This document discusses strategies to improve access to drugs for rare diseases in Canada. It proposes establishing Centres of Expertise across the country to provide coordinated rare disease services. It also recommends creating a national rare disease research network and an accelerated drug access pathway. This would involve concurrent regulatory review and managed access programs to provide early access to drugs while collecting additional evidence. The goal is to deliver on the promise of value-based access to rare disease treatments for Canadians.

1. Delivering on Canada’s
Promise of Value-Based
Access to Drugs for Rare
Diseases:
Accelerated Drug Access
Pathway + Centres of Expertise +
Research Network + Rare
Disease Strategies
Durhane Wong-Rieger
François Bernier
Stephen Parrott
William Dempster

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. 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

4. 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%

5. 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.

6. A comparative analysis of public reimbursement of orphan drugs approved by EMA from
Jan 2015 – Mar 2020
Ward, L.M. et al. Orphanet J Rare Dis 17, 113 (2022). https://doi.org/10.1186/s13023-
022-02260-6
6

7. A comparative analysis of
public reimbursement of
orphan drugs approved by
EMA from Jan 2015 – Mar
2020
Ward, L.M. et al. Orphanet J Rare Dis 17, 113 (2022). https://doi.org/10.1186/s13023-022-02260-6
7

8. Burden of Rare Disease with and w/o Treatment
The Burden of Rare Diseases: An Economic Evaluation, Chiesi Global
Pedro Andreu, PhD; Jenny Karam, PharmD; Caroline Child, BSc; Giacomo
Chiesi, MBA; Gina Cioffi, JD

9. Burden of Rare Disease with and w/o Treatment
The Burden of Rare Diseases: An Economic Evaluation, Chiesi Global
Pedro Andreu, PhD; Jenny Karam, PharmD; Caroline Child, BSc; Giacomo
Chiesi, MBA; Gina Cioffi, JD

10. 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

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. Canadian
families living
with rare
disease
Timely
Diagnosis
Best
Practices for
Holistic Care
and Support
Access to
Innovative
therapies
Research
Capacity
Building
Care
Transform the diagnosis,
treatment, and holistic care
of RD.
Integrate a precision health
approach that imbeds
research, care, and capacity
building.
Address medical and social
needs of families living with
RD
Centres of RD Expertise

14. Pillars
Programs
Deep Human
Phenotyping
Undiagnosed Disease
Program (UDP)
Diagnostics & Registries Holistic Care & Support
Family & Community
Centered Care & Support
Care Management
Innovative Therapies
Clinical Trials
Preclinical Pipeline for
novel therapies (incl
non-pharmacological)
Centres of RD Expertise
Outcomes Optimized path to diagnosis
Novel insight into etiology
New therapy targets
Novel therapies New health technologies and tools
More clinical trials
Improved health and wellness
Research excellence
Strategies that benefit families and communities
Innovation & Commercialization
Patient Engagement, Data, Capacity Building & Knowledge Mobilization, EDI
Serve as Model
Research (Basic, Clinical, and Applied) and Quality Improvement
Care
Enabling Timely
Diagnostics
Enabling Access to
Treatment
Enabling Best Practices
Outputs
Access to therapies
Next generation of clinicians & researchers
Improved clinical trial capacity
Improved care guidelines
Drug Access
Pathway

15. Precision Diagnostics and Registries
(in adults and children)
Holistic Care & Support
(in adults and children)
Innovative Therapies
(in adults and children)
Pillar Groups
Knowledge Mobilization
Guidelines & Pathways
Education & Training
Data/Informatics
Outcomes/ Evaluation
Regulatory
Working Groups
Steering Committee
Chaired by Secretariat, representative of the pillar and working groups,
and 2 patient/PAG representatives
Secretariat
Network Coordinator, HCP and research representative, PAG
Advisory Committee
National and global experts from across
healthcare, research, PAG, policy, industry
Network
Coordination
Team
Network
Coordinator, Project
Manager,
Communications
and other support
staff, etc
Drug Access Committee
Ad-hoc
Committees/
Working
Groups
Research, HCP and other experts as
well as patients contributing to groups
EDI

16. 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

17. Ontario
• 2017 Working Group Report –
based on CORD Rare Disease
Strategy
• Life Sciences Ontario Vision Paper
in fall 2021
• Health Minister has expressed
support for rare disease strategy
• NDP tabled private member’s bill
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
https://publications.msss.gouv.qc.ca/msss/fichiers/2022/22-916-01W.pdf
Quebec
Roles for emerging provincial RD strategies

18. Discussion / Q&A