Primary Immunodeficiency (PI) includes more than 185 related, rare genetic diseases with a diagnosed population prevalence of about 1 in 1,200, although the prevalence for each specific diagnosis varies from 1 in 1,000 to less than 1 in 1,000,000. Study of these rare diseases is hindered by the geographic spread of patients, making single center studies impossible except for the most common diseases. Broad-based recruitment of patients is difficult, and there is a lack of integrated effort by clinicians with research experience and the patients seeking answers to specific questions. PI Patient Research Connection[*] (PI Connect) will leverage new technologies to address those challenges.
The current curated, data-validated, longitudinal registry of PI patient data depends on physician entry, and the cohort is strongly skewed towards academic centers. The Immune Deficiency Foundation (IDF) administers this patient-consented registry, called US Immunodeficiency Network (USIDNET), which contains clinical data on US and Canadian patients. A second dataset collects medical information from patients. IDF developed this electronic personal health record, called eHealthRecord, for the PI community. IDF is now building PI CONNECT, a PPRN combining data from eHealthRecord and the USIDNET registry, to maximize data breadth and bring patients and researcher-physicians together to improve patient care.
PI CONNECT will also provide a venue for researchers and patients to communicate about proposed research involving the network data, giving patients a voice in research, as well as providing researchers with better access to the PI community. Existing IDF channels will promote participation in the PPRN, while new modes of engaging the population, such as a mobile application, will support continued value and use of the network. To expand the clinical information, eHealthRecord will use Blue Button technology to integrate users’ existing medical records into the network.
PI CONNECT will support outcomes and quality-of-life research and identify potential markers for risk stratification. The direct involvement of patients will focus those studies using the lens of patients’ experiences and unanswered questions.
[*] Working title
View more about this project on PCORnet.org.