[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"neurodevelopmental-disorders-ndd\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:neurodevelopmental-disorders-ndd":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,87],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":49,"overallStatus":74,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":79,"completionDateStruct":81,"leadSponsor":83,"locationsCount":86},"100630855","intensive-multimodal-neurorehabilitation-targeting-neuroplasticity-in-pediatric-neurodevelopmental-and-chromosomal-disorders-100630855",false,"NCT07493096","Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders","Functional and Neurodevelopmental Outcomes Following Intensive Multimodal Neurorehabilitation in Pediatric Patients With Neurodevelopmental Disorders, Including Chromosomal Abnormalities","GEN-HOPE","Inclusion Criteria:\n\n* Pediatric participants between approximately 4 and 12 years of age at the time of enrollment.\n* Diagnosed with or presenting with neurodevelopmental, neurologic, or genetic conditions, including but not limited to:\n\n  * cerebral palsy\n  * autism spectrum disorder\n  * developmental delay\n  * hypoxic ischemic encephalopathy (HIE)\n  * traumatic brain injury\n  * sensory processing disorder\n  * chromosomal or genetic abnormalities\n  * Demonstrate functional impairments in one or more neurodevelopmental domains, including:\n* motor coordination or motor planning\n* sensory processing\n* attention or executive functioning\n* oculomotor or visual processing\n* communication\n* emotional or behavioral regulation\n* activities of daily living\n* Enrolled in and able to participate in a two-week intensive therapy program consisting of approximately 2.5 hours per day\u002F 5 days per week\n\n  * Able to complete baseline and post-program clinical assessment using clinician-observed or caregiver-reported measures.\n  * Parent or legal guardian able to provide informed consent and participate in reporting functional outcomes when applicable.\n\nExclusion Criteria:\n\n* Medical instability or acute medical condition that would prevent safe participation in an intensive therapy program.\n* Severe uncontrolled seizure activity or other neurologic condition that would interfere with participation in structured therapeutic activities, as determined by the treating clinician.\n* Behavioral or psychological conditions that would prevent safe engagement in the therapy environment despite appropriate support.\n* Inability to attend or complete the full two-week intensive program.\n* Lack of sufficient baseline or post-intervention data to assess change in functional performance.\n* Concurrent participation in another structured intervention or clinical study that would confound interpretation of functional outcomes, at the discretion of the investigator.","ALL","4 Years","12 Years",{"count":21,"type":22},100,"ESTIMATED","OBSERVATIONAL","This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program. The program is designed for children with neurodevelopmental disorders, including but not limited to cerebral palsy, autism spectrum disorder, developmental delay, hypoxic ischemic encephalopathy (HIE), and chromosomal or genetic abnormalities.\n\nParticipants receive individualized therapy sessions for approximately 2.5 hours per day over a two week period. The intervention is not standardized but is tailored to each child's specific needs and may include components such as sensory integration, motor planning, reflex integration, oculomotor training, executive functioning activities, communication support, and other brain based therapeutic approaches.\n\nThe purpose of this study is to observe changes in functional abilities, including attention, motor coordination, emotional regulation, communication, and activities of daily living. Outcomes are assessed using clinician observation and parent reported changes before and after the intensive program, with limited follow-up when available.\n\nThis study does not assign participants to a specific treatment as part of a research protocol. Instead, it collects real world data from children already participating in a clinical therapy program to better understand potential benefits of intensive, individualized neurorehabilitation approaches.",[26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48],"Neurodevelopmental Disorders","Neurodevelopmental Disorders (NDD)","Neurodevelopmental Disorders and Developmental Abnormalities","Developmental Delay (Disorder)","Cerebral Palsy (CP)","Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment","Cerebral Palsy Infantile","Cerebral Palsy Spastic Hemiplegic","Cerebral Palsy, Dyskinetic","Autism Spectrum Disorder","Autism Spectrum Disorder (ASD","Hypoxic Ischemic Encephalopathy","Hypoxic Ischemic Encephalopathy (HIE)","Traumatic Brain Injury (TBI)","Sensory Processing Disorder","Chromosomal Abnormalities","Genetic Disorders","Down Syndrome (Trisomy 21)","Fragile X Syndrome (FXS)","RETT Syndrome With Proven MECP2 Mutation","Williams Syndrome","22q11.2 Deletion Syndrome","Sensorimotor Integration",[50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,26,68,69,70,71,72,73],"Photobiomodulation","Low-Level Laser Therapy","Vibration Therapy","Tactile Stimulation","Cognitive Training","Behavioral Therapy","Intensive Therapy","Pediatric Neurorehabilitation","Multimodal Therapy","Neuroplasticity","Sensory Integration","Reflex Integration","Motor Planning","Executive Function","Emotional Regulation","Functional Outcomes","Activities of Daily Living","High Frequency Therapy","Rehabilitation","Child Development Disorders","Occupational Therapy","Physical Therapy Modalities","Early Intervention","Cognitive Therapy","RECRUITING","2026-03-19",{"date":77,"type":78},"2026-03-25","ACTUAL",{"date":80,"type":78},"2026-03-01",{"date":82,"type":22},"2036-12-30",{"name":84,"class":85},"Healing Hope International","OTHER",1,{"id":88,"slug":89,"hasResults":11,"nctId":90,"briefTitle":91,"officialTitle":92,"acronym":93,"eligibilityCriteria":94,"healthyVolunteers":11,"sex":17,"minAge":95,"maxAge":96,"enrollmentInfo":97,"targetDuration":4,"studyType":99,"phases":100,"briefSummary":102,"conditions":103,"keywords":106,"overallStatus":112,"whyStopped":4,"lastUpdateSubmitDate":113,"lastUpdatePostDateStruct":114,"startDateStruct":116,"completionDateStruct":118,"leadSponsor":120,"locationsCount":5},"100629047","characterization-of-the-natural-history-of-microduplication-syndrome-7q1123-100629047","NCT07469566","Characterization of the Natural History of Microduplication Syndrome 7q11.23","Characterization of the Natural History of Microduplication Syndrome","HINADU7","Inclusion Criteria:\n\n* Diagnosis of 7q11.23 microduplication confirmed by Chromosomal Microarray Analysis or qPCR.\n* Aged \\> 5 to \\\u003C 50 years\n* Whose maternal language is French\n* Having signed the informed consent and\u002For for whom parents\u002Flegal guardian have signed the informed consent.\n* Affiliated to national Health Insurance system (sécurité sociale) or parents\u002Flegal guardian affiliated to national health insurance system Each 7DUP patient will be matched to a sex- and chronological age-matched control. Data from controls will come from the CREAT\\_criteria study (NCT 06018519). Each 7DUP patient will be matched to a sex- and mental age-matched control. Data from controls will come from the CREAT\\_criteria study (NCT 06018519).\n\nExclusion Criteria:\n\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to sign the informed consent\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to be informed of possible abnormalities detected during the neuropsychological assessment.\n\nRegarding specifically the neuroimaging data (MRI):\n\n* Having a contraindication to the MRI examination (people using a pacemaker or an insulin pump, people wearing a metal prosthesis or an intracerebral clip, and claustrophobic subjects).\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to be informed of possible abnormalities detected by MRI.","5 Years","50 Years",{"count":98,"type":22},15,"INTERVENTIONAL",[101],"NA","7q11.23 duplication syndrome (7q duplication syndrome\u002F7DUP) is caused by a microduplication of the 7q11.23 chromosomal region, encompassing 26-28 genes, including the GTF2I gene. This syndrome, often considered as a \"mirror\" phenotype of Williams-Beuren syndrome (WBS), is characterized by a wide range of neurodevelopmental impairments, including a neurodevelopmental disorder (NDD), autism spectrum disorders (ASD), selective mutism, mild dysmorphic features, and aortic dilation. Notably, one of the core clinical features of 7DUP is socialization impairment, which varies in severity across individuals.\n\nThe GTF2I gene, identified as critical in the pathogenesis of both WBS and 7DUP, exhibits opposite expression patterns in the two syndromes, with reduced expression in WBS and overexpression in 7DUP. The gene's dysregulation in 7DUP plays a pivotal role in the pathogenesis of the associated NDD and social deficits. Despite progress in characterizing the genetic underpinnings of 7DUP, there remains a critical gap in understanding the developmental trajectory of socialization impairments in affected individuals, especially during their transition through different developmental stages, from early childhood to adulthood.\n\nRecent advancements in the study of neuronal models derived from induced pluripotent stem cells (iPSCs) and brain organoids have shed light on the molecular mechanisms driving 7DUP-related NDDs. Histone deacetylase inhibitors (HDAC inhibitors), which have been widely used in oncology, have shown promising preliminary results in reducing abnormal GTF2I expression in glutamatergic neurons differentiated from 7DUP patient-derived iPSCs. Preclinical studies in mouse models further demonstrated that these drugs can ameliorate socialization deficits, highlighting their therapeutic potential in addressing the core neurodevelopmental challenges in 7DUP.\n\nHowever, despite these advancements, no longitudinal clinical studies have characterized the developmental trajectory of socialization impairments in 7DUP patients. Understanding this trajectory is critical, as it can inform the timing and potential impact of therapeutic interventions, such as HDAC inhibitors. Given the complexity and variability of the 7DUP phenotype, a comprehensive clinical characterization of socialization impairments across the lifespan is essential to improve diagnostic accuracy, optimize intervention strategies, and ultimately improve patient outcomes.\n\nThe aim of this research is to characterize the developmental trajectory of socialization impairments in patients with 7DUP, from early childhood through adulthood. By identifying patterns of socialization difficulties, this innovative study will allow to efficiently prepare future therapeutic trials, by specifying the phenotype of the patients, and by determining the most relevant outcome measures, taking into account, on one hand, their neurodevelopmental involvement and, on the other hand, the type of experimental design to be used in the context of rare diseases.",[104,105,27],"7q11.23 Microduplication Syndrome (7DUP)","Autism Spectrum Disorder (ASD)",[107,108,109,110,111],"7q11.23 microduplication","7DUP syndrome","neurodevelopmental disorders","autism spectrum disorder","ASD","NOT_YET_RECRUITING","2026-03-10",{"date":115,"type":78},"2026-03-13",{"date":117,"type":22},"2026-03-15",{"date":119,"type":22},"2027-07-15",{"name":121,"class":85},"Hospices Civils de Lyon"]