April 2nd, 2019 - Rare Epilepsy Network PCORI progress update

The Rare Epilepsy Network, or REN for short, is a collaboration between the Epilepsy Foundation, RTI International, Columbia University and many different organizations that represent patients with a rare syndrome or disorder that is associated with epilepsy or seizures. Dup15q Alliance is 1 of 30 advocacy organizations that represent REN. 

REN has been participating in a innovative initiative funded by the Patient-Centered Outcomes Research Institute (PCORI). 

Through this initiative, REN has successfully built a patient-centered research consortium that directly engages caregivers of children and adults with rare epilepsy in defining research priorities and accelerating studies to inform decision-making for families living with rare epilepsies. Our accomplishments include:
  • Originally bringing together 10 separate rare epilepsy organizations with researchers to create a shared purpose in the REN
    • Growing the number of participating rare epilepsy organizations to more than 30
    • Establishing patient/caregiver priorities for research; defining the questions included in the REN Baseline Survey through co-production
    • Building the regulatory infrastructure required to conduct survey research (IRB approvals for protocol, consent/assent, recruitment)
    • Building and deploying the informatics infrastructure required to conduct and analyze survey research (REN Baseline Survey programming, data collection, reporting and analysis)
    • Building a public website for enrollment and dissemination of results (https://ren.rti.org/)
    • Implementing the PCORnet Common Data Model in the REN
    • Recruiting more than 1450 caregivers and individuals with rare epilepsies to contribute information
    • Conducting an analysis with PEDSnet to determine incidence of rare epilepsies in PEDSnet centers
    • Analyzing REN data to produce findings on comorbidities (J Peds), pneumonia (in revision), sleep (in preparation) and incidence of rare epilepsies in PEDSnet centers (in preparation).
    • Developing common expressions of the rare epilepsies in collaboration with a CDC-funded project to more easily identify individuals with a potential rare epilepsy diagnosis (Grinspan project)
    • Publicly disseminating REN Baseline Survey results through the REN Online Dashboard (interactive tool available on the REN website).
    • Conducting three REN workshops on defining research priorities, non-seizure outcome measures for clinical trials, and recommendations for criteria for Rare Epilepsy Centers of Excellence. 
    • Assisting in the conduct of a caregiver burden survey (collaboration with Zogenix and University of Washington)
    • Applying for additional genetic research study funding (unsuccessfully, to date)
    • Applying for membership in PCRF’s PCORnet 2.0 (unsuccessful, as no PPRNs were selected for membership)
    • Applying for PCORI research engagement funding (unsuccessfully, to date)
    • Applying for PCORnet pilot Learning Healthcare Systems funding (awarded February 2019)
    • Focusing on clinical trial design issues that directly relate to rare epilepsies in discussions with the Research Roundtable for Epilepsy, an annual meeting of experts from academia, industry, patient advocacy and regulatory whose function is to identify gaps in current drug and device development paradigms, foster innovative solutions, and provide recommendations for future plans for drug and device development. (Rare epilepsies featured at Research Roundtable meetings in 2017, 2018 and 2019).
    • Advertising availability of four clinical research studies to REN participants for potential enrollment