[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Institute of Child Health\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":94},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,38,62],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":27,"lastUpdatePostDateStruct":28,"startDateStruct":31,"completionDateStruct":33,"leadSponsor":35,"locationsCount":4},"100562392","the-mosaic-brain-a-new-diagnostic-approach-in-focal-epilepsies-100562392",false,"NCT06602570","The Mosaic Brain: a New Diagnostic Approach in Focal Epilepsies","Inclusion Criteria:\n\n* Children in the epilepsy surgery pathway at Great Ormond Street Hospital (GOSH) with a clear or suspected MRI lesion.\n* All children undergoing SEEG at GOSH. Children for which consent was obtained from themselves or, if appropriate, from their legal representatives.\n* Children in whom there are no clinical contraindication to having a lumbar puncture procedure pre-surgery.\n* Both sexes.\n* Under the age of 18.\n\nExclusion Criteria:\n\n* Children that although undergoing epilepsy treatment or testing for an ischaemic lesion.\n* Children with malignant brain tumours.\n* Children in whom there are contraindications to performing a lumbar puncture procedure.","ALL","6 Months","18 Years",{"count":19,"type":20},40,"ESTIMATED","OBSERVATIONAL","Overall, this observational cohort study aims to:\n\n1. Improve our understanding of the genetic architecture of childhood focal epilepsies.\n2. Develop a liquid biopsy of cerebrospinal fluid (CSF) and assess feasibility to detect cerebral mosaicism using cell-free DNA (cfDNA) analysis and evaluate its performance against brain tissue on the panel testing.\n3. Develop a methodology to use trace tissue from Stereoelectroencephalography (SEEG) DNA and assess feasibility to detect cerebral mosaicism and evaluate its performance against brain tissue on the panel testing.\n\n3\\. Validate the use of the liquid biopsy and SEEG trace tissue for use in the English National Health Service clinical services and share with other Genomic Laboratory Hubs.",[24,25],"Epilepsy Intractable","Epilepsy in Children","NOT_YET_RECRUITING","2024-09-17",{"date":29,"type":30},"2024-09-19","ACTUAL",{"date":32,"type":20},"2024-10-01",{"date":34,"type":20},"2026-09-01",{"name":36,"class":37},"Institute of Child Health","OTHER",{"id":39,"slug":40,"hasResults":11,"nctId":41,"briefTitle":42,"officialTitle":43,"acronym":44,"eligibilityCriteria":45,"healthyVolunteers":11,"sex":15,"minAge":46,"maxAge":17,"enrollmentInfo":47,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":49,"conditions":50,"keywords":4,"overallStatus":52,"whyStopped":4,"lastUpdateSubmitDate":53,"lastUpdatePostDateStruct":54,"startDateStruct":56,"completionDateStruct":58,"leadSponsor":60,"locationsCount":61},"100512592","exploring-bulbar-function-speech-and-communication-development-in-sma-type-1-100512592","NCT05954455","Exploring Bulbar Function, Speech And Communication Development in SMA Type 1","Exploring Bulbar Function, Speech And Communication Development in SMA Type 1 (ExSpAnD SMA)","ExSpAnD SMA","Inclusion Criteria:\n\n* genetic documentation of 5q SMA;\n* onset of clinical signs and symptoms at ≤ 6 months (180 days) of age;\n* 0 - 18 years of age\n* treatment with any of the approved disease-modifying therapies;\n* parent(s)\u002Flegal guardian(s) willing and able to complete the informed consent process and comply with study procedures and visit schedule.\n\nExclusion criteria:\n\n* any clinically significant medical finding that - in the judgment of the Investigator - will make the patient unsuitable for participation in, and\u002For unable to complete the study procedures;\n* parent(s)\u002Flegal guardian(s) unable or unwilling to comply with study procedures and\u002For refuses to sign consent form.\n\nExclusion Criteria:\n\n* any clinically significant medical finding that - in the judgment of the Investigator - will make the patient unsuitable for participation in, and\u002For unable to complete the study procedures;\n* parent(s)\u002Flegal guardian(s) unable or unwilling to comply with study procedures and\u002For refuses to sign consent form.","0 Years",{"count":48,"type":20},30,"5q-spinal muscular atrophy (5q-SMA) is a rare, autosomal recessive neuromuscular disease characterized by degeneration of motor neurons in the spinal cord and lower brainstem with progressive muscle atrophy, weakness, and paralysis. The incidence is 1 in 7-10,000 live births. 5q-SMA presents a wide range of phenotypes that are classified into five clinical groups depending on age of onset and maximum motor milestone achieved. SMA type 1 presents shortly after birth and before six months of age with inability to achieve independent sitting and limited life expectancy due to respiratory complications (high mortality rate by 2 years of age). In addition to the severe gross-motor and respiratory impairment, bulbar weakness and dysfunction represent an obstacle to the development of verbal skills in these patients. To date, very little is known about these functions in children with SMA 1. With the increasing number of long-term SMA 1 survivors worldwide thanks to the availability of new pharmacological treatments, it has become obvious that treated children show new phenotypes, presenting changes not only in motor and respiratory function, but also in other domains, including bulbar function, speech and communication development. We aim to investigate the evolution of bulbar function and speech\u002Fcommunication development in children with SMA type 1 treated with approved disease-modifying therapies through validate scales and questionnaires for the paediatric population. Additional neurophysiological and neuroimaging studies will be offered on an optional basis to further investigate the underlying brain electrical activity, and brain structural and functional organization. The information gathered would promote the definition of additional outcome measures capturing improvement at these levels. A better understanding of the development of these areas would help to plan SMA 1- tailored supportive programs provided by speech and language therapists, thus enhancing the current recommendations for management in SMA.",[51],"SMA1","RECRUITING","2024-08-15",{"date":55,"type":30},"2024-08-16",{"date":57,"type":30},"2024-03-21",{"date":59,"type":20},"2026-12",{"name":36,"class":37},1,{"id":63,"slug":64,"hasResults":11,"nctId":65,"briefTitle":66,"officialTitle":67,"acronym":68,"eligibilityCriteria":69,"healthyVolunteers":11,"sex":15,"minAge":70,"maxAge":71,"enrollmentInfo":72,"targetDuration":4,"studyType":74,"phases":75,"briefSummary":77,"conditions":78,"keywords":81,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":86,"lastUpdatePostDateStruct":87,"startDateStruct":89,"completionDateStruct":91,"leadSponsor":93,"locationsCount":61},"100514919","imaging-based-uveitis-screening-for-children-with-juvenile-idiopathic-arthritis-100514919","NCT05984758","Imaging Based Uveitis Screening for Children With Juvenile Idiopathic Arthritis","A Randomised Feasibility Study of Imaging Based Uveitis Screening for Children With Juvenile Idiopathic Arthritis","UVESCREEN1","Inclusion Criteria:\n\n* Patients newly diagnosed (within preceding 12 months) with JIA who are eligible for uveitis surveillance\n* Aged 2-12 years\n\nExclusion Criteria:\n\n* A previous \u002F existing diagnosis of uveitis\n* Any co-existing ocular or neurological abnormality which impacts on current corrected visual function, or could impact on future corrected visual function\n* Developmental\u002Flearning difficulties that preclude concordance with examination \u002F informed assent","2 Years","12 Years",{"count":73,"type":20},80,"INTERVENTIONAL",[76],"NA","This study seeks to describe, for children undergoing uveitis surveillance following a new diagnosis of juvenile idiopathic arthritis, the feasibility metrics of undertaking a randomised comparative study of routine slit lamp examination (SLE) versus imaging based (anterior segment optical coherence tomography, OCT) surveillance in order to inform the development of a larger multi-centre trial.",[79,80],"Uveitis, Anterior","Juvenile Idiopathic Arthritis",[82,83,84,85],"Screening","Surveillance","Imaging","Optical coherence tomography","2024-03-11",{"date":88,"type":30},"2024-03-12",{"date":90,"type":20},"2024-05-01",{"date":92,"type":20},"2026-10-01",{"name":36,"class":37},""]