[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"neurodevelopmental-disorders-and-developmental-abnormalities\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:neurodevelopmental-disorders-and-developmental-abnormalities":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,39,65],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":21,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":27,"lastUpdatePostDateStruct":28,"startDateStruct":31,"completionDateStruct":33,"leadSponsor":35,"locationsCount":38},"100574699","transcriptomic-approach-for-the-identification-and-prioritization-of-genome-variants-in-neurodevelopmental-disorders-with-malformation-100574699",false,"NCT06762678","Transcriptomic Approach for the Identification and Prioritization of Genome Variants in Neurodevelopmental Disorders With Malformation","ATOMICS","Inclusion Criteria :\n\n* children or adult without any age limit, with neurodevelopmental disorders defined by :\n* between 0 and 5 years old with severe developmental delays regarding motor and\u002For language acquisitions, and\u002For social communication disorders,\n* \\> 6 years old with intellectual deficiency whatever the severity (with if available, neuropsychological evaluation), with potential associated manifestations such as epilepsy and\u002For autism, and\u002For behaviour troubles and\u002For attention deficit hyperactivity disorder ;\n* with developmental anomalies and\u002For dimorphism ;\n* without any evidence of clinical diagnosis\n* negative chromosomal microarray and\u002For exome sequencing\n* negative fragile X syndrome\n* skin biopsy feasible or RNA sample extracted from fibroblast culture, available to be used in a research context inside the lab center\n* consent obtained from the participant or, consent from legal representatives for a minor patient or a patient unable to consent\n* participant affiliated to the french security regimen or equivalent\n\nExclusion Criteria:\n\n* Neurodevelopmental disorders with developmental anomaly from non genetic causes or highly evident diagnosis for which a molecular test is available in routine practices and whose the cost is inferior than the cost of the genome and the RNA sequencing\n* unwillingness to participate, from the patient or from the legal representatives\n* Pregnant or lactating women","ALL",{"count":18,"type":19},58,"ESTIMATED","INTERVENTIONAL",[22],"NA","Three million persons in France are impacted by rare diseases. Amid the 7000 different diseases which are identified today, neurodevelopmental disorders are the main symptoms found interesting 35 000 birth every years, according to the French Health Authority. In half of these cases, patients are under 5 years old and a molecular diagnosis is only available in 50% of them, associated with a diagnostic wandering exceeding 5 years for 25% of every patients.\n\nHigh throughput DNA sequencing technologies are powerful tools to elucidate new causative variants. Although the diagnostic yield was refined by DNA-seq, data interpretation and technology limits remain the two major obstacles which still need be overcame. Missing a molecular diagnosis through a genomic approach alone highlight the need to integrate multi-omic approaches such as Ribonucleic Acid sequencing. This sequencing level allows new insight such like the evidence of aberrant gene expression, mono allelic allele expression, or abnormal alternative splicing. It makes possible too, to detect variants which are unable to be found via genome sequencing only.\n\nRecently, a diagnostic performance improvement has been described trough the association of the two technics, i.e. Ribonucleic Acid-seq and genome sequencing, in a context of neuromuscular diseases. However, only few studies were carry out on neurodevelopmental disorders in addition with malformative features. Angers's team demonstrated by the end of 2022, a diagnostic results enhancement by carrying genome sequencing plus Ribonucleic Acid-seq at the same time on patient with previously exome negative analysis. Moreover in 2023, Dekker et al. work shed light on a diagnostic yield improvement via the same analytic schema.\n\nIn face of those first observations, the ATOMICS study aims to evaluate the diagnostic contribution of Ribonucleic Acid-seq paired with genome sequencing in a trio way versus the genome sequencing in a solo way, to identify the find a final diagnosis for patient presenting neurodevelopmental disorders with developmental abnormalities and without an evident diagnosis after chromosome microarray and\u002For exome sequencing analysis.\n\nTo successfully carry out the ATOMICS study, investigators plan to recruit patient in a protocol considered with minimal risk and minimal constraints, to compare Ribonucleic Acid-seq performed on fibroblasts, in addition to genome sequencing in a solo or a trio manner, to trio genome sequencing alone, with the final objective in mind to obtain an etiology diagnostic for a patient presenting with neurodevelopmental disorders and development abnormalities.",[25],"Neurodevelopmental Disorders and Developmental Abnormalities","RECRUITING","2026-06-24",{"date":29,"type":30},"2026-06-29","ACTUAL",{"date":32,"type":30},"2025-11-04",{"date":34,"type":19},"2028-05-04",{"name":36,"class":37},"University Hospital, Angers","OTHER_GOV",7,{"id":40,"slug":41,"hasResults":11,"nctId":42,"briefTitle":43,"officialTitle":44,"acronym":45,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":47,"enrollmentInfo":48,"targetDuration":4,"studyType":20,"phases":50,"briefSummary":51,"conditions":52,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":54,"lastUpdatePostDateStruct":55,"startDateStruct":57,"completionDateStruct":59,"leadSponsor":61,"locationsCount":64},"100622746","effectiveness-of-the-copca-program-in-infants-at-risk-of-neurodevelopmental-disorders-100622746","NCT07387627","Effectiveness of the COPCA Program in Infants at Risk of Neurodevelopmental Disorders","Effectiveness of the Coping With and Caring for Infants With Special Needs Program in Infants at Risk of Neurodevelopmental Disorders. A Comparison With Conventional Pediatric Physiotherapy Models and Parent Training","COPCA","Inclusion Criteria:\n\n* Infants at risk of neurodevelopmental disorders.\n* Participation in pediatric physiotherapy and\u002For Early Intervention programs at the time of study inclusion, regardless of the reference center.\n* Corrected age under 12 months at the time of recruitment.\n\nExclusion Criteria:\n\n* Infants with confirmed neurodevelopmental disorders at the time of inclusion.\n* Presence of additional medical conditions requiring complex medical or surgical interventions that could interfere with participation in the study (e.g., recent or planned surgery).\n* Severe family socio-communicative difficulties that limit participation in coaching sessions (e.g., significant language barriers).","12 Months",{"count":49,"type":19},40,[22],"The purpose of this clinical trial is to evaluate whether the COPCA® program (Coping with and Caring for Infants with Special Needs) is more effective than conventional pediatric physiotherapy and parent education in improving development in infants at risk of neurodevelopmental disorders, as well as empowering their families.\n\nThis study will include infants younger than 12 months of corrected age who are at risk of neurodevelopmental disorders and are currently receiving early intervention or pediatric physiotherapy services, together with their parents or primary caregivers.\n\nThe main questions this study aims to answer are:\n\nDoes the COPCA® program improve motor development and functional abilities in infants at risk of neurodevelopmental disorders more than conventional pediatric physiotherapy or parent education?\n\nDoes the COPCA® program increase family empowerment and improve parents' perception of the care they receive compared with traditional intervention models?\n\nThe researchers will compare outcomes across four study groups:\n\nIn-person COPCA® intervention\n\nOnline COPCA® intervention\n\nParent education group\n\nConventional pediatric physiotherapy group\n\nParticipants will be randomly assigned to one of the four groups. The intervention period will last 6 months, with assessments conducted at the start of the study, during the intervention, and during follow-up.\n\nInfants will take part in age-appropriate daily activities and play situations. Parents or caregivers will actively participate in the intervention sessions and will be supported in learning how to promote their child's development during everyday routines.\n\nThe study will assess infant motor development, functional abilities, overall development, family empowerment, and parents' perception of family-centered care using validated assessment tools and interviews. The results of this study may help improve early intervention strategies for infants at risk of neurodevelopmental disorders and support more family-centered approaches to care.",[53,25],"Neurodevelopmental Disorders","2026-04-28",{"date":56,"type":30},"2026-04-29",{"date":58,"type":30},"2026-02-10",{"date":60,"type":19},"2027-06-01",{"name":62,"class":63},"University of Seville","OTHER",1,{"id":66,"slug":67,"hasResults":11,"nctId":68,"briefTitle":69,"officialTitle":70,"acronym":71,"eligibilityCriteria":72,"healthyVolunteers":11,"sex":16,"minAge":73,"maxAge":74,"enrollmentInfo":75,"targetDuration":4,"studyType":77,"phases":4,"briefSummary":78,"conditions":79,"keywords":101,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":64},"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.","4 Years","12 Years",{"count":76,"type":19},100,"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.",[53,80,25,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100],"Neurodevelopmental Disorders (NDD)","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",[102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,53,120,121,122,123,124,125],"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":128,"type":30},"2026-03-25",{"date":130,"type":30},"2026-03-01",{"date":132,"type":19},"2036-12-30",{"name":134,"class":63},"Healing Hope International"]