[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cstb-related-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cstb-related-disease":25},{"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":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":31,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":39,"lastUpdatePostDateStruct":40,"startDateStruct":43,"completionDateStruct":45,"leadSponsor":47,"locationsCount":5},"100561729","registry-and-natural-history-study-for-progressive-myoclonus-epilepsy-type-1-epm1-100561729",false,"NCT06593951","Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)","EPM1","Inclusion Criteria:\n\n* Molecular diagnosis of EPM1-related disease\n* Access to web-based communication, including video-teleconference\n* Permanent address in the United States\n\nExclusion Criteria:\n\n* Not having such a diagnosis of EPM1-related disease.","ALL",{"count":18,"type":19},200,"ESTIMATED","5 Years","OBSERVATIONAL","The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and\u002For urine) from male and female patients, of all ages, who have a molecular diagnosis of EPM1or CSTB-null-related disease. Currently, there are no therapies that halt disease progression in any CSTB-related diseases, highlighting the urgency for translational research into this condition. The primary objective of the registry is to determine the natural history and genotype-phenotype correlations of disease-causing variants in EPM1 and CSTB-null-related disease.",[24,14,25,26,27,28,29,30],"Progressive Myoclonus Epilepsy Type 1","CSTB-related Disease","Myoclonus Epilepsies, Progressive","Unverricht-Lundborg Disease","Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","PME","Progressive Myoclonus-Epilepsies",[32,33,34,35,36,37,14],"Myoclonus","Progressive Myoclonus","CSTB","Non-epileptic action-induced myoclonus","Non-epileptic stimulus-induced myoclonus","Cerebellar disfunction","RECRUITING","2026-03-16",{"date":41,"type":42},"2026-03-18","ACTUAL",{"date":44,"type":42},"2024-10-10",{"date":46,"type":19},"2030-10-01",{"name":48,"class":49},"Boston Children's Hospital","OTHER"]