[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100621608":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":19,"centralContacts":23,"locations":30,"responsibleParty":47,"collaborators":10,"id":50,"slug":51,"hasResults":52,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":10,"eligibilityCriteria":56,"healthyVolunteers":52,"sex":57,"minAge":10,"maxAge":10,"enrollmentInfo":58,"targetDuration":10,"studyType":61,"phases":10,"briefSummary":62,"conditions":63,"keywords":66,"overallStatus":33,"whyStopped":10,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":77},{"fullName":5,"class":6},"Erasmus Medical Center","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"CAMK2 mutation",null,"Patients with a mutation in the CAMK2A, CAMK2B, CAMK2D and CAMK2G gene.",[13],"Other: No intervention",[15],{"type":6,"name":16,"description":17,"armGroupLabels":18,"otherNames":10},"No intervention","This is an observational study without interventions.",[9],[20],{"name":21,"affiliation":5,"role":22},"Danielle CM Veenma, MD PhD","PRINCIPAL_INVESTIGATOR",[24,28],{"name":21,"role":25,"phone":26,"phoneExt":10,"email":27},"CONTACT","010-7037815","camk2disorders@erasmusmc.nl",{"name":29,"role":25,"phone":10,"phoneExt":10,"email":27},"Anjuli L Dijkmans, MD",[31],{"facility":32,"status":33,"city":34,"state":35,"zip":36,"country":37,"countryCode":38,"cosmosGeoPoint":39,"geoPoint":44,"contacts":45},"Erasmus MC","RECRUITING","Rotterdam","South Holland","3015 GD","Netherlands","NL",{"type":40,"coordinates":41},"Point",[42,43],4.47917,51.9225,{"lat":43,"lon":42},[46],{"name":21,"role":25,"phone":26,"phoneExt":10,"email":27},{"type":22,"investigatorFullName":48,"investigatorTitle":49,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Danielle C.M. Veenma","Assistant professor, MD PhD","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":59,"type":60},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.",[64,65],"CAMK2","Calcium\u002FCalmodulin-dependent Protein Kinase 2",[64,67],"Calcium\u002Fcalmodulin-dependent protein kinase 2","2026-01-23",{"date":70,"type":71},"2026-01-28","ACTUAL",{"date":73,"type":71},"2021-02-09",{"date":75,"type":60},"2040-01-01",{"name":5,"class":6},1]