[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100561729":3},{"organization":4,"armGroups":7,"interventions":7,"overallOfficials":7,"centralContacts":8,"locations":17,"responsibleParty":36,"collaborators":40,"id":43,"slug":44,"hasResults":45,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":45,"sex":50,"minAge":7,"maxAge":7,"enrollmentInfo":51,"targetDuration":54,"studyType":55,"phases":7,"briefSummary":56,"conditions":57,"keywords":65,"overallStatus":20,"whyStopped":7,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":81},{"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,"countryCode":25,"cosmosGeoPoint":26,"geoPoint":31,"contacts":32},"Boston Childrens Hospital","RECRUITING","Boston","Massachusetts","02115","United States","US",{"type":27,"coordinates":28},"Point",[29,30],-71.05977,42.35843,{"lat":30,"lon":29},[33,34],{"name":10,"role":11,"phone":12,"phoneExt":7,"email":13},{"name":35,"role":11,"phone":7,"phoneExt":7,"email":13},"Joshua Rong, BS",{"type":37,"investigatorFullName":38,"investigatorTitle":39,"investigatorAffiliation":5,"oldNameTitle":7,"oldOrganization":7},"PRINCIPAL_INVESTIGATOR","Darius Ebrahimi-Fakhari","Darius Ebrahimi-Fakhari, MD, PhD",[41],{"name":42,"class":6},"Epilepsy Foundation","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":52,"type":53},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.",[58,48,59,60,61,62,63,64],"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",[66,67,68,69,70,71,48],"Myoclonus","Progressive Myoclonus","CSTB","Non-epileptic action-induced myoclonus","Non-epileptic stimulus-induced myoclonus","Cerebellar disfunction","2026-03-16",{"date":74,"type":75},"2026-03-18","ACTUAL",{"date":77,"type":75},"2024-10-10",{"date":79,"type":53},"2030-10-01",{"name":5,"class":6},1]