The Phelan-McDermid Syndrome Foundation is a parent-driven nonprofit organization founded by families of children diagnosed with Phelan-McDermid Syndrome (PMS). PMS is an orphan genetic condition caused by deletions of 22q13 or mutations of the SHANK3 gene. There are less than 1,000 cases diagnosed in the United States. PMS is highly associated with autism spectrum disorder and intellectual disability of varying degrees. There are no treatments for PMS. In 2011, the foundation launched an international patient registry to enable parents to characterize the condition for the research community and generate investigator interest. The registry collects 257 patient-reported outcomes (PROs). Today, the foundation is a leader in rare disease registry development and family engagement.
With unprecedented opportunities to collected patient-contributed data from multiple sources, the foundation began exploring how their integration with PROs could enhance case information on individual patients and speed innovations in the care and treatment of PMS. In 2013, the foundation and Harvard Medical School partnered to establish the PMS Data Network (PMS_DN) to integrate data from the patient registry with knowledge derived from clinical notes of electronic health records of PMS patients. PMS_DN’s mission is to advance knowledge of PMS and related conditions, and to accelerate the translation of that knowledge into care and treatments, leading to improvements in meaningful health outcomes. This is accomplished by integrating complex data sources into a high-quality and accessible database that facilitates patient-centered research. Central to the PMS_DN is the authentic engagement of patients and caregivers as champions for their families. The PMS_DN includes 300 enrollees, 97 percent of whom are willing to be contacted to participate in research.
Partnerships with diverse stakeholders ensure the success of the PMS_DN in Phase II:
- The Parent Action Committee steers the PMS_DN and enables rapid decision making and dialogue about research priorities and community interests.
- Partnerships with clinical data research networks in the application of a PMS-specific computable phenotype allows the PMS_DN to identify undiagnosed individuals, enabling them to access genetic tests needed for diagnosis and appropriate care.
- Existing relationships with clinical research leaders and industry through various venues—including the National Institutes of Health (NIH) Rare Diseases Clinical Research Network, the NIH Big Data to Knowledge Initiative, and an International Meeting for Autism Research special interest group on an information commons for autism research—will be instrumental in building a highly engaged investigator community for PCORnet.
Through these partners and more, the PMS_DN is well positioned to not only participate in collaborative PCORnet research but also contribute thought leadership and authentic patient engagement strategies to benefit the network and external research projects.
View more about this project on PCORnet.org.