[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100561729":3},{"organization":4,"armGroups":7,"interventions":7,"overallOfficials":7,"centralContacts":8,"locations":17,"responsibleParty":35,"collaborators":39,"id":42,"slug":7,"hasResults":43,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":43,"sex":48,"minAge":7,"maxAge":7,"enrollmentInfo":49,"targetDuration":52,"studyType":53,"phases":7,"briefSummary":54,"conditions":55,"keywords":63,"overallStatus":20,"whyStopped":7,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":74,"completionDateStruct":76,"leadSponsor":78,"locationsCount":79},{"fullName":5,"class":6},"Boston Children's Hospital","OTHER",null,[9,14],{"name":10,"role":11,"phone":12,"phoneExt":7,"email":13},"Darius Ebrahimi-Fakhari, MD, PhD.","CONTACT","617-355-0097","movementdisorders@childrens.harvard.edu",{"name":15,"role":11,"phone":16,"phoneExt":7,"email":13},"Joshua Rong, BS.","617-355-0903",[18],{"facility":19,"status":20,"city":21,"state":22,"zip":23,"country":24,"cosmosGeoPoint":25,"geoPoint":30,"contacts":31},"Boston Childrens Hospital","RECRUITING","Boston","Massachusetts","02115","United States",{"type":26,"coordinates":27},"Point",[28,29],-71.05977,42.35843,{"lat":29,"lon":28},[32,33],{"name":10,"role":11,"phone":12,"phoneExt":7,"email":13},{"name":34,"role":11,"phone":7,"phoneExt":7,"email":13},"Joshua Rong, BS",{"type":36,"investigatorFullName":37,"investigatorTitle":38,"investigatorAffiliation":5,"oldNameTitle":7,"oldOrganization":7},"PRINCIPAL_INVESTIGATOR","Darius Ebrahimi-Fakhari","Darius Ebrahimi-Fakhari, MD, PhD",[40],{"name":41,"class":6},"Epilepsy Foundation","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":50,"type":51},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.",[56,46,57,58,59,60,61,62],"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",[64,65,66,67,68,69,46],"Myoclonus","Progressive Myoclonus","CSTB","Non-epileptic action-induced myoclonus","Non-epileptic stimulus-induced myoclonus","Cerebellar disfunction","2026-03-16",{"date":72,"type":73},"2026-03-18","ACTUAL",{"date":75,"type":73},"2024-10-10",{"date":77,"type":51},"2030-10-01",{"name":5,"class":6},1]