[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"developmental-and-epileptic-encephalopathy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:developmental-and-epileptic-encephalopathy":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,51],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":27,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":39,"lastUpdatePostDateStruct":40,"startDateStruct":43,"completionDateStruct":45,"leadSponsor":47,"locationsCount":50},"100623457","developmental-and-epileptic-encephalopathies-diagnosed-via-long-read-genome-sequencing-100623457",false,"NCT07396883","Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing","Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing - EEPILOG","EEPILOG","Inclusion Criteria:\n\nPediatric Participants:\n\n* Age \\\u003C 18 years.\n* Diagnosis of Developmental and Epileptic Encephalopathy (DEE) according to 2022 ILAE criteria (severe epilepsy, encephalopathic EEG, multiple drug-resistant seizures, and neurodevelopmental disorder).\n* Brain MRI without markers of perinatal anoxia.\n* Negative molecular diagnosis after short-read Whole Genome Sequencing (srWGS) via the French Genomic Medicine Plan 2025 (AURAGEN).\n* Available banked DNA at a participating center.\n\nParents\u002FLegal Guardians:\n\n* Age ≥ 18 years.\n* Able to understand study objectives and risks.\n* Signed and dated informed consent.\n* Affiliated with or beneficiary of a social security scheme.\n\nExclusion Criteria:\n\nPediatric Participants:\n\n* Brain MRI findings in favor of perinatal cerebral anoxia.\n* Intercurrent diseases preventing the completion of protocol examinations.\n* Subject currently in an exclusion period from another study.\n\nParents\u002FLegal Guardians:\n\n* Inability to receive or understand informed information (e.g., life-threatening emergency).\n* Subject under judicial protection, tutelage, or curatorship.\n* Language barriers where an official interpreter is unavailable.","ALL","18 Years",{"count":20,"type":21},20,"ESTIMATED","OBSERVATIONAL","This study focuses on children with Developmental and Epileptic Encephalopathy (DEE), a severe form of epilepsy that often has a genetic origin. Currently, standard diagnostic tools-known as short-read genome sequencing-fail to provide a diagnosis for over 50% of affected patients because they cannot detect certain complex DNA abnormalities.\n\nThe purpose of this study is to evaluate the effectiveness of a newer, more advanced technology called Long-read Genome Sequencing (lrWGS). Unlike traditional methods, this technology analyzes very long fragments of DNA, allowing researchers to identify genetic errors that were previously \"invisible.\"\n\nThe study aims to answer whether Long-read Sequencing can successfully identify the genetic cause of epilepsy in patients who have already received a negative result from standard testing. By finding these missing answers, the research seeks to enable personalized medical treatments, improve genetic counseling for families, and advance our understanding of how these complex neurological conditions develop.",[25,26],"Developmental and Epileptic Encephalopathy","Epilepsy in Children",[28,29,30,31,32,33,34,35,36,37],"Developmental and Epileptic Encephalopathy (DEE)","Drug-Resistant Epilepsy","Long-read Whole Genome Sequencing (lrWGS)","Long-read Sequencing","Negative Short-read Sequencing","Genetic Diagnosis","Pediatric Neurology","High-Throughput Nucleotide Sequencing","Early-Onset Epilepsy","Genetic Epilepsy","NOT_YET_RECRUITING","2026-02-02",{"date":41,"type":42},"2026-02-09","ACTUAL",{"date":44,"type":21},"2026-06",{"date":46,"type":21},"2028-06",{"name":48,"class":49},"University Hospital, Strasbourg, France","OTHER",4,{"id":52,"slug":53,"hasResults":11,"nctId":54,"briefTitle":55,"officialTitle":56,"acronym":57,"eligibilityCriteria":58,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":59,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":61,"conditions":62,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":73},"100545306","developmental-and-epileptic-encephalopathy-of-genetic-etiology-natural-history-through-reuse-of-clinical-data-100545306","NCT06380192","Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data","Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data \u002F DEE-RETRO","DEE-RETRO","Inclusion Criteria:\n\n* Diagnosis of Developmental and Epileptic Encephalopathy\n* Registered with or benefiting from a social security scheme.\n\nExclusion Criteria:\n\n* Opposition of the patient or his\u002Fher parents to the re-use of data in the context of this study\n* Person subject to a safeguard of justice measure",{"count":60,"type":21},400,"Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity.\n\nThe creation of a database with retrospective follow-up of a large number of patients on a national scale will enable better knowledge of specific biomarkers, and thus a better classification and understanding of the natural evolution of DEE according to their etiology. This will enable better, more personalized therapeutic management of patients, depending on etiology and the presence or absence of these biomarkers. The investigators will also be able to draw up management recommendations, which are currently non-existent.",[25],"RECRUITING","2025-06-25",{"date":66,"type":42},"2025-06-29",{"date":68,"type":42},"2024-10-31",{"date":70,"type":21},"2026-12-31",{"name":72,"class":49},"Imagine Institute",23]