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Phelan-McDermid Syndrome Data Network
Investigator (PI): O'Boyle, Megan
Performing Organization (PO): (Current): Phelan-McDermid Syndrome Foundation / (941) 485-8000
Supporting Agency (SA): Patient-Centered Outcomes Research Institute (PCORI)
Initial Year: 2014
Final Year: 2015
Record Source/Award ID: PCORI/PPRN-1306-04814
Funding: Total Award Amount: $957,328
Award Type: Contract
Award Information: PCORI: More information and project results (when completed)
Abstract: Objective: The objective is to collect all available patient data from Phelan-McDermid Syndrome (PMS) patients to make meaningful, well-annotated clinical data available to researchers and to share insights with members of the PCORI network. PMS is an orphan genetic condition caused by deletions of 22q13 or mutations of the SHANK3 gene. The syndrome presents with an array of characteristics, but the manifestations are profound, and parents and caregivers must advocate for PMS patients throughout the life's course. The PMS Foundation (PMSF) is a parent-driven non-profit 501(c)3 organization, founded in 2002 by families of children diagnosed with PMS. The mission of PMSF is to provide family support and to accelerate research for individuals with PMS. PMSF parents recognized a need to compile health records in a meaningful fashion to further research, and together with researchers and advisors, they launched an international patient registry, the PMSIR, that is directed, governed, and implemented by patient families. IRB approval was obtained in 2011. There are currently 546 active participants, 49.6% of the world's known patients. PMSF has pioneered the concept of the patient-driven registry within a population of patients with a rare condition, through the perseverance of devoted parents. PMSIR provides a solid foundation upon which to build a network that can create new information in the form of meaningful data for researchers. Founded by parents, PMSIR is driven by parents, governed by parents, and will be transformed by parents who are stakeholders in the success of a standardized research data network. This network empowers both researchers and parents to address issues fundamental to the quality of a PMS patient's life. PMS parents have proven they are willing and able to collaborate with the medical community, researchers, clinicians, and consultants to bring a concept to fruition, evidenced by the current capacity of PMSIR and collaborations with researchers noted in this proposal. Because PMSIR is well established and parent constituents are committed to the mission, PMSF is uniquely positioned to expand the existing parent network through building transformative infrastructure to become a model patient-powered network as defined by the PCORI vision. The proposed PMS Data Network (PMS_DN) will continue to encourage active participation and leadership of PMS families, and enhance organizational structure and capacity to further develop PMSIR into a comprehensive data network. An existing parent advisory committee (PAC) is charged with ensuring PMSIR meets the needs of families and is in alignment with the community's goals. Outreach to PMS families is an important strategy for increasing participation. The real value in biomedical research lies not in the scale of any single source of data, but in the ability to integrate and interrogate multiple, complementary datasets simultaneously. Combining data across different scales and resolutions such that reliable results can be generated to address important questions is non-trivial. Thus the principal challenge is not a lack of data, but how best to make sense of it. This project will build a dedicated PMS_DN to enable scientists to have access to all available knowledge from PMS patients. Multiple data feeds will be established to extract and link data from well-characterized patient and population cohorts into the backbone informatics architecture provided by the open source, i2b2-based, tranSMART platform. Such datasets must meet the needs of researchers (including support for diverse scientific collaborations with CDRNs or outside PCORI) while simultaneously preserving security and maintaining appropriate privacy and ethical safeguards. PMSF is excited to participate in the PCORI program-wide steering committee to share insights with the constituency of the PCORI network. PMSF is willing to share insights with other PPRNs who are just starting to build a patient network. PMSF believes that not only should patients be at the center of research, those that are doing it well have a commitment to the greater community to share best practices.
MeSH Terms:
  • Access to Information
  • Biomedical Research /trends
  • Caregivers
  • Child
  • Chromosome Disorders /*diagnosis
  • /genetics /*therapy
  • Chromosomes, Human, Pair 22
  • Data Collection
  • Databases, Factual
  • Family Health
  • Humans
  • International Cooperation
  • Internet
  • Models, Organizational
  • Outcome Assessment, Health Care
  • Parents
  • Patient Participation
  • Patient-Centered Care
  • Program Development
  • Registries
  • Social Support
  • Software
Country: United States
State: Florida
Zip Code: 34292
UI: 20143618
Project Status: Completed
Related Records: Phelan-McDermid Syndrome Data Network (PMS_DN): phase II