[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"brain-malformation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:brain-malformation":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,45,77],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":17,"sex":18,"minAge":19,"maxAge":20,"enrollmentInfo":21,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":25,"conditions":26,"keywords":29,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100567981","airframe-artificial-intelligence-for-recognition-of-fetal-brain-anomalies-at-second-trimester-fetal-brain-scan-100567981",false,"NCT06675266","AIRFRAME: Artificial Intelligence for Recognition of Fetal bRain AnoMaliEs at Second Trimester Fetal Brain Scan","Development of an Artificial Intelligence Algorithm to Recognize Abnormal Findings at Routine Fetal Brain Ultrasound. AIRFRAME (Artificial Intelligence for Recognition of Fetal bRain AnoMaliEs)","AIRFRAME","Inclusion Criteria:\n\n* Women with singleton pregnancies undergoing ultrasound examination between 19+0 - 22+6 weeks of gestation\n\nExclusion Criteria:\n\n* Women who did not have the second trimester screening scan at the settled gestational age.\n* Women in which a good visualization of the transventricular, transthalamic and transcerebellar plane of the fetal head was not technically possible.\n* Women who are not able to give the informed consent.",true,"FEMALE","18 Years","60 Years",{"count":22,"type":23},10000,"ESTIMATED","OBSERVATIONAL","Obstetric ultrasound represents the standard of care for the screening of the fetal anomalies. However, its performance is dependent upon several parameters including type of anomaly, gestational age, maternal habitus and skills of the examiner. The use of Artificial Intelligence (AI) in medical diagnostics has been suggested not only to reduce the inter- and intra-operator variability, but also to compress the required time necessary to perform routine tasks, hence optimizing healthcare resources. Fetal brain abnormalities are among the most challenging fetal congenital anomalies in terms of ultrasound diagnosis, prenatal counseling and management. The access to new sources of technology, i.e. AI, has the potential to improve recognition, detection and localization of brain malformations. Therefore, we propose to develop an AI-based software, which would be capable to recognize the brain structures at antenatal ultrasound and discriminate between normal and abnormal fetal brain anatomy through fully automatic data processing.",[27,28],"Fetal Anomalies","Brain Malformation",[30,28,31],"Fetal Brain Anomaly","Second trimester ultrasound Scan","RECRUITING","2024-11-04",{"date":35,"type":36},"2024-11-05","ACTUAL",{"date":38,"type":36},"2023-04-30",{"date":40,"type":23},"2026-12-30",{"name":42,"class":43},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS","OTHER",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":52,"minAge":4,"maxAge":53,"enrollmentInfo":54,"targetDuration":56,"studyType":24,"phases":4,"briefSummary":57,"conditions":58,"keywords":61,"overallStatus":67,"whyStopped":4,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":71,"completionDateStruct":73,"leadSponsor":75,"locationsCount":4},"100559181","the-role-of-csf-in-chiari-ii-brain-malformation-100559181","NCT06560788","The Role of CSF in Chiari II Brain Malformation","Chiari II Brain Malformation: The Role of Cerebrospinal Fluid in Neurodevelopmental Defects Associated With Spina Bifida","Inclusion Criteria:\n\nNewborns with Spina Bifida (Postnatal Closure)\n\n* Diagnosed with open spina bifida (myelomeningocele).\n* Scheduled for postnatal surgical closure of the spinal lesion at Great Ormond Street Hospital (GOSH).\n* Age: Between 1 day to 1 year old.\n\nControl Group 1 (Newborns with Hydrocephalus)\n\n* Newborns scheduled for shunt surgery for hydrocephalus unrelated to spina bifida.\n* Age and sex matched to the spina bifida newborns as closely as possible.\n* Age: Between 1 day to 1 year old.\n\nControl Group 2 (Infants with Spinal Conditions Unrelated to Spina Bifida)\n\n* Infants undergoing paned spinal surgery for conditions such as spinal lipoma, fatty filum, tethered cord, etc.\n* Age and sex matched to the spina bifida newborns as closely as possible.\n* Age: Between 1 day to 1 year old. Fetuses with Spina Bifida (Prenatal Closure)\n* Prenatal diagnosis of spina bifida (myelomeningocele) and scheduled for fetal surgery at UCLH.\n* Reviewed by Mr Thompson at his outpatient clinic at GOSH\n* Gestational age: Between 22 and 24 weeks.\n\nControl Fetal Samples\n\n* Aborted fetuses within the gestational age range of 22-24 weeks.\n* Samples obtained through the Human Developmental Biology Resource (HDBR).\n\nMouse Models\n\n* Genetic mouse model of spina bifida (Cdx2Cre x Pax3flox).\n* At embryonic day (E)13.5 (end of the embryonic period) and E18.5 (just before birth)\n\nControl Mouse Models\n\n* Normal (wild-type) mice to serve as controls.\n* Normal brain development\n* At embryonic day (E)13.5 (end of the embryonic period) and E18.5 (just before birth)\n\nExclusion Criteria:\n\nNewborns with Spina Bifida (Postnatal Closure)\n\n* Newborns who have undergone previous surgical intervention.\n* Presence of additional unrelated congenital anomalies that could affect cerebrospinal fluid (CSF) composition like meningitis or intraventricular bleeding\n* Older than 1 year and 1 month of age.\n* Parents refused to participate\n* Native language different to English with no translation services available\n\nControl Group 1 (Newborns with Hydrocephalus)\n\n* Newborns with hydrocephalus caused by spina bifida.\n* Presence of intraventricular infection or haemorrhage.\n* Older than 1 year and 1 month of age.\n* Parents refused to participate\n* Native language different to English with no translation services available\n\nControl Group 2 (Infants with Spinal Conditions Unrelated to Spina Bifida)\n\n* Infants who were born with spina bifida\n* Infants with coexisting conditions that could affect CSF composition like intraspinal tumours, empyema or haemorrhage.\n* Older than 1 year and 1 month of age.\n* Parents refused to participate\n* Native language different to English with no translation services available\n\nFetuses with Spina Bifida (Prenatal Closure)\n\n* Fetuses with additional major anomalies unrelated to spina bifida like diaphragmatic hernia.\n* Gestational age outside the range of 22-24 weeks.\n* Surgery performed by other neurosurgery team (not GOSH)\n* Parents refused to participate\n* Native language different to English with no translation services available\n\nControl Fetal Samples\n\n* Poorly preserved aborted fetuses not suitable for CSF collection.\n* Gestational age outside the range 22-24 weeks.\n\nMouse Models\n\n* Mice with any genetic modifications other than those specified for the spina bifida model.\n* Mice with other congenital or acquired anomalies affecting the central nervous system.\n\nControl Mouse Models\n\n● Mice with any genetic modifications or health conditions that could influence the study's outcomes.","ALL","1 Year",{"count":55,"type":23},18,"1 Day","Spina bifida, particularly its most severe form known as open spina bifida (myelomeningocele), is a significant congenital disorder that results in profound neurological impairments, including Chiari II malformation. This malformation is associated with the downward displacement of the cerebellum and brainstem into the spinal canal, often leading to hydrocephalus, a condition where cerebrospinal fluid (CSF) accumulates in the brain1. These conditions can result in a range of complications, including cognitive and motor disabilities, learning difficulties, and, in severe cases, early mortality1,2.\n\nWhile surgical interventions, including prenatal and postnatal surgeries, have been developed to manage the physical manifestations of spina bifida and Chiari II malformation, these procedures have not been fully successful in addressing the associated brain anomalies3. This study aims to explore the hypothesis that the composition of CSF plays a critical role in the development of these brain defects. Specifically, it is hypothesized that the rapid replenishment of CSF, due to its leakage from the open spine in spina bifida, results in a \"less mature\" fluid composition, which negatively affects neurogenesis and neuronal migration during critical periods of brain development.",[59,28,60],"Myelomeningocele","Chiari Malformation Type 2",[62,63,64,65,66],"myelomeningocele","Chiari type 2","brain malformations","cognitive impairment","cerebrospinal fluid","NOT_YET_RECRUITING","2024-08-19",{"date":70,"type":36},"2024-08-21",{"date":72,"type":23},"2024-09-01",{"date":74,"type":23},"2027-08-01",{"name":76,"class":43},"University College, London",{"id":78,"slug":79,"hasResults":11,"nctId":80,"briefTitle":81,"officialTitle":81,"acronym":4,"eligibilityCriteria":82,"healthyVolunteers":11,"sex":52,"minAge":4,"maxAge":4,"enrollmentInfo":83,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":85,"conditions":86,"keywords":90,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":44},"100061146","human-epilepsy-genetics--neuronal-migration-disorders-study-100061146","NCT00041600","Human Epilepsy Genetics--Neuronal Migration Disorders Study","INCLUSION:\n\n* Males and females of any age.\n* Persons with a brain malformation or disorder of cognition (familial intellectual disability \\[previously known as mental retardation\\] or autism).\n\nEXCLUSION:\n\n* Persons without a brain malformation or disorder of cognition (familial intellectual disability (previously known as mental retardation\\] or autism).",{"count":84,"type":23},3500,"The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.",[28,87,88,89],"Neuronal Migration Disorder","Cognition Disorder","Epilepsy",[91,92,93,94,95,96,97,98,99,100,101],"epilepsy","seizures","disorders of human cognition","neuronal migration","neuronal migration disorders","lissencephaly","schizencephaly","polymicrogyria","heterotopia","microcephaly","pachygyria","2023-09-20",{"date":104,"type":36},"2023-09-21",{"date":106,"type":4},"1996-04",{"date":108,"type":23},"2030-06",{"name":110,"class":43},"Harvard University Faculty of Medicine"]