CORD Rare Drug Conference: June 8-9, 2022 Registries and Real-World Data INFORM RARE: Beth Potter, Alexandra Wyatt, Pranesh Chakraborty, Monica Lamoureux, John Adams, Kim Angel

1. Canadian Metabolic Patient Registries
CORD Conference
Building Canada’s SMART Rare Disease and Rare Drug
System
June 8th , 2022
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2. Overview: how we arrived here
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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

3. Values underpinning registry development
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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

4. 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

5. Participants
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• 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

6. Data collection and storage, timelines
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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

7. 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)

8. Summary of key messages
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• 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