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Megan OBoyle megan@pmsf.org Slide 2 From Registries to Research: Creating a Resource that Empowers Families and Facilitates Research Megan Lynch OBoyle Shannons Mom Registry Coordinator for Phelan-McDermid Syndrome International Registry Slide 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? Slide 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 Slide 5 Who can create a patient registry? Patient Support Groups Researchers /ClinicsPharmaceutical Companies Slide 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 Slide 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 Slide 8 Who gets what? Patient Support Group gets Info about the condition Researchers get Data about the patients Pharmaceutical companies get Data to improve selection of appropriate candidates for clinical trials Slide 9 Has the patient ever had non-febrile seizures? Returning Data to patients/families is VERY informative to them! Value to families . Slide 10 Retuning data to patients/families is very helpful in improving the care and safety of the patient What is the patients pain tolerance? Value to families . Slide 11 Cross-Disease Analysis: example: PMS & Dup15q Registries RegressionDup15qPMS Cognitive regression6562 Seizure-Related RegressionDup15qPMS Motor skills3018 Complex skills157 Speech189 * Courtesy of the PMS Foundation & Dup15q International Alliance Example: Developmental Regression Value to researchers Slide 12 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 Value to researchers Slide 13 How did we accomplish what others said we couldnt? We 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 Slide 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) Slide 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) Slide 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 countrie s Slide 17 Without having the family support (PMS Foundation) we would not have been able to accomplish what we did Slide 18 Participant Countries - 39 Slide 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 dont know where to start ask for help Slide 20 Understanding needs, experiences and barriers is crucial Voluntary enrollment and participation Mutual benefit to patients, researchers, advocacy groups, sponsors, and government agencies Patients are motivated participants Slide 21 What weve 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 cant 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 Slide 22 Survey Design Shorter Surveys * Courtesy of the Phelan-McDermid Syndrome Foundation What weve learned Slide 23 Survey Design Multiple Survey Sessions * Courtesy of the Phelan-McDermid Syndrome Foundation What weve learned Slide 24 Participating in the registry empowers parents/families. Families are using PMSIR to inform their physicians about the syndrome and specific conditions Slide 25 So what? 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.) Why do you care if our little group was successful at collecting data? Slide 26 Play well with others Data leads to evidence-based decisions whether the issue is sleep patterns, genetic abnormalities or the success of educational approaches. Collaboration is key! Families, researchers and clinicians must remember that the patients 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. You cant improve on something if you never start it! Slide 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 Slide 28