[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"22q112-deletion-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:22q112-deletion-syndrome":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,50,122,148,173],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":31,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100642613","the-advance-assay-development-and-validation-for-pre-natal-and-obstetric-conditions-study-is-the-largest-us-based-prospective-study-demonstrating-a-circulating-fetal-cell-cfc-based-approach-to-non-invasive-fetal-risk-assessment-100642613",false,"NCT07643896","The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment","ADVANCE Study: Assay Development and Validation for Pre-Natal and Obstetric Conditions","ADVANCE","Inclusion Criteria:\n\n* pregnant individuals between 10 and 20 weeks of gestation\n* singleton gestation\n\nExclusion Criteria:\n\n\\- active cancer","FEMALE",{"count":19,"type":20},1000,"ESTIMATED","OBSERVATIONAL","The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of prenatal invasive diagnostic testing or postnatal genetic and clinical diagnosis of the resulting neonate. This is a prospective study of pregnant individuals.",[24,25,26,27,28,29,30],"Pregnant Individuals","Aneuploidy","Down Syndrome (Trisomy 21)","22q11.2 Deletion Syndrome","Trisomy 13","Trisomy 18","Sex Chromosome Abnormalities",[32,33,34,35,36],"pregnant","aneuploidy","NIPT","NIPS","circulating fetal cell","RECRUITING","2026-06-10",{"date":40,"type":41},"2026-06-12","ACTUAL",{"date":43,"type":41},"2026-01-10",{"date":45,"type":20},"2028-06",{"name":47,"class":48},"BillionToOne Inc.","INDUSTRY",6,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":56,"eligibilityCriteria":57,"healthyVolunteers":11,"sex":58,"minAge":59,"maxAge":60,"enrollmentInfo":61,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":63,"conditions":64,"keywords":86,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":111,"lastUpdatePostDateStruct":112,"startDateStruct":114,"completionDateStruct":116,"leadSponsor":118,"locationsCount":121},"100630855","intensive-multimodal-neurorehabilitation-targeting-neuroplasticity-in-pediatric-neurodevelopmental-and-chromosomal-disorders-100630855","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":62,"type":20},100,"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.",[65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,26,82,83,84,27,85],"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","Fragile X Syndrome (FXS)","RETT Syndrome With Proven MECP2 Mutation","Williams Syndrome","Sensorimotor Integration",[87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,65,105,106,107,108,109,110],"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","2026-03-19",{"date":113,"type":41},"2026-03-25",{"date":115,"type":41},"2026-03-01",{"date":117,"type":20},"2036-12-30",{"name":119,"class":120},"Healing Hope International","OTHER",1,{"id":123,"slug":124,"hasResults":11,"nctId":125,"briefTitle":126,"officialTitle":127,"acronym":128,"eligibilityCriteria":129,"healthyVolunteers":130,"sex":58,"minAge":59,"maxAge":131,"enrollmentInfo":132,"targetDuration":4,"studyType":134,"phases":135,"briefSummary":137,"conditions":138,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":139,"lastUpdatePostDateStruct":140,"startDateStruct":142,"completionDateStruct":144,"leadSponsor":146,"locationsCount":121},"100411581","understanding-of-psychotic-disorders-in-children-with-22q112ds-100411581","NCT04639388","Understanding of Psychotic Disorders in Children With 22q11.2DS","Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old","PremiCeS22","Inclusion Criteria:\n\n* Diagnosis of 22q11.2 deletion syndrome or no developmental disease\n* Aged from 4 to 13 years old\n* French language\n\nExclusion Criteria:\n\n* Diagnosis of intellectual deficiency according to DSM 5 criteria\n* Drug prescribed for somatic condition that could influence cerebral functioning",true,"13 Years",{"count":133,"type":20},80,"INTERVENTIONAL",[136],"NA","The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome",[27],"2025-07-29",{"date":141,"type":41},"2025-07-30",{"date":143,"type":41},"2020-11-13",{"date":145,"type":20},"2026-09-30",{"name":147,"class":120},"Hôpital le Vinatier",{"id":149,"slug":150,"hasResults":11,"nctId":151,"briefTitle":152,"officialTitle":153,"acronym":4,"eligibilityCriteria":154,"healthyVolunteers":11,"sex":58,"minAge":4,"maxAge":4,"enrollmentInfo":155,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":156,"conditions":157,"keywords":159,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":164,"lastUpdatePostDateStruct":165,"startDateStruct":167,"completionDateStruct":169,"leadSponsor":171,"locationsCount":121},"100099463","examining-genetic-factors-that-affect-the-severity-of-22q112-deletion-syndrome-100099463","NCT00556530","Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome","Genetic Modifiers of 22q11.2 Deletion Syndrome","Inclusion Criteria:\n\n* Has 22q11 deletion of 3 megabases (Mb)\n\nExclusion Criteria:\n\n* Has 22q11 deletion smaller than 3 Mb or no deletion",{"count":19,"type":20},"22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.",[158,27],"DiGeorge Syndrome",[160,161,162,163],"Congenital Heart Defects","Single Nucleotide Polymorphisms","Copy Number Variations","Whole Genome Association Study","2025-07-17",{"date":166,"type":41},"2025-07-22",{"date":168,"type":4},"2016-07",{"date":170,"type":20},"2029-06",{"name":172,"class":120},"Albert Einstein College of Medicine",{"id":174,"slug":175,"hasResults":11,"nctId":176,"briefTitle":177,"officialTitle":178,"acronym":179,"eligibilityCriteria":180,"healthyVolunteers":11,"sex":58,"minAge":181,"maxAge":182,"enrollmentInfo":183,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":185,"conditions":186,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":188,"lastUpdatePostDateStruct":189,"startDateStruct":191,"completionDateStruct":193,"leadSponsor":195,"locationsCount":121},"100510277","early-scoliotic-changes-in-children-at-increased-risk-for-scoliosis-development-100510277","NCT05924347","Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development","Longitudinal MRI Study to Catch EARLY Scoliotic Changes of the Bone and Intervertebral Disc in Younger Sisters and Daughters of Adolescent Idiopathic Scoliosis Patients and the 22q11.2DS Population.","EARLYBIRD","Inclusion Criteria:\n\nCohort 1:\n\n* Female,\n* 8, 9 or 10 years old\n* An older sibling, twin or parent diagnosed with AIS\n\nCohort 2:\n\n* Diagnosed with 22q11.2DS\n* Girls: 8, 9 or 10 years old.\n* Boys: 9, 10 or 11 years old.\n\nAll\n\n* No clinical signs of scoliosis at inclusion (physical examination by forward bending test and Bunnell Scoliometer assessment with a cut-off value of 7°.\n* Written informed consent of parents\u002Flegal representatives.\n\nExclusion Criteria:\n\n* Contraindications for MR imaging\n* Early-onset scoliosis or other spinal deformities\n* Other syndromes or neuromuscular disease associated with scoliosis\n* Clinical signs of \\>1cm leg length discrepancy\n* Other diseases or injuries, that are related to abnormal spinal growth, posture, activity levels, or scoliosis development.","8 Years","11 Years",{"count":184,"type":20},120,"Rationale: Despite several decades of research, the exact etiology of adolescent idiopathic scoliosis (AIS) remains unclear. In AIS, spine curvature begins with and progresses during the adolescent growth spurt. Previous studies are only performed on populations with already established scoliosis and normal spinal growth (of bone and IVD tissue) during adolescence has also not been defined. Growth pattern differences may exist between scoliotic and nonscoliotic subjects. Previous studies support the hypothesis that AIS is a spinal deformity that starts with decompensation in the IVD and is linked to sagittal spinal alignment. However, to understand its cause and pathogenic mechanism, the changes to the adolescent spine must be assessed longitudinally during the growth period coinciding with the period prior to and during the onset of AIS. Ideally this should include a cohort who do and do not develop AIS and their assessment must be minimally harmful, without radiation exposure. Certain populations are at increased risk for scoliosis development (i.e. girls with family members with scoliosis and 22q11.2DS patients). New imaging modalities (boneMRI, 3D spinal ultrasound) allow for non-radiographic monitoring of spinal growth.",[187,27],"Adolescent Idiopathic Scoliosis","2023-06-20",{"date":190,"type":41},"2023-06-29",{"date":192,"type":41},"2023-06-16",{"date":194,"type":20},"2032-05-01",{"name":196,"class":120},"UMC Utrecht"]