An Enhanced Distributed Computational Platform for Developmental and Epileptic Encephalopathies

The collection and sharing of diagnostic information is crucial for future tele-medicine scenarios where sharing and analyzing patients' data will be standard practice.This paper presents the interdisciplinary research efforts aimed at the creation of a novel distributed repository (a registry) to collect and share genotypic and phenotypic data (clinical data and diagnostic images) from a comprehensive cohort of patients affected by Developmental and Epileptic Encephalopathies. Medical research on DEEs greatly benefits from the availability of such registry because these pathologies are characterized by the co-occurrence of many comorbidities. The registry is fed and used by three reference pediatric hospitals located in Florence, Pisa, and Siena and, to the best of authors' knowledge, it is the first Italian registry created for such scope.The REgistry for developMental and Epileptic encephalopathies and meDIcal comorbiditiES (REMEDIES), collects clinical and genetic data for DEE diagnosis and follow up. It is based on a software platform that, using a metadata-based generative approach, allows to quickly deploy a multi-center registry. In addition, it uses open-data and it has been integrated with relevant medical ontologies and genetic data repositories available worldwide. The registry is complemented by a front-end Picture Archiving and Communication System allowing the three involved medical centers to feed it with data about single cases followed by different centers in a joint effort for data collection.REMEDIES and its Picture Archiving and Communication System supports the healthcare process in (i) implementing and standardizing patients' phenotyping, follow up, and management; (ii) fostering medical advancement on ad hoc molecular diagnostic algorithms for genetic mutationsdetection; (iii) enhancing the collection of statistical data about the affected population to perform epidemiological studies, longterm follow up of patients and personalized screenings.