Table 4 PCORnet Patient Powered Research Networks focusing on Rare Diseases
From: An overview of the impact of rare disease characteristics on research methodology
Project Title | Condition | Project Goal |
|---|---|---|
Collaborative Patient-Centered Rare Epilepsy Network | Rare Epilepsy | Goal of the network is to build patient/caregiver-centered database designed to increase research opportunities for patients and caregivers |
ALD Connect | X-linked adrenoleukodystrophy | Inventory and collect information from existing patient registries, advocacy groups and design common elements; create a social network platform that enables communication between patients and researchers |
The Vasculitis Patient Powered Research Network | Vasculitis | Directly engages patients in order to explore research questions that matter most to patients – involve patients in study design, increase study eligibility |
Phelan-McDermid Syndrome Data Network | Phelan-McDermid Syndrome | Encourage active participation from patient families; develop multiple data feeds to extract and link data from patient cohorts |
Empowering Patients and Families for Community-Driven Research: The DuchenneConnect Patient-Report Registry Infrastructure Project | Duchenne and Becker Muscular Dystrophies | Balance robust data collection with reducing burden and increasing benefits for registrants; integrate EHRs; evaluate patient-reported outcome accuracy; improve coding and standardize information exchange |
NephCure Kidney Network for Patients with Nephrotic Syndrome | Nephrotic Syndrome | Change nature of NKN from static cross-sectional data to patient-reported outcomes database; establish network governance with active patient participation; collect data that are interoperable across research networks |
The Patients, Advocates and Rheumatology Teams Network for Research and Service (PARTNERS) Consortium | Juvenile Rheumatic Disease | Extend current registry; create patient-centered learning health system; patients involved in governance structure |
PI Patient Research Connection: PI-CONNECT | Primary Immunodeficiency Diseases | Create venue for researcher and patients to communicate about proposed research; use mobile apps to engage population; integrate existing medical records into the network; identify potential markers for risk stratification |
Community Engaged Netowrk for All (CENA) | Alström syndrome; Dyskeratosis congenital; Gaucher disease; Hepatitis; Inflammatory breast cancer; Joubert syndrome; Klinefelter syndrome and associated conditions; Metachromatic leukodystrophy; Pseudoxanthoma elasticum (PXE); Psoriasis | Launch or upgrade online registries; participants determine to whom and for what purpose their information is shared; participant-led governance model |