[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"calciumcalmodulin-dependent-protein-kinase-2\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:calciumcalmodulin-dependent-protein-kinase-2":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":25,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":5},"100621608","camk2-related-synapthopathies-natural-history-study-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":18,"type":19},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.",[23,24],"CAMK2","Calcium\u002FCalmodulin-dependent Protein Kinase 2",[23,26],"Calcium\u002Fcalmodulin-dependent protein kinase 2","RECRUITING","2026-01-23",{"date":30,"type":31},"2026-01-28","ACTUAL",{"date":33,"type":31},"2021-02-09",{"date":35,"type":19},"2040-01-01",{"name":37,"class":38},"Erasmus Medical Center","OTHER"]