Skip to main content
Patient-Centered Outcomes Research Institute
Patient-Centered Outcomes Research Institute
  • Blog
  • Newsroom
  • Find It Fast
  • Help Center
  • Subscribe
  • Careers
  • Contact Us

PCORI

Patient-Centered Outcomes Research Institute

Search form

  • About Us
    Close mega-menu

    About Us

    • Our Programs
    • Governance
    • Financials and Reports
    • Procurement Opportunities
    • Our Staff
    • Our Vision & Mission
    • Contact Us

    Fact Sheets: Learn More About PCORI

    Download fact sheets about out work, the research we fund, and our programs and initiatives.

    Find It Fast

    Browse through an alphabetical list of frequently accessed and searched terms for information and resources.

    Subscribe to PCORI Email Alerts

    Sign up for weekly emails to stay current on the latest results of our funded projects, and more.

  • Research & Results
    Close mega-menu

    Research & Results

    • Explore Our Portfolio
    • Research Fundamentals
    • Research Results Highlights
    • Putting Evidence to Work
    • Peer Review
    • Evidence Synthesis
    • About Our Research

    Evidence Updates from PCORI-Funded Studies

    These updates capture highlights of findings from systematic reviews and our funded research studies.

    Journal Articles About Our Funded Research

    Browse through a collection of journal publications that provides insights into PCORI-funded work.

    Explore Our Portfolio of Funded Projects

    Find out about projects based on the health conditions they focus on, the state they are in, and if they have results.

  • Topics
    Close mega-menu

    Topics

    • Addressing Disparities
    • Arthritis
    • Asthma
    • Cancer
    • Cardiovascular Disease
    • Children's Health
    • Community Health Workers
    • COVID-19
    • Dementia and Cognitive Impairment
    • Diabetes
    • Kidney Disease
    • Medicaid
    • Men's Health
    • Mental and Behavioral Health
    • Minority Mental Health
    • Multiple Chronic Conditions
    • Multiple Sclerosis
    • Obesity
    • Older Adults' Health
    • Pain Care and Opioids
    • Rare Diseases
    • Rural Health
    • Shared Decision Making
    • Telehealth
    • Transitional Care
    • Veterans Health
    • Women's Health

    Featured Topic: Women's Health

    Learn more about the projects we support on conditions that specifically or more often affect women.

  • Engagement
    Close mega-menu

    Engagement

    • The Value of Engagement
    • Engagement in Health Research Literature Explorer
    • Influencing the Culture of Research
    • Engagement Awards
    • Engagement Resources
    • Engage with Us

    Engagement Tools and Resources for Research

    This searchable peer-to-peer repository includes resources that can inform future work in patient-centered outcomes research.

    Explore Engagement in Health Literature

    This tool enables searching for published articles about engagement in health research.

    Research Fundamentals: A New On-Demand Training

    It enables those new to health research or patient-centered research to learn more about the research process.

  • Funding Opportunities
    Close mega-menu

    Funding Opportunities

    • What & Who We Fund
    • What You Need to Know to Apply
    • Applicant Training
    • Merit Review
    • Awardee Resources
    • Help Center

    PCORI Funding Opportunities

    View and learn about the newly opened funding announcements and the upcoming PFAs in 2021.

    Tips for Submitting a Responsive LOI

    Find out what PCORI looks for in a letter of intent (LOI) along with other helpful tips.

    PCORI Awardee Resources

    These resources can help awardees in complying with the terms and conditions of their contract.

  • Meetings & Events
    Close mega-menu

    Meetings & Events

    • Upcoming
    • Past Events

    January 2021 Board of Governors Meeting

    The Board approved funding for a new research study relating to kidney health and a new funding allocation for PCORnet. Learn more

    Confronting COVID-19: A Webinar Series

    Learn more about the series and access recordings and summary reports of all six sessions.

    2020 PCORI Annual Meeting

    Watch recordings of all sessions, and view titles and descriptions of the posters presented at the virtual meeting.

You are here

  • Research & Results
  • Explore Our Portfolio
  • Phelan-McDermid Syndrome Data Network...

Phelan-McDermid Syndrome Data Network - Phase I

Sign Up for Updates to This Study  

Project Summary  

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) was founded in 2002 by families of children diagnosed with PMS to further research. 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.

 In 2011, in collaboration with researchers and advisors, PMSF launched an international patient registry, PMSIR to empower both researchers and parents to address issues fundamental to the quality of a PMS patient’s life. 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.  Currently, it has 546 active participants, 49.6% of the world’s known patients.  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.

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.

The PMS Data Network 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. This project will build a dedicated network 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 from electronic health records into the backbone informatics architecture provided by the open source, i2b2 based, tranSMART platform with rich phenotype extraction via Apache cTAKES. Such datasets must meet the needs of researchers (including support for diverse scientific collaborations with networks that are funded by PCORI or others,  while simultaneously preserving security and maintaining appropriate privacy and ethical safeguards. Through models such as this, we will advance research in PMS and SHANK3, improving the quality of life of PMS patients.

More on this Project  

View Phase II Award

Project Details

Principal Investigator
Megan O'Boyle, BA
Project Status
PCORnet: Phase I completed; Phase II in progress
Project End Date
September 2015
Organization
Phelan-McDermid Syndrome Foundation
Year Awarded
2013
State
Florida
Project Type
PCORnet: Patient Powered Research Networks (PPRN) Phase I
Project Budget
$957,328
Study Registration Information
HSRP20143618
Page Last Updated: 
October 15, 2019

Research & Results

  • Explore Our Portfolio
  • Research Fundamentals
  • Research Results Highlights
  • Putting Evidence to Work
  • Peer Review
  • Evidence Synthesis
  • About Our Research

About Us

  • Our Programs
  • Governance
  • Financials and Reports
  • Procurement Opportunities
  • Our Staff
  • Our Vision & Mission
  • Contact Us

Research & Results

  • Explore Our Portfolio
  • Research Fundamentals
  • Research Results Highlights
  • Putting Evidence to Work
  • Peer Review
  • Evidence Synthesis
  • About Our Research

Engagement

  • The Value of Engagement
  • Engagement in Health Research Literature Explorer
  • Influencing the Culture of Research
  • Engagement Awards
  • Engagement Resources
  • Engage with Us

Funding Opportunities

  • What & Who We Fund
  • What You Need to Know to Apply
  • Applicant Training
  • Merit Review
  • Awardee Resources
  • Help Center

Meetings & Events

January 21
Cycle 1 2021 Broad PFA Applicant Town Hall
February 2
PCORI 2021 and Beyond: Opportunities for Funding and Involvement in Patient-Centered Research
February 9
Board of Governors Meeting: February 9, 2021

PCORI

Footer contact address

Patient-Centered Outcomes
Research Institute

1828 L Street, NW, Suite 900
Washington, DC 20036
Phone: (202) 827-7700 | Fax: (202) 355-9558
[email protected]

Subscribe to Newsletter

Twitter Facebook LinkedIn Vimeo

© 2011-2021 Patient-Centered Outcomes Research Institute. All Rights Reserved.

Privacy Policy | Terms of Use | Trademark Usage Guidelines | Credits | Help Center