[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100623457":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":10,"centralContacts":20,"locations":27,"responsibleParty":84,"collaborators":86,"id":96,"slug":97,"hasResults":98,"nctId":99,"briefTitle":100,"officialTitle":101,"acronym":102,"eligibilityCriteria":103,"healthyVolunteers":98,"sex":104,"minAge":10,"maxAge":105,"enrollmentInfo":106,"targetDuration":10,"studyType":109,"phases":10,"briefSummary":110,"conditions":111,"keywords":114,"overallStatus":124,"whyStopped":10,"lastUpdateSubmitDate":125,"lastUpdatePostDateStruct":126,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":134},{"fullName":5,"class":6},"University Hospital, Strasbourg, France","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"DEE Long-read",null,"his cohort is composed of pediatric patients (under 18 years old) with Developmental and Epileptic Encephalopathy (DEE) as defined by the 2022 ILAE criteria.\n\nThe group is specifically characterized by a prior negative molecular diagnosis despite analysis via short-read Whole Genome Sequencing (srWGS) through the French Genomic Medicine Plan 2025 (AURAGEN platform).\n\nSelection follows a clinical prioritization strategy: while the study includes all eligible DEE patients without a genetic answer, priority is given to those with early-onset forms, familial cases, or current therapeutic impasse (patients for whom standard treatments have failed). The study excludes cases where a clear non-genetic cause is identified, such as perinatal brain injury, focusing the cohort on high-probability \"hidden\" genetic etiologies.",[13],"Diagnostic Test: Long-read Whole Genome Sequencing (lrWGS)",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":10},"DIAGNOSTIC_TEST","Long-read Whole Genome Sequencing (lrWGS)","Long-read Whole Genome Sequencing (lrWGS) using high-molecular-weight DNA previously extracted and banked during the patient's initial clinical workup.",[9],[21],{"name":22,"role":23,"phone":24,"phoneExt":25,"email":26},"Sarah BAER","CONTACT","+333.88.12.84.98","+33","sarah.baer@chru-strasbourg.fr",[28,45,59,70],{"facility":29,"status":10,"city":30,"state":10,"zip":31,"country":32,"countryCode":33,"cosmosGeoPoint":34,"geoPoint":39,"contacts":40},"CHU Jean Minjoz","Besançon","25000","France","FR",{"type":35,"coordinates":36},"Point",[37,38],6.01815,47.24878,{"lat":38,"lon":37},[41],{"name":42,"role":23,"phone":43,"phoneExt":25,"email":44},"Joanna BELLEVILLE","+333.81.21.81.46","jgoffeney@chu-besancon.fr",{"facility":46,"status":10,"city":47,"state":10,"zip":48,"country":32,"countryCode":33,"cosmosGeoPoint":49,"geoPoint":53,"contacts":54},"American Memorial Hospital","Reims","51092",{"type":35,"coordinates":50},[51,52],4.02853,49.26526,{"lat":52,"lon":51},[55],{"name":56,"role":23,"phone":57,"phoneExt":25,"email":58},"Mélanie JENNESON","+333.26.78.78.99","Mjennesson-lyver@chu-reims.fr",{"facility":60,"status":10,"city":61,"state":10,"zip":62,"country":32,"countryCode":33,"cosmosGeoPoint":63,"geoPoint":67,"contacts":68},"Hôpitaux Universitaires de Strasbourg","Strasbourg","67098",{"type":35,"coordinates":64},[65,66],7.74553,48.58392,{"lat":66,"lon":65},[69],{"name":22,"role":23,"phone":24,"phoneExt":25,"email":26},{"facility":71,"status":10,"city":72,"state":10,"zip":73,"country":32,"countryCode":33,"cosmosGeoPoint":74,"geoPoint":78,"contacts":79},"CHU de Nancy - hôpital d'enfant","Vandœuvre-lès-Nancy","54511",{"type":35,"coordinates":75},[76,77],6.17114,48.66115,{"lat":77,"lon":76},[80],{"name":81,"role":23,"phone":82,"phoneExt":25,"email":83},"Mathieu KUCHENBUCH","+333.83.15.50.85","m.kuchenbuch@chru-nancy.fr",{"type":85,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[87,90,92,94],{"name":88,"class":89},"IGBMC","UNKNOWN",{"name":91,"class":89},"Laboratoire de diagnostic génétique - NHC",{"name":93,"class":89},"Groupe Méthode en Recherche Clinique (GMRC)",{"name":95,"class":89},"Bio-informatique médicale appliquée au diagnostic (UF7363) - NHC","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":107,"type":108},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.",[112,113],"Developmental and Epileptic Encephalopathy","Epilepsy in Children",[115,116,17,117,118,119,120,121,122,123],"Developmental and Epileptic Encephalopathy (DEE)","Drug-Resistant Epilepsy","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":127,"type":128},"2026-02-09","ACTUAL",{"date":130,"type":108},"2026-06",{"date":132,"type":108},"2028-06",{"name":5,"class":6},4]