[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100520215":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":22,"centralContacts":23,"locations":34,"responsibleParty":50,"collaborators":52,"id":58,"slug":59,"hasResults":60,"nctId":61,"briefTitle":62,"officialTitle":63,"acronym":64,"eligibilityCriteria":65,"healthyVolunteers":60,"sex":66,"minAge":22,"maxAge":22,"enrollmentInfo":67,"targetDuration":22,"studyType":70,"phases":71,"briefSummary":73,"conditions":74,"keywords":22,"overallStatus":37,"whyStopped":22,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":86},{"fullName":5,"class":6},"King's College Hospital NHS Trust","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Patients with histologically confirmed FCDIIA\u002FB undergoing or post Epilepsy Surgery","EXPERIMENTAL","Genetic screening of DNA samples (blood, mucosal swab, brain tissue)",[13],"Genetic: Blood and nasal swab sampling",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":20},"GENETIC","Blood and nasal swab sampling","Genetic screening of DNA samples (blood, mucosal swab, brain tissue) from 60-100 patients with histologically confirmed diagnosis of FCDIIA\u002FB identified from Epilepsy Surgery Databases.",[9],[21],"Analysis of Epilepsy Surgical tissue",null,[24,30],{"name":25,"role":26,"phone":27,"phoneExt":28,"email":29},"Laura Mantoan Ritter, MD PhD","CONTACT","00442032999000","8339","laura.mantoan@kcl.ac.uk",{"name":31,"role":26,"phone":32,"phoneExt":22,"email":33},"Sylvini Lalnunhlimi","+44 (0) 20 7848 5162","sylvine.1.lalnunhlimi@kcl.ac.uk",[35],{"facility":36,"status":37,"city":38,"state":22,"zip":22,"country":39,"countryCode":40,"cosmosGeoPoint":41,"geoPoint":46,"contacts":47},"King's College Hospital","RECRUITING","London","United Kingdom","UK",{"type":42,"coordinates":43},"Point",[44,45],-0.12574,51.50853,{"lat":45,"lon":44},[48],{"name":49,"role":26,"phone":22,"phoneExt":22,"email":29},"Laura Mantoan, MD PhD",{"type":51,"investigatorFullName":22,"investigatorTitle":22,"investigatorAffiliation":22,"oldNameTitle":22,"oldOrganization":22},"SPONSOR",[53,55],{"name":54,"class":6},"King's College London",{"name":56,"class":57},"Danish Epilepsy Centre","UNKNOWN","100520215","mos-fed-mosaicism-in-focal-epilepsy-cortical-dysplasia-tissue-100520215",false,"NCT06053671","Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)","Dissecting mTOR Pathway Mosaicism in FCDII-Harbouring Epileptic Brain and Peripheral Tissue.","MosFED","Epilepsy in Focal Cortical Dysplasia Type IIA\u002FB\n\nKey Inclusion Criteria:\n\n1. Adult and Paediatric Patients (male and female)\n2. A histologically proven diagnosis of FCDIIA\u002FB or a suspected diagnosis of FCDIIA\u002FB (on MRI\u002FEEG and PET grounds) awaiting resective Epilepsy surgery.\n3. Able to attend appointment\u002Fhospital and undergo sampling of serum and nasal swab\n4. Informed Consent Available\n\n   Key Exclusion Criteria:\n5. Any acute or chronic conditions that could limit the ability of the patient to participate in the study.\n6. Refusal to give informed consent.","ALL",{"count":68,"type":69},60,"ESTIMATED","INTERVENTIONAL",[72],"NA","Focal cortical dysplasia (FCD) is a malformation of brain development, the most common cause of drug-resistant epilepsy and often caused by mutations in mammalian target of rapamycin (mTOR) pathway genes. Patients with FCD develop drug-resistant seizures. This study will look at FCD tissue removed during epilepsy surgery and aims to detect mutations in mTOR pathway genes in brain cells. Secondly, the investigators will establish if evidence of mutations found in brain cells can also be detected as circulating free DNA (cfDNA) in blood. By looking at which genes are made into proteins in individual cells found in epilepsy surgical tissue (single cell expression profiling),the investigators will attempt to identify new genetic targets in FCD.\n\nThe main outcome will be finding new causes of epilepsy with FCD and the development of new diagnostic and screening tools.",[75,76],"Focal Cortical Dysplasia","Epilepsy","2024-10-21",{"date":79,"type":80},"2024-10-23","ACTUAL",{"date":82,"type":80},"2023-04-09",{"date":84,"type":69},"2026-04-08",{"name":5,"class":6},1]