1. Megan O’Boyle

2. From Registries to Research: Creating a Resource that Empowers Families and Facilitates Research
Megan Lynch O’Boyle
“Shannon’s Mom”
Registry Coordinator for
Phelan-McDermid Syndrome International Registry

3. Presentation Overview
What is a patient registry?
Who can create a registry?
What is the value of a patient registry stakeholders?
Patients, physicians, researchers, pharmaceutical industry?
How did we create a patient registry?
What does our registry look like?
Why did we create a patient registry?
What did we accomplish?
Lessons learned from the PMSIRegistry?

4. What is a patient registry?
Data Base
Range in detail of data collected
Vary in who inputs the data
Different uses or purposes
Varying degrees of value
Cost varies widely
Data Bases: from crude to sophisticated programming and encryption
Details: from contact info (names & address) to very specific details re: genetic data, medications, test results, etc.
Input: from Patient/parent reported to clinician/researcher reported
Purpose: Contact registry, clinical trial recruitment based on medical symptoms, to use for research publications
Value: depends on the design, implementation the demand
Cost: minimal for Excel database to expensive for industry registry

5. Who can create a patient registry?
Researchers /Clinics
Pharmaceutical Companies
Patient Support Groups

6. What advantages do patient groups have by creating their own registry?
Contact information
Trust of their members
Consent to be re-contacted
Ability to inform and recruit patients
Means of communications:
Social Media
Newsletters

7. Why a patient group sponsored registry?
Decrease patient survey fatigue
Data can be shared with more researchers faster for less $
Increase in researcher access to data
Researcher can post Q&A on the PMSIR registry faster and for less
Decreases patient fatigue since the data is collected in one place and shared. Patients do not have to continually answer the same questions for multiple researchers.
Increase in researcher access to data since data is shared with researchers worldwide, in all areas of research instead of one researcher or one institute in one area of research.
Researcher can post Q&A on the PMSIR registry and PMSIR will “protect” the collected data for a set time or until publication.

8. Who gets what? Patient Support Group gets… Researchers get …
Info about the condition
Researchers get …
Data about the patients
Pharmaceutical companies get …
Data to improve selection of appropriate candidates for clinical trials

9. Has the patient ever had non-febrile seizures?
Value to families ….
Returning Data to patients/families is
VERY informative to them!
Has the patient ever had non-febrile seizures?

10. Value to families ….
Retuning data to patients/families is very helpful in improving the care and safety of the patient
What is the patient’s pain tolerance?

11. Cross-Disease Analysis: example: PMS & Dup15q Registries
Value to researchers…
Cross-Disease Analysis: example: PMS & Dup15q Registries
Example: Developmental Regression
Regression
Dup15q
PMS
Cognitive regression 65 62
Seizure-Related Regression
Motor skills 30 18
Complex skills 15 7
Speech 9
* Courtesy of the PMS Foundation & Dup15q International Alliance

12. Value to researchers… Get data from more patients Get data faster
Get data for less $$ (saved funds can be spent on more studies)
Be able to re-contact patients through support group
See data that may not have been of interest but becomes valuable

13. How did we accomplish what others said we couldn’t?
Found the right vendor
Compiled potential Q&A
Consulted with researchers about the Q&A
Created necessary documents: Informed Consent, IRB protocol, marketing materials, etc. (with the help of outside advisers)
Beta tested
Marketed
Returned data to patients/families whenever possible
Will re-access the registry after 2 years and change as needed

14. What is the PMSIRegitry?
PMS International Registry…
Collects contact info (for foundation use only)
Collects Genetic Reports (curated/de-identified by a trained genetic counselor)
Asks 100 clinical (medical) questions (organized by organ)
Asks 100 developmental questions
Asks 100 additional questions submitted by a researcher (data will be “protected” for one year then it will become part of the data available to the entire research community)

15. Why did we put our limited time & resources into building a patient registry?
Better characterize syndrome
Educate and empower families
Improve diagnosis and clinical care
Provide data for pre-clinical and clinical research
Identify cohorts
Facilitate recruitment & reduce enrollment lag
Connect families to research opportunities
Collecting patient contact information (for communications and recruitment)

16. What did we accomplish? In less than 2 years the PMSIR has…
Registered 570+ patients of known 900 foundation (diagnosed) members worldwide (65% of known diagnosed)
Translated the registry into 3 additional languages
Posted 100 additional questions from a researcher
Gained attention of the research community
Registrants from 39 countries

17. Without having the family support (PMS Foundation) we would not have been able to accomplish what we did

18. Participant Countries - 39

19. When is the right time to start a patient registry?
Now!
If resources are limited use a “no-cost to patient group” registry
If you don’t know where to start ask for help

20. Patients are motivated participants
Understanding needs, experiences and barriers is crucial
Voluntary enrollment and participation
Mutual benefit to patients, researchers, advocacy groups, sponsors, and government agencies

21. What we’ve learned… Patients/families have limited time:
Short, specific surveys are best
Ability to go back to finish is preferred
Too many questions can be overwhelming
Parents can’t remember answers and that makes them feel like “bad” parents
If the first experience took too long then they are less likely to update annually – diminishing the longitudinal data

22. Survey Design – Shorter Surveys
What we’ve learned…
Survey Design – Shorter Surveys
* Courtesy of the Phelan-McDermid Syndrome Foundation

23. Survey Design – Multiple Survey Sessions
What we’ve learned…
Survey Design – Multiple Survey Sessions
* Courtesy of the Phelan-McDermid Syndrome Foundation

24. What we’ve learned…
Participating in the registry empowers parents/families.
Families are using PMSIR to inform their physicians about the syndrome and specific conditions

25. So what?
Why do you care if our little group was successful at collecting data?
If we can do it you can do it!
You can get started with limited funding.
The outcomes from a registry are not just for research publications – they will contribute to improving the quality of life for the patient and the family.
Once you collect the data the researchers will come looking for it! (“Build it and they will come.”)

26. You can’t improve on something if you never start it!
Play well with others…
Collaboration is key! Families, researchers and clinicians must remember that the patient’s best interest is the most important end point.
Parent reported data has value! It is not less accurate or less valuable than clinician reported data.
Data leads to evidence-based decisions whether the issue is sleep patterns, genetic abnormalities or the success of educational approaches.
You can’t improve on something if you never start it!

27. Thank you Phelan-McDermid Syndrome Families Worldwide
Autism Speaks – Andy Shih & Amy Daniels
Geraldine Leader & Patricia Walsh – NUI Galway
Vanessa Miller – Patient Crossroads
Elizabeth Horn – PMSIR Adviser
Kadi Luchsinger - Dup 15q Alliance
Andy Faucett – Geisinger Health System / VIP Connect