1. Connecting the dots: Understanding
Patient Empowerment, Inclusion,
and the Landscape of Patient-
Developed Registries
Sophia Zilber, Cure Mito Foundation
September 14, 2023
Mitochondria-Related Drug Development Summit
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2. Cure Mito Foundation
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Our mission is to unite the global Leigh syndrome community to accelerate patient-centered research,
treatments, and cures.

3. Agenda
• Leigh syndrome patient registry developed by the Cure Mito
foundation
• Patient engagement, empowerment and inclusion
• What is Cure Mito Foundation doing to empower patients?
• What can YOU do?
• Q&A
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4. “I didn’t know when all of this started that we would enroll in a bunch of natural history studies, and
trials, and genetic studies, that were all not going to be coordinated. I thought the data would be
shared. I thought it would be used to understand patient journeys, how does a child go from being
healthy to progressing in this disease state, …how we were going to use that data [to help] the next
generation of ‘Savannah’s’. We learned from trial and error that these trials were uncoordinated, and
that Savannah was just another specimen in these uncoordinated studies… The system that was
supposed to be helping us was actually hurting us. We were learning very little about her disease…it
was not a learning system, it was a box-checking system.”
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Dr. Tracy Dixon-Salazar, PhD, neuroscientist, geneticist, and
parent to Savannah, a patient living with Lennox-
Gastaut Syndrome.
Reference: Denton, N., Molloy, M., Charleston, S. et al. Data silos are undermining drug development and failing rare disease patients. Orphanet J Rare
Dis 16, 161 (2021). https://doi.org/10.1186/s13023-021-01806-4

5. Leigh syndrome global patient registry
Launched by Cure
Mito Foundation in
September 2021
Partnership with
Coordination of Rare
Diseases at Sanford (CoRDS) -
100+ patient groups, 2000+
rare diseases
Global registry, ~ 300
participants, 35+
countries
95% - diagnosis genetically
confirmed (60% diagnosed
within 1 year since
symptoms start)
Data is interoperable
with CDISC standards
(CDASH/SDTM)
Data is shared integrated into
RDCA-DAP platform by
Critical Path Institute (C-
Path)
FDA listening session
February 2023
10+ conferences, 4
posters, 2 papers (1
published, 1 in peer
review)
Data was shared with
researchers, used to share
clinical trial opportunities
multiple times
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6. What is patient engagement?
• “The meaningful involvement of patients, caregivers, clinicians, and other healthcare stakeholders
throughout the entire research process—from planning the study, to conducting the study, and
disseminating study results.” (PCORI – Patient-centered outcomes research institute)
• “Meaningful and active collaboration in governance, priority setting, conducting research and
knowledge translation” - Canadian Institutes of Health Research’s (CIHR’s)
• “Active partnership between members of the public and researchers. This means that members of
the public work alongside the research team and are actively involved in contributing to the
research process as advisers and possibly as co-researchers” - National Institute for Health and
Care Research’s
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7. Reflections on patient engagement by patient
partners: how it can go wrong
Richards, D.P., Poirier,
S., Mohabir, V. et
al. Reflections on
patient engagement by
patient partners: how it
can go wrong. Res
Involv Engagem 9, 41
(2023).
https://doi.org/10.118
6/s40900-023-00454-1
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8. Patient-Led Research Scorecards
Patient/Partner Governance: Evaluates the degree to which decision-making power and
governance is shared between patient groups and partner groups
Integration into Research Process: Evaluates the degree to which patients are involved
in every phase of the research process and key committees, including study design,
protocols, trial inclusion, analysis, and reporting.
Patient Burden: Evaluates the degree to which patient burden and associated trauma is
addressed, including accommodating patients who are dealing with illness and
symptoms, compensation for patients’ time and skills.
Research Organization Readiness: Evaluates the ability of the research organization to
engage in meaningful patient partnership. This readiness assessment allows patients
to discern the research organization’s level of collaboration and willingness to share
control.
https://cmss.org/wp-
content/uploads/2023/
01/11231_CMSS_Plybk
_Scorecards_V3.pdf
Council of Medical
Specialty Societies
(CMSS) and the
Patient-Led Research
Collaborative, funding
from PCORI (PLRC)
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9. Patient-Led Research Scorecards –
category example
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10. Patient engagement – Leigh syndrome patient registry example
“Registry developers can promote transparency by
making the registry's scientific objectives, governance,
eligibility criteria, sampling and recruitment strategies,
general operating protocol, and sources of data
available to anyone who is interested.”
Source: Gliklich RE, Dreyer NA, Leavy MB, editors. Registries for Evaluating Patient
Outcomes: A User's Guide [Internet]. 3rd edition. Rockville (MD): Agency for Healthcare
Research and Quality (US); 2014 Apr. 7, Principles of Registry Ethics, Data Ownership, and
Privacy.Available from: https://www.ncbi.nlm.nih.gov/books/NBK208620
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PHUSE working group: Best Data Practices for Rare
Disease Patient Foundations and Researchers
https://advance.phuse.global/display/WEL/Best+Data+Practices+for+Rare+Disease+
Patient+Foundations+and+Researchers

11. Patient engagement – Leigh syndrome
patient registry example - more
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Sharing results
Making it possible for the community to be
involved
Open communication at all times

12. What can YOU do?
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Get to know patient
community and work
with us
Find out how you can use
our registry to find
clinical trial participants
Learn more about our
patient registry data
Share your feedback and
suggestions with us

13. Connect!
Contact:
sophia@curemito.org
https://www.linkedin.com/in/sophiazilber/
Cure Mito Foundation
Website: www.curemito.org
LinkedIn: @cure-mito-foundation
Twitter: @cure_mito
Thank you!
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