[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"dup15q-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:dup15q-syndrome":69},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,43],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100599069","phase-2-investigating-the-therapeutic-efficacy-of-all-trans-retinoic-acid-in-autism-spectrum-disorder-patients-with-15q11-13-duplication-syndrome-100599069",false,"NCT07079696","Investigating the Therapeutic Efficacy of All-trans Retinoic Acid in Autism Spectrum Disorder Patients With 15q11-13 Duplication Syndrome","Inclusion Criteria:\n\n1. Clinical Diagnosis Conducted by two experienced physicians based on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition （DSM-V）\n2. Diagnostic Scale Assessment Performed by professionally certified examiners using ADOS-2\n3. Genetic Testing Diagnostic criteria via genomic analysis : detection of 15q11-13 duplication containing UBE3A\n\nExclusion Criteria:\n\n1. History of acute or chronic infection within the past 3 months\n2. Active epileptic seizures within the past 6 months\n3. Intake of nutritional supplements (e.g., vitamin A and\u002For minerals) within the past 1 month\n4. History of chronic diseases, including abnormal liver function, abnormal renal function, or thyroid dysfunction","ALL","3 Years","7 Years",{"count":19,"type":20},90,"ESTIMATED","INTERVENTIONAL",[23],"PHASE2","Autism spectrum disorder (ASD) , hereafter referred to as autism, is a group of neurodevelopmental disorders caused by genetic and environmental factors. Its core symptoms are social impairment, repetitive stereotyped behaviors, and restricted interests.\n\nThe 15q11-13 region of the human chromosome is a locus prone to structural abnormalities leading to neurological disorders. Maternal duplications within this region lead to Dup15q syndrome , which accounts for approximately 1% of ASD cases .\n\nThis region harbors multiple alleles, and current research indicates that the pathophysiological alterations in this syndrome primarily involve UBE3A . Among all genes in the 15q11-13 region, only UBE3A exhibits cell-type-specific maternal monoallelic expression . Consequently, duplication of the UBE3A gene is considered the primary pathogenic factor in the pathology of Dup15q syndrome.\n\nStudies show that the metabolic conversion of retinol to retinoic acid is impaired in ASD patients with UBE3A overexpression and corresponding animal models . Notably, dietary supplementation with all-trans retinoic acid (ATRA) has been shown to significantly ameliorate autism-like behaviors caused by UBE3A overexpression in male mice .\n\nThis study aims to evaluate ATRA treatment in children with Dup15q syndrome-related autism , assessing changes in their ADOS-2 scores , to potentially provide a novel therapeutic approach for autism treatment.",[26,27,28,29],"Dup15q Syndrome","Autism Spectrum Disorder","Therapy","All-trans Retinoic Acid","NOT_YET_RECRUITING","2025-07-14",{"date":33,"type":34},"2025-07-23","ACTUAL",{"date":36,"type":20},"2025-09-01",{"date":38,"type":20},"2027-01",{"name":40,"class":41},"Second Affiliated Hospital, School of Medicine, Zhejiang University","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":4,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":15,"minAge":50,"maxAge":51,"enrollmentInfo":52,"targetDuration":4,"studyType":54,"phases":4,"briefSummary":55,"conditions":56,"keywords":4,"overallStatus":59,"whyStopped":4,"lastUpdateSubmitDate":60,"lastUpdatePostDateStruct":61,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":42},"100543265","structural-functional-connectome-in-drug-resistant-epilepsies-and-neurodevelopmental-syndromes-with-epilepsy-100543265","NCT06353620","Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy","Structural-functional Connectome With High-density Electroencephalography in Drug-resistant Epilepsies and Rare Neurodevelopmental Syndromes With Epilepsy","Inclusion Criteria:\n\n* a diagnosis of focal or generalized epilepsy, Angelman syndrome, or Dup15q, confirmed by specialist evaluation;\n* at least one MRI scan of the brain that includes 3D T1 sequences;\n* at least one 128-channel HD-EEG recording; and\n* age between 6 and 75 years at the time of the evaluation of the present study;\n* ability to take part in a neuropsychological evaluation.\n\nExclusion Criteria:\n\n* vascular causes or non-low-grade tumors as causes of epilepsy;\n* age different from the range 6-75 years;\n* neuroradiological examination not complete (absence T1 3D);\n* absence of HD-EEG 128-channel recording\n* inability to take part in a neuropsychological evaluation.","6 Years","75 Years",{"count":53,"type":20},120,"OBSERVATIONAL","Recent studies have shown that the aperiodic part of the signal (neuronal avalanches) of electroencephalography (EEG) contains important information about the dynamics of neuronal networks. Indeed, this has helped to identify functionally altered areas in patients with temporal epilepsy by simply using the resting EEG signal. Furthermore, it has been seen that the propagation of neuronal avalanches (VNs) correlates with the morphological organization of the cerebral cortex. Therefore, NAs represent a measure with direct utility for studying functional reorganization pre and post drug\u002Fsurgical treatment. In addition, the aperiodic portion of the signal may represent a noninvasive measure of the excitation\u002Finhibition relationship, which is known of being altered both in epilepsy and in some rare neurodevelopmental syndromes (example: Angelman and Dup15q)",[57,58,26],"Epilepsy","Angelman Syndrome","RECRUITING","2024-04-02",{"date":62,"type":34},"2024-04-09",{"date":64,"type":34},"2024-02-13",{"date":66,"type":20},"2027-02-28",{"name":68,"class":41},"IRCCS Eugenio Medea","Dup15Q Syndrome"]