Rare Disease Patient Registries: Key to Drug Development and Access Tuesday, May 3 @ 12:00 – 1:00 pm EDT Slides: USA National Institutes of Health RaDaR NORD IAMRARE (Pam Gavin, VP) Canada INFORM RARE (Beth Potter, CHEO; Pranesh Chakraborty, CHEO; Kim Angel, Can MPS Society; John Adams, CanPKU)

1. SPRING 2022
WEBINAR
SERIES
Planning SMART

2. MAY 3
12 - 1 PM
The government of Canada has committed $1 billion to set up Canada’s Rare Disease
Drug Strategy. The rare disease community, under the leadership of the Canadian
Organization for Rare Disorders, has called for the implementation of a SMART Rare
Drug Strategy as part of Canada’s SMART Rare Disease System that will address the
challenges of access today and carry us into the future to provide FAST access to
medicines that will also stimulate investment in innovation that will deliver best health
outcomes, research and development, and sustainable public health, economic
growth, and societal benefits.
As continuation to two years of public consultation, CORD has launched a six-session
consultation on a SMART Rare Disease Drug Strategy and System. Webinar 3 focuses
on the important roles of Patient Registries in creating a knowledge base for rare
disease and also supporting research and development, including access to clinical
trials and collecting patient outcomes data. In Canada, disease-specific patient
registries, managed by specialty clinics in collaboration with treaters and patient
organizations, are ideally positioned to be a key component in a Canadian Network of
Rare Disease Centres of Excellence and a patient platform for optimal drug
management in a Canadian Rare Disease Drug Strategy.
The Webinar will feature presentations on three programs: . An expert multi-
stakeholder panel will consider how learnings from other countries can be applied in
Canada (or not) and deliberate on a plan of action to implement toward establishment
of a Canadian Network for Rare Disease Centres of Excellence, especially as a
foundation for the Rare Drug Strategy.
Rare Disease Patient Registries:
Key to Drug Development and
Access

3. PRESENTERS/
PANELISTS
The Webinar will feature presentations on three programs: . An expert multi-stakeholder panel
will consider how learnings from other countries can be applied in Canada (or not) and deliberate
on a plan of action to implement toward establishment of a Canadian Network for Rare Disease
Centres of Excellence, especially as a foundation for the Rare Drug Strategy.
Presenters Panelists
Three patient registries and their use in patient management and research and development will
be presented. Additionally, presenters will discuss ethical issues and best practices re:
patient/family engagement, data ownership and informed consent, data management and
utilization including transparency, security, and sharing.
• USA National Institutes of Health RaDaR (Presenter TBC)
• NORD IAMRARE (Pam Gavin, NORD)
• Canada INFORM RARE (Beth Potter, CHEO; Pranesh Chakraborty, CHEO; Kim Angel,
Canadian MPS Society; John Adams, CanPKU)
Panelists
A panel of representatives of disease-specific patient registries will discuss their initiatives and
comment on steps forward
• Nicola Worsfold, Defeat Duchenne Canada
• Victoria Hodgkinson, Canadian Neuromuscular Disease Registry
• John Wallenburg, Cystic Fibrosis Canada
Moderators
• Bill Dempster, 3Sixty Public Affairs
• Durhane Wong-Rieger, CORD

4. UPCOMING
WEBINARS
MAY 5
12 - 2 pm
Rare Disease
Centres of
Excellence: Linchpin
to patients,
community care,
and collaboration
MAY 19
12 - 1 pm
Leave No One
Behind
MAY 26
12 - 1 pm
Economic Case
for Rare and
Innovative
Research

5. CONFERENCE
JUNE 8 - 9, 2022
Ottawa Marriott Hotel
Building Canada’s SMART Rare
Disease and Rare Drug System

6. Why Rare
Disease Patient
Registries?
• Empowering rare disease patient communities
• Promote personalized and therapeutic interventions
• Facilitate rare disease therapeutic development
• Support public health and clinical research
• Facilitate service planning by analyses and reporting of relevant data
• Enable research by providing de-identified data to researchers
• Promote and disseminate new knowledge to inform best clinical practice
and care
• Identify and recruit volunteers for clinical trials (clinical trial ready)
• Seamless integration with Clinical Trial Registries
Could one registry system perform many or all these roles?

7. What Data?
What Uses?
Clinical
• Tracking therapies
• Clinical significant endpoints
Patient advocacy - Patient-centric collecting data:
• Quality of life
• Impact to families and carers
Government
• Health economic
• Subsidies and cost effective products
• Reducing variability in healthcare
Industry
• Clinical trial design and outcome measures (PROs)
• Cost effectiveness of outcomes of treatments over time
Academic
• Natural history of disease
• Discovery and innovation
• Clinical trials
Could one registry system perform many or all these roles?

8. Registries Connect Patient
Communities with
Researchers
RaDaR provides step-by-
step guidance and tools
for building registries
based on good data
practices

9. rarediseases.org
National Organization for Rare Disorders | rarediseases.org
Rare Disease Patient Registries:
Key to Drug Development and Access
CORD Spring 2022 Webinar Series
Pam Gavin, Executive Vice President

10. NORD, a 501(c)(3) organization, is a patient
advocacy organization dedicated to individuals
with rare diseases and the organizations that
serve them. NORD, along with its more than
330 patient organization members, is committed
to the identification, treatment, and cure of rare
disorders through programs of education,
advocacy, research, and patient services.
NORD® MISSION STATEMENT
rarediseases.org 2

11. IAMRARE™
A patient centric research study
program designed to enable multi-
stakeholder rare disease research
collaborations to accelerate therapy
development.

12. rarediseases.org 4
The Power of Natural History Studies in Rare Disease Research
• 360° view of disease characterization
• Accelerate understanding of conditions and
commercial/research interest; inform the design of trials
• Encourage greater representation in study samples - steps
toward more equitable and inclusive study designs
• Efficient, effective use of resources

13. rarediseases.org 5
IAMRARE Program Growth
Since 2014 Launch
• 40+ rare conditions
• 13,000+ participants
• 127,000+ survey
submissions

14. rarediseases.org 6
Supporting Multiple Roles & Consenting Models

15. rarediseases.org 7
User Customizations
Language Preference

16. rarediseases.org 8
Supporting Multiple Languages

17. rarediseases.org 9
Study Curator Task List

18. rarediseases.org 10
Robust Graphing & Data Visualizations

19. rarediseases.org 11
User-Friendly Reporting

20. rarediseases.org 12
Study Management Dashboard

21. rarediseases.org 13
Governance & Compliance
13
Governance
• Ethics/Institutional Review Board (IRB)
• Community IRB partner
• Study ethics
• Study submissions
• Consent
• Informed and transparent
• Voluntary
• Comprehension checks
• Ability to withdraw from study
Compliance
• Privacy
• Study-specific access
• De-identified data
• Encryption
• Data sharing process
• Secure data transfer
• Auditing
• Emails
• Consent
• Transfer
• Data Curation

22. rarediseases.org 14
Cohort Registry On-Boarding
Month 7
Prep. for Registry
Advisory Board
Meeting:
Overview of
NORD Core
Surveys
Prep. of Protocol and
Consent
Survey Development;
Review of Protocol and
Consent
Month 3
Month1 Month 2 Month 4 Month 5 Month 6 2020
Month 9
Month
8
2018
Testing and Updates
of Registry;
Submission to Ethics
Review Board
ERB Response; Training
on Registry Platform;
Launching Registry
(Soft and Final)
Building Registry/Study
Testing and Updates to Registry

23. 15
IAMRARE Research Implementation Team
Stephanie
Christopher,
MA, CCRC
NORD registry
team manager
Experienced
patient
engagement
expert and
clinical
researcher
Kristen Gygi
Technical lead
for data
dictionary
development
Registry testing,
quality
assessment and
implementation
Janet Mauro,
CCRC
Research
Programs
Reg. Affairs/
IRB Lead
Clinical trial
researcher
Guidance with
regulatory
document
development
Liz Winter,
MPH, CPH,
CHES
Registry
client support
Experienced
public health
researcher
Support for
protocol
development
Kyra Krass,
PhD
Registry client
support
Experienced
psychology
researcher
Support
technical
development
of data
dictionaries
Kristen Rice,
MPH
Registry
client support
Research
grant support
Experienced
Public Health
researcher
and clinical
research
coordinator

24. Thank you.
16
rarediseases.org

25. Canadian Metabolic Patient Registries
May 3, 2022
CORD Webinar: Rare Disease Patient Registries:
Key to Drug Development and Access
1

26. Overview: how we arrived here
2
The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) → INFORM RARE perspective
• Large set of inherited diseases; there are specific treatments for many
• CIMDRN experience with longitudinal data collection for rare inherited metabolic diseases (lessons learned re: data quality, sustainability)
• Core outcome set for PKU – importance of patient/family perspectives
• INFORM RARE – registries to support registry-based randomized trials, partnerships established with patient organizations → NORD
CanPKU perspective
• No existing registry for PKU in Canada
• Recognized value of a comprehensive registry that is independent of specific drug development
• CanPKU was part of CIMDRN’s earlier work including the PKU core outcome set project
• Registry to start as pediatric but expansion to adults is a high priority for CanPKU
Canadian MPS Society perspective
• No existing registry for MPS in Canada
• A comprehensive patient registry has been a longstanding goal for the organization: need for accurate data on the MPS patient population
• Expansion to adult population is also a high priority for the Canadian MPS Society
Partnership (CanPKU, Canadian MPS Society, and INFORM RARE via the Children’s Hospital of Eastern Ontario Research Institute):
• The Canadian PKU Registry
• The Canadian MPS Registry

27. Values underpinning registry development
3
Sustainability Accessibility Scalability Public Benefit
Benefits to
patients &
their families
Building
research
capacity
Long-term use &
maintains relevance
Accessible to different
networks, organizations
and individuals
Addition of other
disease groups
Commit to using the
registry as a public good
Direct data access, contact
for research opportunities
Patient and clinician-
informed research capacity

28. 4
Governance
Registry Steering Committee
Canadian Metabolic Registries
= contract
= central stakeholders responsible for
the registries
LEGEND
Patient Organizations
Patient
Organizations
CanPKU & CanMPS
Collaborative
research and
usage
agreement
Collaborative
research and
usage
agreement
Registry Platform
Developers
NORD
Hospitals/clinics Canadian Metabolic Patient Registries
Service
agreement
Data
Sharing
agreement
Data
Sharing
agreement
Data
Sharing
agreement
Hospitals/clinics
Hospitals/clinics
Funds transfer
agreement
Funds transfer
agreement
Funds transfer
agreement
Funding partners
= data entry into the registry and
registry data use
Funds transfer
agreement
Funds transfer
agreement
Funds transfer
agreement
Funds transfer
agreement
Clinicians
Patients/families
= registry specific fund-transfer contract
from ‘funding partners’ to ‘patient
organization’
Informed consent
(clinical and patient-
reported data
contribution)*
* data contribution, having data contributed on a patient's behalf and data sharing
Funding partners
Funding partners
Academic Hospital
Research Institute
"Registry Coordinating
Centre/Data Custodian”
CHEO Research Institute

29. Participants
5
• Recruitment through patient organizations, social media, and eventually through metabolic clinics
• Consent/assent process based on age:
o Enroll and contribute data to the registry
o Be contacted about related research
o Options re: sharing of de-identified data
• Eligibility criteria :
o Confirmed diagnosis of inherited metabolic disease (PKU or MPS)
o Aged 18 years or younger (although we are starting with pediatric patients, we expect to expand the
registry to include adult patients in the future)
o Receiving disease-specific health care in Canada

30. Data collection and storage, timelines
6
Data Variables & Collection
• Data variables – informed by core outcome sets (completed for PKU, in development for MPS)
• Data collection
• patient/caregiver-reported (phase 1)
• clinician contributed (phase 2)
Data storage
• NORD platform, stored on Canadian servers
• Children’s Hospital of Eastern Ontario Research Institute as data custodian
Timelines
• Phase 1: summer 2022
• Phase 2: 2023

31. Patient and family engagement
Co-PI for Patient
Engagement
Patient Partner
Co-Investigators
Parent Advisory Group
+ Youth Facilitator
Youth Advisory Group
Research team
+ Special Advisor
• Patient and family partnership and engagement: essential to ensure the registries are patient-oriented and to build
future capacity
• Patient organizations: outreach to their membership communities
• INFORM RARE: patient partner investigators, parent advisors, youth advisors (e.g., reviewing consent forms and
registry enrollment process, participating in decisions about data collection)

32. Summary of key messages
8
• Registries are being co-developed and operated through the partnership of patient organizations and
academic/clinical researchers
• Registries that respond to patient and family priorities
• Sustainability (academic coordinating centre could change while maintaining registry)
• Data custodianship in a hospital research institute: capacity for integration of patient/family- and
clinician-contributed data
• NORD platform: Data stored in Canada, respectful of Canadian landscape and laws
• Strong patient and family engagement strategy: important for capacity-building and ongoing relevance to
the community