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(Abst. 1.238), 2019

Early Life Epilepsy Natural History Project – Advancing Knowledge of Ultra-Rare Diseases with The CLIRINX Informatics Platform
Authors: Gerry Nesbitt, Ann & Robert H Lurie Children's Hospital; Anne T. Berg, Lurie Children's Hospital
Content: Rationale: Early life epilepsies (ELE) represent a large number of ultra-rare conditions which are only now being specifically recognized due to the advances in genetic testing. Partnerships between family groups and researchers create unique collaborations to develop a comprehensive understanding of the phenotypes and disabilities in children with these rare disorders. Web-based technologies can provide the means of facilitating natural history and related studies.  Methods: In consultation with several family groups, we developed surveys to collect parent-reported information for multiple domains (sleep, gross motor, GI, eating, etc.) and implemented the surveys in CLIRINX, a web-based IT platform for study management and data collection. CLIRINX provides features to design sophisticated web-based data collection forms. Through a secure patient portal. parents can enrol in the study, complete relevant data collection forms, and upload genetic test reports and other records if desired. Study consent, including GDPR consent, is administered via the website. The system is hosted on Amazon AWS Cloud servers with multiple security measures, including secure username/password and data encryption. Recruitment was through family organizations. Results: The CLIRINX website is friendly, easy, and intuitive for parents to use (figure 1). A total of 253 parents completed, at minimum, a detailed seizure history.  Of these, 76% are US-based, 14% from the EU/EAA, 4% from Canada, and 6% from other countries.  Participants represented family groups for Dravet Syndrome (101), KCNQ2 (51), KCNB1 (34), Lennox Gastaut Syndrome (35), ESES/CSWS/LKS (22), and Other (14).  179/253 (71%) completed all 13 forms (figure 2).  Preliminary summary reports have been generated and returned to family groups with ≥10 participants.  Parents provided additional suggestions for future modifications, and based on these initial surveys, more specific plans for true longitudinal natural history studies are underway with individual groups. Additional ultra-rare neurodevelopmental disease groups are beginning to build their own customized studies with this platform. Conclusions: Parents, providers, and scientists need efficient means to gather information to facilitate the development of future personalized-medicine trials for ultra-rare diseases. Our co-production model with parents, researchers, and providers and rapid implementation of resulting surveys on the CLIRINX platform provides a novel approach to accelerating our understanding of the ultra-rare diseases and bringing them one step closer to trial-readiness. Funding: Supported by the Stanley Manne Children’s Research Institute and Ann & Robert H. Lurie Children’s Hospital of Chicago under the Precision Medicine Strategic Research Initiative and the Pediatric Epilepsy Research Foundation (PERF).
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