Natural History Study of Developmental and Epileptic Encephalopathy Using Reused Clinical Data

What this Trial Is About

Developmental and Epileptic Encephalopathies DEE are a diverse group of neurodevelopmental disorders associated with epilepsy and their underlying causes. Researchers aim to create a large national database with retrospective follow-up of many patients to better understand specific biomarkers. This will help improve classification and knowledge of DEEs natural progression depending on their causes, allowing for more personalized care and development of management recommendations where none currently exist. This observational study includes patients diagnosed with DEE and control patients undergoing routine EEG exams without epilepsy diagnoses. Data from 2002 to 2026 will be reused to identify diagnostic and early predictive biomarkers, categorize patient subgroups with these biomarkers, and assess quality of life, adaptive behavior, behavioral disorders, and autism spectrum disorders. The study uses existing clinical data without administering new treatments. Participants data will be analyzed retrospectively to find markers linked to neurodevelopmental outcomes in DEE. The study will assess multiple aspects of patients lives and behaviors over time. No new interventions or visits are required, as the study relies on existing health records. The trial runs until the end of 2026, with the goal to improve understanding and personalized management of DEE.

Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data