[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100558810":3},{"organization":4,"armGroups":7,"interventions":16,"overallOfficials":21,"centralContacts":25,"locations":34,"responsibleParty":117,"collaborators":119,"id":123,"slug":124,"hasResults":125,"nctId":126,"briefTitle":127,"officialTitle":128,"acronym":10,"eligibilityCriteria":129,"healthyVolunteers":125,"sex":130,"minAge":10,"maxAge":10,"enrollmentInfo":131,"targetDuration":10,"studyType":134,"phases":10,"briefSummary":135,"conditions":136,"keywords":140,"overallStatus":37,"whyStopped":10,"lastUpdateSubmitDate":145,"lastUpdatePostDateStruct":146,"startDateStruct":149,"completionDateStruct":151,"leadSponsor":153,"locationsCount":154},{"fullName":5,"class":6},"Children's Hospital of Philadelphia","OTHER",[8,13],{"label":9,"type":10,"description":10,"interventionNames":11},"STXBP1 cohort",null,[12],"Other: Non-interventional study",{"label":14,"type":10,"description":10,"interventionNames":15},"SYNGAP1 cohort",[12],[17],{"type":6,"name":18,"description":19,"armGroupLabels":20,"otherNames":10},"Non-interventional study","There is no planned intervention in this study",[9,14],[22],{"name":23,"affiliation":5,"role":24},"Ingo Helbig, MD","PRINCIPAL_INVESTIGATOR",[26,31],{"name":27,"role":28,"phone":29,"phoneExt":10,"email":30},"Joeylynn Nolan, RRT NPS AE-C","CONTACT","2674411813","COYNEJ@chop.edu",{"name":32,"role":28,"phone":10,"phoneExt":10,"email":33},"Victoria Chisari, BA, NS","ChisariV@chop.edu",[35,55,71,86,101],{"facility":36,"status":37,"city":38,"state":39,"zip":40,"country":41,"countryCode":42,"cosmosGeoPoint":43,"geoPoint":48,"contacts":49},"Stanford Medicine Children's Health","RECRUITING","Palo Alto","California","94304","United States","US",{"type":44,"coordinates":45},"Point",[46,47],-122.14302,37.44188,{"lat":47,"lon":46},[50,53],{"name":51,"role":28,"phone":10,"phoneExt":10,"email":52},"Swetapadma Patnaik","sweta@stanford.edu",{"name":54,"role":24,"phone":10,"phoneExt":10,"email":10},"Juliet Knowles, MD",{"facility":56,"status":37,"city":57,"state":58,"zip":59,"country":41,"countryCode":42,"cosmosGeoPoint":60,"geoPoint":64,"contacts":65},"Children's Hospital Colorado","Aurora","Colorado","80011",{"type":44,"coordinates":61},[62,63],-104.83192,39.72943,{"lat":63,"lon":62},[66,69],{"name":67,"role":28,"phone":10,"phoneExt":10,"email":68},"Megan Stringfellow","Megan.Stringfellow@childrenscolorado.org",{"name":70,"role":24,"phone":10,"phoneExt":10,"email":10},"Andrea Miele, PhD",{"facility":72,"status":37,"city":73,"state":73,"zip":74,"country":41,"countryCode":42,"cosmosGeoPoint":75,"geoPoint":79,"contacts":80},"Weill Cornell Medicine","New York","10065",{"type":44,"coordinates":76},[77,78],-74.00597,40.71427,{"lat":78,"lon":77},[81,84],{"name":82,"role":28,"phone":10,"phoneExt":10,"email":83},"Millie Stone","aks4017@med.cornell.edu",{"name":85,"role":24,"phone":10,"phoneExt":10,"email":10},"Zachary Grinspan, MD",{"facility":87,"status":37,"city":88,"state":89,"zip":90,"country":41,"countryCode":42,"cosmosGeoPoint":91,"geoPoint":95,"contacts":96},"The Children's Hospital of Philadelphia","Philadelphia","Pennsylvania","19403",{"type":44,"coordinates":92},[93,94],-75.16362,39.95238,{"lat":94,"lon":93},[97,100],{"name":98,"role":28,"phone":10,"phoneExt":10,"email":99},"Joeylynn Nolan","coynej@chop.edu",{"name":23,"role":24,"phone":10,"phoneExt":10,"email":10},{"facility":102,"status":37,"city":103,"state":104,"zip":105,"country":41,"countryCode":42,"cosmosGeoPoint":106,"geoPoint":110,"contacts":111},"Texas Children's Hospital","Houston","Texas","77030",{"type":44,"coordinates":107},[108,109],-95.36327,29.76328,{"lat":109,"lon":108},[112,115],{"name":113,"role":28,"phone":10,"phoneExt":10,"email":114},"Ekaterina Sanchez Romero","chao-lab@bcm.edu",{"name":116,"role":24,"phone":10,"phoneExt":10,"email":10},"Hsiao-Tuan Chao, MD, PhD",{"type":118,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[120],{"name":121,"class":122},"STXBP1 Foundation","UNKNOWN","100558810","stxbp1-and-syngap1-related-disorders-natural-history-study-100558810",false,"NCT06555965","STXBP1 and SYNGAP1 Related Disorders Natural History Study","STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study","Inclusion Criteria:\n\n* Male or female of any age.\n* Presence of a STXBP1 or SYNGAP1 gene mutation. The variant in STXBP1 or SYNGAP1 must be classified as causative based on clinical and variant classification criteria. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained, if necessary, at baseline and performed by a CLIA certified laboratory.\n\nExclusion Criteria:\n\n* The presence of a confirmed mutation in a gene other than STXBP1 or SYNGAP1 that is known to contribute to a neurodevelopmental disability. This includes full gene deletions of STXBP1 or SYNGAP1 that include other genes beyond STXBP1 or SYNGAP1.\n* The presence of a significant non-STXBP1-RD or non-SYNGAP1-RD related central nervous impairment\u002Fbehavioral disturbance that would confound the scientific rigor or interpretation of results of the study.\n* History of intraventricular hemorrhage, structural brain deficit or congenital heart disease\n* The presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD.\n* Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.","ALL",{"count":132,"type":133},600,"ESTIMATED","OBSERVATIONAL","The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clinical care.",[137,138,139],"Genetic Disease","STXBP1 Encephalopathy With Epilepsy","SYNGAP1-Related Intellectual Disability",[141,142,143,144],"STXBP1","Natural History","Clinical Research","SYNGAP1","2025-10-28",{"date":147,"type":148},"2025-10-29","ACTUAL",{"date":150,"type":148},"2023-08-30",{"date":152,"type":133},"2028-12-30",{"name":5,"class":6},5]