering
Committee for single
start/stop protocol, RWE
platform data analysis,
and individual patient
assessment for
continuation, adjustment
or stop.
Collection & Re-
Assessment of RWE
At pre-determined time
points, RWE for population
would be evaluated and
assessed against pre-
negotiated targets.
After the reassessment,
changes to the listing criteria,
price, or de-listing would
occur, as encoded into the
negotiated drug plant at the
outset.
Components
Individual and
Population Patient
Access:
• Common process
with specific
multi-stakeholder
disease-and-drug
panel, including
clinical teams and
patients to design
individual and
population level
access with
starting criteria,
RW data, stopping
criteria
Communications:
• Multistakeholder
communications
throughout
process is
essential
Proposed Adaptation of 2018 EDRD Supplemental Process
Source: Stafinski T PRISM

14. Provincial Rare Disease Strategies
Ontario
• 2017 Working Group
Report – paused after
election
• Life Sciences Ontario
Vision Paper in fall
2021
• Health Minister has
expressed support for
rare disease strategy
More on this next!!!

15. Quebec Rare Disease Policy
https://publications.msss.gouv.qc.ca/msss/fichiers/2022/22-916-01W.pdf
AXIS #1:
Raising awareness and training of health
care professionnals
AXIS #2:
Easy and equitable access to diagnosis,
care and services
AXIS #3:
Promoting research, innovation and data
gathering
June 13, 2022

16. https://publications.msss.gouv.qc.ca/msss/fichiers/2023/23-916-02W.pdf
Highlights of the Quebec action plan for rare diseases (2023-2027)
Axis #1 : Raising awareness and training of health care
professionnals
• Designation of interdisciplinary reference centers and
regional competence centers for rare diseases
• Establishment of a national clinical navigator network for
rare diseases (NAVI-NAT) --» Guiding people living with
diagnostic wandering
• Development and implementation of awareness-raising
and teaching activities --» Promoting diagnosis and
management
• Establishment of a cooperative process between
reference centers and patient associations (Exact process
will be subject to consultation)
• Increased involvement of patient-partners in reference
centers and the research component
• Creation of training modules for doctors, professionals
and students of the RSSS (Organizations will be involved!)
• Maintenance of CCQMR activities --» Creation of
diagnostic tools
• Development of a web tool by the MSSS --» Gather
relevant information in RD
May 1, 2023

17. Highlights of the Quebec action plan for rare diseases (2023-2027)
Axis #2: Facilitated and equitable access to diagnosis,
care and services
• Revise the process for approval and adding conditions to the carrier
screening program
• Enhancement and optimization of pre-conception genetic counseling
services and prenatal diagnosis
• Recruitment of resources in foreign areas (North of Quebec)
• Reimbursement of preimplantation genetic tests
• Improve the PQDP (prenatal screening) and PQDNSU (neonatal blood
and urine screening) programs
• Study by INESSS to expand the number of diseases that could
integrate the PQDNSU and identify new technologies available
• MSSS will study the relevance of using telehealth in the care
trajectory of patients with rare diseases
• Support professional autonomy
• Reimbursement of primary dental cares
• Creation, since January 2023, of a PAQTMMH (Quebec food program
for the treatment of hereditary metabolic diseases)
• Implementation of new programs to treat hemophilia and hereditary
angioedema
• Optimization of rare disease drug approval processes (by INESSS and
other experts)
May 1, 2023
https://publications.msss.gouv.qc.ca/msss/fichiers/2023/23-916-02W.pdf

18. Highlights of the Quebec action plan for rare diseases (2023-2027)
Axis #3 : Promoting research, innovation and
data gathering
• Creation of a rare disease research network
• Establishment of a rare disease patient registry
across Quebec
• Improve knowledge transfer through the research
network (through NAVI-NAT and patient registries)
• Establishment of a provincial rare disease biobank
• Support for multidisciplinary research projects in
rare diseases (including psychosocial aspects)
• Facilitate interactions with biomedical engineering
companies (development of new technologies)
• Creation of the community of practice and
knowledge transfer (NAVI-NAT)
• Design a support program for the development of
innovation to detect, diagnose and treat (from the
laboratory to the patient)
• Integrate clinical trials into the continuum of care
May 1, 2023
https://publications.msss.gouv.qc.ca/msss/fichiers/2023/23-916-02W.pdf

19. Sign
bit.ly/PetitionRareEN

20. Discussion / Q&A