Megan O’Boyle megan@pmsf.org

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

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?

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

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

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

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.

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

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?

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?

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

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

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

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)

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)

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

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

Participant Countries - 39

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

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

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

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

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

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

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.”)

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!

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