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International Registry Models: Phelan-Mcdermid Syndrome International Registry
The Phelan-McDermid Syndrome Foundation (PMSF) was established in 2002. Phelan-McDermid Syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on chromosome 22 and is characterized by global developmental delay, absent or severely delayed speech, epilepsy, and hypotonia. It is estimated that 80% of patients with PMS have ASD. In addition to several support services the foundation also funds research fellowships, symposiums and programs including the Phelan-McDermid Syndrome International Registry (PMSIR). PMSIR is the most comprehensive PMS patient database worldwide.
Objectives:
PMSIR, an on-line IRB approved patient registry, was established 3 years ago for the purpose of collecting demographic, genetic, clinical and developmental data on patients diagnosed with PMS longitudinally. The PMSIR advances knowledge of PMS and related conditions and accelerates the translation of knowledge into improvements in meaningful health outcomes by centralizing data provided by families into a richly populated, high quality database and research community resource.
Methods:
PMSF reaches out to patients in the PMS community through the PMS Foundation membership, as well as non-members participating in social media. Caregivers provide web-based informed consent for various levels of data sharing. They then respond to PMSIR clinical and developmental surveys and upload genetic reports and other documents to supplement the data they provide.
Results:
Researchers with IRB approved studies apply to the Registry for access to de-identified data entered by Registrants. Approved researchers must abide by the terms in a data access agreement, which must be signed upon approval of applications before data are released. All researchers are asked to share their findings with the Foundation. Further, as described in the informed consent for participation in the Registry, the Foundation may share de-identified registrant entered data with IRB-approved research databases designed to advance knowledge in PMS and related health conditions.
Today, there are:
- ~1,100 diagnosed cases of PMS worldwide
- 937 patients are members of the Foundation (524 in US).
- over 750 registered in registry (over 67% of known diagnosed cases worldwide)
Conclusions:
PMSF has pioneered the concept of the patient-driven registry through the perseverance of devoted parents and guidance from the research community. Over the nearly three years since the establishment of the PMSIR, no participants have withdrawn, 61% have logged into the PMSIR to update their data in the 12 months. Data has been extremely helpful for parents when they communicate with their physicians. This information has also proved useful to researchers, as a number of research projects and collaborations are the direct result of the PMSIR. In fact, the Phelan-McDermid Syndrome Foundation was awarded a contract with the Patient-Centered Outcomes Research Institute (PCORI) to expand upon the functionality of the PMSIR. The PCORI project will establish a PMS data network (PMS_DN) in partnership with Harvard Medical School’s Center for Biomedical Informatics.