2 From Registries to Research: Creating a Resource that Empowers Families and Facilitates Research Megan Lynch O’Boyle“Shannon’s Mom”Registry Coordinator forPhelan-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 BaseRange in detail of data collectedVary in who inputs the dataDifferent uses or purposesVarying degrees of valueCost varies widelyData Bases: from crude to sophisticated programming and encryptionDetails: from contact info (names & address) to very specific details re: genetic data, medications, test results, etc.Input: from Patient/parent reported to clinician/researcher reportedPurpose: Contact registry, clinical trial recruitment based on medical symptoms, to use for research publicationsValue: depends on the design, implementation the demandCost: minimal for Excel database to expensive for industry registry
5 Who can create a patient registry? Researchers /ClinicsPharmaceutical CompaniesPatient Support Groups
6 What advantages do patient groups have by creating their own registry? Contact informationTrust of their membersConsent to be re-contactedAbility to inform and recruit patientsMeans of communications:Social MediaNewsletters
7 Why a patient group sponsored registry? Decrease patient survey fatigueData can be shared with more researchers faster for less $Increase in researcher access to dataResearcher can post Q&A on the PMSIR registry faster and for lessDecreases 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 conditionResearchers get …Data about the patientsPharmaceutical 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 isVERY 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 patientWhat is the patient’s pain tolerance?
11 Cross-Disease Analysis: example: PMS & Dup15q Registries Value to researchers…Cross-Disease Analysis: example: PMS & Dup15q RegistriesExample: Developmental RegressionRegressionDup15qPMSCognitive regression6562Seizure-Related RegressionMotor skills3018Complex skills157Speech9* 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 groupSee 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 vendorCompiled potential Q&AConsulted with researchers about the Q&ACreated necessary documents: Informed Consent, IRB protocol, marketing materials, etc. (with the help of outside advisers)Beta testedMarketedReturned data to patients/families whenever possibleWill 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 questionsAsks 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 syndromeEducate and empower familiesImprove diagnosis and clinical careProvide data for pre-clinical and clinical researchIdentify cohortsFacilitate recruitment & reduce enrollment lagConnect families to research opportunitiesCollecting 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 languagesPosted 100 additional questions from a researcherGained attention of the research communityRegistrants from 39 countries
17 Without having the family support (PMS Foundation) we would not have been able to accomplish what we did
19 When is the right time to start a patient registry? Now!If resources are limited use a “no-cost to patient group” registryIf you don’t know where to start ask for help
20 Patients are motivated participants Understanding needs, experiences and barriers is crucialVoluntary enrollment and participationMutual benefit to patients, researchers, advocacy groups, sponsors, and government agencies
21 What we’ve learned… Patients/families have limited time: Short, specific surveys are bestAbility to go back to finish is preferredToo many questions can be overwhelmingParents can’t remember answers and that makes them feel like “bad” parentsIf 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 DanielsGeraldine Leader & Patricia Walsh – NUI GalwayVanessa Miller – Patient CrossroadsElizabeth Horn – PMSIR AdviserKadi Luchsinger - Dup 15q AllianceAndy Faucett – Geisinger Health System / VIP Connect