[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"neurodevelopmental-conditions\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:neurodevelopmental-conditions":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,46,85,116,161],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":27,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100625015","a-natural-history-study-of-angelman-syndrome-100625015",false,"NCT07417137","A Natural History Study of Angelman Syndrome","A Longitudinal Natural History Study of Adults and Children With Angelman Syndrome","GLOW-AS","Inclusion Criteria:\n\n* The participant has a primary clinical diagnosis of Angelman syndrome with documented genetic variation(s) affecting the function of the UBE3A gene within the human 15q11.2-q13.3 locus. Co-occurring conditions (e.g., autism spectrum disorder, cerebral palsy, intellectual disability) are permitted; however, Angelman syndrome must be the primary clinical diagnosis.\n* The participant is male or female (assigned sex at birth) and aged ≥1 year at the initial study visit.\n* The participant has a study partner who meets the study partner criteria below.\n* The participant, if unable to provide informed consent, has an appropriate surrogate who is at least 18 years of age and willing and able to provide informed consent on behalf of the participant in accordance with current International Council for Harmonisation (ICH) guidelines and applicable institutional regulations.\n\nIndividuals must satisfy the following criteria to be enrolled as study partners:\n\n* The study partner is a parent or primary caregiver who is at least 18 years of age.\n* The study partner has consistent contact with the participant and, in the opinion of the investigator, is sufficiently knowledgeable about the participant's ongoing condition to provide accurate and current information.\n* The study partner has sufficient English-language proficiency to complete study partner assessments.\n* The study partner is willing and able to provide informed consent on their own behalf in accordance with ICH guidelines and applicable institutional regulations.\n* The study partner is, in the opinion of the investigator, reliable and competent; willing and able to accompany the participant to all study visits and comply with study procedures; reachable by telephone or email as needed; and sufficiently knowledgeable about the participant's ongoing condition(s) to provide accurate and current information regarding the participant's health and well-being.\n\nExclusion Criteria:\n\n* The participant has at least one additional known genetic abnormality outside the human 15q11.2-q13.3 locus causing a probable or known developmental disability.\n* At least one standard-of-care treatment (medication or adjunctive therapy) used by the participant was changed during the 28 days (4 weeks) prior to the first study visit. Treatments include, but are not limited to, doses of anti-epileptic medications, behavioral management medications, sleep medications, gabapentin, cannabidiol, special diets, supplements, speech therapy, occupational therapy, applied behavioral analysis (ABA), psychosocial interventions, physical therapy, or nutritional support.\n* The participant has unstable epilepsy, defined as having an emergency department visit or hospitalization for seizure-related concerns within the 28 days (4 weeks) preceding the initial study visit.\n* The participant is of childbearing potential and is either pregnant, breastfeeding, or not using an adequate method of contraception; abstinence is acceptable.\n* The participant has a clinically relevant history of malignancy; clinically significant abnormal test results; clinically significant cardiovascular, hematologic, hepatic, muscular, neurologic, or renal disease; or has experienced other clinical events which, in the opinion of the investigator, render participation unsuitable.\n* The participant has a lifetime history of treatment with any cell- or gene-based therapy, including antisense oligonucleotides or gene-editing therapies.\n* The participant has received any investigational therapy other than a cell- or gene-based therapy within 28 days or 5 half-lives (whichever is longer) preceding the initial study visit.\n* The participant is currently enrolled or plans to enroll in an interventional study involving an investigational agent or device during the planned observation period.\n* The participant has a known contraindication to electroencephalography, actigraphy, or any other study procedure described in the schedule of assessments.\n* The participant or study partner is, in the opinion of the investigator, unsuitable for participation in any other way, including an inability to fulfill study requirements.","ALL","1 Year",{"count":20,"type":21},40,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to learn about the natural progression of Angelman syndrome (AS) in children and adults with a confirmed genetic diagnosis of AS. The main questions it aims to answer are:\n\n* How do developmental skills, such as communication, motor abilities, and adaptive behaviors, change over a 1-year period in people with AS?\n* Are there specific patterns in brain activity or sleep that are associated with changes in AS symptoms over time?\n\nParticipants will:\n\n* Attend 3 in-person and 2 virtual study visits over 1 year for assessments.\n* Complete tests and questionnaires about development, behaviors, and sleep with the help of their caregivers.\n* Undergo electroencephalograms (EEGs) to measure brain activity and wear a sleep-monitoring device at home (to collect actigraphy data).",[25,26],"Angelman Syndrome","Neurodevelopmental Conditions",[28,29,15,30,31,32],"Angelman syndrome","Angelman","AS","Natural History","Sleep","RECRUITING","2026-08-19",{"date":36,"type":37},"2026-08-21","ACTUAL",{"date":39,"type":21},"2026-08",{"date":41,"type":21},"2029-09",{"name":43,"class":44},"Massachusetts General Hospital","OTHER",1,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":52,"sex":17,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":57,"conditions":58,"keywords":62,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":78,"completionDateStruct":80,"leadSponsor":82,"locationsCount":45},"100639915","online-evaluation-of-the-diagnostic-accuracy-of-blinklabs-digital-assessments-for-autism-100639915","NCT07590973","Online Evaluation of the Diagnostic Accuracy of BlinkLab's Digital Assessments for Autism","Inclusion Criteria:\n\n1. Age: Children between 2 to 11 years old\n2. Parent\u002FCaregiver\u002FHealthcare Provider Concern: The child has received a diagnostic outcome of a neurodevelopmental assessment based on DSM-5 criteria within the past 12 months.\n3. Language Proficiency: Parents and subjects must have functional English capability in the home environment.\n4. Informed Consent: Parents must be able to read, understand, and voluntarily sign the Informed Consent Form (ICF).\n5. Videotaping: subjects must be willing to be videotaped during the diagnostic assessment by the BlinkLab App.\n\nExclusion Criteria:\n\n1. Device Compatibility: Parents without smartphone capabilities necessary for using the BlinkLab app.\n2. Previous Enrollment: Subjects who have been previously enrolled in any BlinkLab clinical study.\n3. Location of at home testing: Not being able to complete all remote at-home study sessions within the US.\n4. History of audiogenic seizures: Participants with a known history of seizures that are triggered by auditory stimuli, including reflex or startle epilepsy provoked by sounds (audiogenic seizures), or any other form of sound-induced epilepsy.",true,"2 Years","11 Years",{"count":56,"type":21},1000,"This observational study aims to evaluate how patterns of behavioral and sensorimotor responses measured using the BlinkLab Dx1 smartphone application relate to autism diagnoses in children ages 2 to 11. BlinkLab Dx1 is a non-invasive, smartphone-based application under development as a diagnostic aid for healthcare providers assessing autism.\n\nIn this study, children who have undergone a neurodevelopmental assessment within the past 12 months will complete two short, video-based sessions using the BlinkLab Dx1 app. The app presents visual and auditory stimuli and records reflexive sensorimotor responses and patterns of repetitive behavior. Additionally, primary caregivers will answer a short questionnaire in the app about symptoms and development. Information about prior neurodevelopmental assessments, including documented DSM-5-based diagnoses from routine clinical practice, will be collected retrospectively.\n\nThe study will examine how the app's neurobehavioral measurements relate to previously assigned clinical diagnoses. These paired data will be used to develop and evaluate a machine learning-based algorithm using separate training and testing datasets to assess whether patterns measured by BlinkLab Dx1 can help distinguish children with autism from children without an autism diagnosis.\n\nThis study does not involve any treatment or medical intervention.",[59,60,61,26],"Autism","Autism Spectrum Disorder","Autism Spectrum Disorder (ASD)",[60,59,63,26,64,65,66,67,68,69,70,71,72,73,74],"Autism Diagnosis","Pediatric Assessment","Digital Assessment","Mobile Application","Smartphone-based Assessment","Digital Health","Remote Study","Observational Study","Eye Movements","Repetitive Behavior","Reflexive Sensorimotor Behavior","Machine Learning","2026-05-11",{"date":77,"type":37},"2026-05-15",{"date":79,"type":37},"2025-02-15",{"date":81,"type":21},"2026-12-01",{"name":83,"class":84},"Blinklab Limited","INDUSTRY",{"id":86,"slug":87,"hasResults":11,"nctId":88,"briefTitle":89,"officialTitle":89,"acronym":90,"eligibilityCriteria":91,"healthyVolunteers":11,"sex":17,"minAge":92,"maxAge":93,"enrollmentInfo":94,"targetDuration":4,"studyType":96,"phases":97,"briefSummary":99,"conditions":100,"keywords":103,"overallStatus":106,"whyStopped":4,"lastUpdateSubmitDate":107,"lastUpdatePostDateStruct":108,"startDateStruct":110,"completionDateStruct":112,"leadSponsor":114,"locationsCount":4},"100590529","analysis-of-early-neurodevelopmental-alterations-in-bipolar-disorder-based-on-cortical-organoid-models-100590529","NCT06968598","Analysis of Early Neurodevelopmental Alterations in Bipolar Disorder Based on Cortical Organoid Models","BIPODEV","Inclusion Criteria:\n\n* Presence of bipolar disorder according to DSM-5 criteria\n* Able to freely give and sign consent\n* Affiliated or beneficiary of a health insurance plan\n* Previous participants in the NEMO study (2022-A00353-40)\n\nFor the \"neurodevelopmental bipolar\" (ND-BP) group: presence of a neurodevelopmental burden score in the top 5, as assessed in the NEMO project (NCT05674019).\n\nFor the \"non-neurodevelopmental bipolar\" group (TB): presence of a neurodevelopmental load score of 0, or in the lowest 5, as assessed in the NEMO project.\n\nExclusion Criteria:\n\n* \\- Presence of a severe symptomatic or unstable physiological or medical condition (including pregnancy)\n* History of psychiatric illness (stable or not), schizophrenia or any other pathology likely to interfere with bipolar disorder\n* History of severe head trauma (GCS\\\u003C8 at time of trauma)\n* Presence of a neurological disorder affecting central nervous system function\n* Presence of moderate to severe substance use disorders (\\>=4\u002F11 as defined in DSM-5), with the exception of tobacco use disorders.\n* The volunteer is under court protection or guardianship\n* It proves impossible to give the volunteer informed information, or the volunteer refuses to sign the consent form.\n* Insufficient command of the French language to complete evaluations","18 Years","60 Years",{"count":95,"type":21},10,"INTERVENTIONAL",[98],"NA","Demonstrate the existence of neurodevelopmental alterations in organoids derived from samples of patients with bipolar disorder (BD) with a neurodevelopmental (ND) component, compared with patients with bipolar disorder (BD) without an ND component.",[101,102,26],"Bipolar Disorder (BD)","Organoids",[104,105],"organoid","neurodevelopmental alterations","NOT_YET_RECRUITING","2025-05-05",{"date":109,"type":37},"2025-05-13",{"date":111,"type":21},"2025-06-01",{"date":113,"type":21},"2030-02-01",{"name":115,"class":44},"Assistance Publique Hopitaux De Marseille",{"id":117,"slug":118,"hasResults":11,"nctId":119,"briefTitle":120,"officialTitle":121,"acronym":4,"eligibilityCriteria":122,"healthyVolunteers":11,"sex":17,"minAge":123,"maxAge":124,"enrollmentInfo":125,"targetDuration":4,"studyType":96,"phases":126,"briefSummary":129,"conditions":130,"keywords":143,"overallStatus":106,"whyStopped":4,"lastUpdateSubmitDate":152,"lastUpdatePostDateStruct":153,"startDateStruct":155,"completionDateStruct":157,"leadSponsor":159,"locationsCount":45},"100588946","phase-1-safety-and-efficacy-of-aav9ap4b1-bfb-101-for-patients-with-ap4b1-related-hereditary-spastic-paraplegia-type-47-spg47-100588946","NCT06948019","Safety and Efficacy of AAV9\u002FAP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)","Safety and Efficacy of AAV9\u002FAP4B1 For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1\u002F2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration","Inclusion Criteria:\n\n1. Male and females between the ages of 12 months - 5 years at the time of treatment\n2. A molecularly confirmed diagnosis of SPG47 (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating bi-allelic pathogenic variants in the AP4B1 gene.\n3. Proband must have features of neurologic dysfunction by clinical history and physical examination.\n4. Stable doses of concomitant medications such as anti-spasticity medications, anti-epileptic medications, behavioral management medications, sleep medications, and special diets, supplements or nutritional support for at least 3 months prior to Screening. If recent changes (\\\u003C 3 months) in medications, the participant may be allowed per Investigator judgement.\n5. Proband must be fully vaccinated per Centers for Disease Control recommendations for childhood vaccinations.\n6. Two competent custodial parents\u002Fguardians with legal capacity (legally acceptable representatives) to execute an Institutional Review Board\u002FIndependent Ethics Committee (IRB\u002FIEC) approved consent for medical research must be able to participate in the consent process. If only one parent has sole custody to consent for medical research, then that parent must be able to actively participate in the consent process.\n7. Legally acceptable representatives must be able to attend all scheduled study visits and provide feedback regarding the participant's symptoms and performance as described in the protocol.\n8. Legally acceptable representatives agree not to post any of the participant's personal medical data or information related to the study on any website or social media site (e.g., Facebook, Instagram, Twitter, YouTube, etc.) until notified that the study is completed.\n9. Proband and the proband's family must demonstrate ability to travel to the study center. For the first 30 days post treatment probands will need to stay within a 100-mile radius from the treatment center.\n\nExclusion Criteria:\n\n1. Inability to participate in the clinical evaluation as determined by the principal investigator.\n2. Clinically significant abnormal laboratory values (hemoglobin \\\u003C 8 or \\> 20 g\u002FdL; white blood cell \\> 20,000 per cmm, platelets count \\\u003C 100,000 per cmm; international normalized ratio \\[INR\\] \\> upper limit of normal \\[ULN\\]; gamma-glutamyl transferase \\[GGT\\], alanine aminotransferase \\[ALT\\], and aspartate aminotransferase \\[AST\\] or total bilirubin \\> 1.5 × ULN, creatinine\n\n   ≥ 1.5 mg\u002FdL) prior to gene replacement therapy.\n3. Presence of a concomitant medical condition that precludes a cisterna magna or lumbar puncture or use of anesthetics for sedated procedures.\n4. Bleeding disorder or any other medical condition or circumstance in which a cisterna magna or lumbar puncture is contraindicated according to local institutional policy.\n5. Documented cardiomyopathy or significant congenital heart abnormalities.\n6. Inability to be safely sedated in the opinion of the clinical anesthesiologist.\n7. History of severe\u002Flife-threatening allergic reaction to sirolimus, tacrolimus, corticosteroids, or gadolinium.\n8. Any known history and\u002For family history of hemophagocytic lymphohistiocytosis (HLH) or multisystem inflammatory syndrome (MIS)\n9. Concomitant illness or requirement for chronic drug treatment that in the opinion of the investigator creates unnecessary risks for gene transfer.\n10. Concomitant chronic drug treatment that would cause clinically significant interactions with immunosuppressive agents used in the study.\n11. Any item which would exclude the participant from being able to undergo magnetic resonance imaging (MRI) according to local institutional policy.\n12. Any other situation that would exclude the participant from undergoing any other procedure required in this study.\n13. Visual or hearing impairment sufficient to preclude cooperation with neurodevelopmental testing.\n14. The presence of significant non-SPG47 related central nervous system (CNS) impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study.\n15. Recent or planned elective surgical procedures that would confound the scientific rigor or interpretation of results of the study, as determined by the Investigator\u002Fstudy team.\n16. Failure to obtain appropriate informed consent.\n17. Reason to believe that the participant or parents\u002Fguardians of the participant will not comply with the study procedures outlined in the study protocol.\n18. Receiving a live vaccine within 30 days prior to gene transfer.\n19. Receiving an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study.\n20. Enrollment and participation in another interventional clinical trial.","12 Months","60 Months",{"count":5,"type":21},[127,128],"PHASE1","PHASE2","Safety and Efficacy of AAV9\u002FAP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1\u002F2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.\n\nThe goal of this clinical trial is to evaluate whether a gene therapy can safely treat children with SPG47, a rare genetic condition that causes progressive spasticity and developmental delays. The main questions it aims to answer are:\n\n* Is the gene therapy safe and well tolerated?\n* Does the gene therapy improve motor function and developmental outcomes?\n\nParticipants will:\n\n* Undergo screening assessments to confirm eligibility\n* Receive a single dose of the gene therapy vector\n* Attend follow-up visits for safety monitoring and developmental assessments over the course of five years",[131,132,133,134,135,136,137,138,139,140,26,141,142],"HSP","Hereditary Spastic Paraplegia","Hereditary Spastic Paraparesis","Hereditary Spastic Paraplegia Type 50","Hereditary Spastic Paraplegia Type 47","Hereditary Spastic Paraplegia Type 51","Hereditary Spastic Paraplegia Type 52","SPG47","AP4B1","Neurogenetic Disorders","Movement Disorders","Gene Therapy",[131,132,134,135,136,137,133,144,142,145,138,139,146,147,148,149,150,151],"Spasticity","AAV9","AP4M1","AP4E1","AP4S1","movement disorders","neurogenetic conditions","neurodevelopmental conditions","2025-04-22",{"date":154,"type":37},"2025-04-28",{"date":156,"type":21},"2025-08",{"date":158,"type":21},"2032-08",{"name":160,"class":84},"BlackfinBio Ltd",{"id":162,"slug":163,"hasResults":11,"nctId":164,"briefTitle":165,"officialTitle":166,"acronym":167,"eligibilityCriteria":168,"healthyVolunteers":52,"sex":17,"minAge":169,"maxAge":170,"enrollmentInfo":171,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":173,"conditions":174,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":177,"lastUpdatePostDateStruct":178,"startDateStruct":180,"completionDateStruct":182,"leadSponsor":184,"locationsCount":45},"100396521","brain-imaging-in-babies-study-100396521","NCT04443179","Brain Imaging in Babies Study","Brain Imaging and Infant Development","BIBS","Inclusion Criteria:\n\n* Pregnant mothers with and without confirmed COVID-19\n* Infants with and without an immediate family history of Autism Spectrum and neurodevelopmental conditions\n* Based in England, UK\n\nExclusion Criteria:\n\n* based on further screening","16 Years","75 Years",{"count":172,"type":21},790,"The aims of the BIBS Study\n\nThe Brain Imaging in Babies study (BIBS) aims to improve understanding of how a baby's brain develops from before birth, up until 3-4 years of age. Working with children from a variety of backgrounds and communities, the investigators use a combination of state-of-the-art diagnostic tools such as MRI scans alongside traditional behavioural assessments to capture the earliest information on infant brain development.\n\nThe focus of the BIBS study\n\nMRI scanning is a safe way of producing detailed images using strong magnetic fields and radio waves. It does not use X-ray. Along with learning more about brain development in general, the investigators also try to identify features that may in future help predict whether a child will or will not develop traits of conditions such as Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). Long-term, this may help target useful interventions early on, helping children who are most in need.\n\nSince COVID-19 arrived in the United Kingdom (U.K.) in 2020, the investigators have been given ethical approval to include testing for this infection in the mothers and children participating in the study. This may provide an opportunity to better understand how mother and baby respond to infections. The investigators particularly welcome mothers who have had a positive COVID-19 test during their pregnancy to join the study.",[60,175,26,176],"Attention Deficit Hyperactivity Disorder","COVID-19","2024-03-04",{"date":179,"type":37},"2024-03-05",{"date":181,"type":37},"2013-04-05",{"date":183,"type":21},"2028-05",{"name":185,"class":44},"King's College London"]