[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"camk2\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:camk2":38},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":10,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":16,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":24,"overallStatus":26,"whyStopped":4,"lastUpdateSubmitDate":27,"lastUpdatePostDateStruct":28,"startDateStruct":31,"completionDateStruct":33,"leadSponsor":35,"locationsCount":5},"100621608",false,"NCT07372833","CAMK2-related Synapthopathies Natural History Study","Natural History Data of International Subjects With an ULTRA-Rare Neuro Developmental Disorder as Part of the ENCORE Expert Clinics, Specifically CAMK2A, CAMK2B, CAMK2D, and CAMK2G.","Inclusion Criteria:\n\n* Subject with a (likely) pathogenic variation in one of the CAMK2 genes\n* Consent for anonymous registration in an (inter)national database\n\nExclusion Criteria:\n\n\\- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.","ALL",{"count":17,"type":18},150,"ESTIMATED","OBSERVATIONAL","The key endpoint for this prospective cohort study is:\n\nMapping of the disease course of all known patients (both children and adults, international) with a CAMK2 mutation, for which ENCORE has founded an expert clinic, and therefore has a substantial and active neuroscientific research arm combined with tertiary academic clinical care delivery for those living in the Netherlands.\n\nSuch robust clinical maps can subsequently be used for genotype-phenotype correlations and, identify clinically relevant outcome measures for prognostication, improvement of care delivery \\& future clinical trials. Additionally, it will most likely generate new research questions for basic scientists who are trying to unravel the specific mechanisms of disease pathophysiology.",[22,23],"CAMK2","Calcium\u002FCalmodulin-dependent Protein Kinase 2",[22,25],"Calcium\u002Fcalmodulin-dependent protein kinase 2","RECRUITING","2026-01-23",{"date":29,"type":30},"2026-01-28","ACTUAL",{"date":32,"type":30},"2021-02-09",{"date":34,"type":18},"2040-01-01",{"name":36,"class":37},"Erasmus Medical Center","OTHER",""]