[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100569964":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":20,"centralContacts":24,"locations":30,"responsibleParty":47,"collaborators":19,"id":50,"slug":51,"hasResults":52,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":19,"eligibilityCriteria":56,"healthyVolunteers":52,"sex":57,"minAge":19,"maxAge":19,"enrollmentInfo":58,"targetDuration":19,"studyType":61,"phases":62,"briefSummary":64,"conditions":65,"keywords":19,"overallStatus":32,"whyStopped":19,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":77},{"fullName":5,"class":6},"Boston Children's Hospital","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Genomic Sequencing","EXPERIMENTAL","All enrolled infants receive the intervention (genomic sequencing, including rapid genome sequencing). Comprehensive genomic analyses will be performed to identify genetic diagnoses. Genetic results will be returned to families and infants will be followed until 2.5 years old to evaluate the impact of genetic diagnosis using quantitative validated outcome measures and qualitative parent interviews.",[13],"Genetic: Genomic Sequencing",[15],{"type":16,"name":9,"description":17,"armGroupLabels":18,"otherNames":19},"GENETIC","Genomic sequencing data will be comprehensively analyzed for pathogenic variants that explain the participants epilepsy.",[9],null,[21],{"name":22,"affiliation":5,"role":23},"Alissa M D'Gama, MD, PhD","PRINCIPAL_INVESTIGATOR",[25],{"name":26,"role":27,"phone":28,"phoneExt":19,"email":29},"Beth R Sheidley, MS","CONTACT","8572185533","beth.sheidley@childrens.harvard.edu",[31],{"facility":5,"status":32,"city":33,"state":34,"zip":35,"country":36,"countryCode":37,"cosmosGeoPoint":38,"geoPoint":43,"contacts":44},"RECRUITING","Boston","Massachusetts","02115","United States","US",{"type":39,"coordinates":40},"Point",[41,42],-71.05977,42.35843,{"lat":42,"lon":41},[45,46],{"name":26,"role":27,"phone":28,"phoneExt":19,"email":29},{"name":22,"role":23,"phone":19,"phoneExt":19,"email":19},{"type":23,"investigatorFullName":48,"investigatorTitle":49,"investigatorAffiliation":5,"oldNameTitle":19,"oldOrganization":19},"Alissa D'Gama","Assistant Professor of Pediatrics","100569964","molecular-genetic-mechanisms-of-infantile-epilepsies-and-the-impact-of-genetic-diagnosis-100569964",false,"NCT06701084","Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis","Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)","Infant Criteria\n\nInclusion Criteria:\n\n* Seizure onset at less than 12 months of age\n* Enrollment within 6 weeks of seizure-related presentation\n* Patient at Boston Children's Hospital\n\nExclusion Criteria:\n\n* Simple febrile seizures\n* Acute provoked seizures (e.g., due to sepsis, hemorrhage, electrolyte abnormality, cerebral infarction, hypoxic ischemic encephalopathy, non-accidental injury)\n* Genetic or acquired cause of epilepsy already identified, including brain magnetic resonance imaging findings consistent with a specific genetic etiology (e.g., tuberous sclerosis complex)\n* Deceased prior to enrollment\n\nParent Criteria Inclusion Criteria - Parent of eligible infant (see above)\n\nExclusion Criteria\n\n\\- Not the legal guardian of the eligible infant","ALL",{"count":59,"type":60},600,"ESTIMATED","INTERVENTIONAL",[63],"NA","The goal of this study is to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families.",[66,67],"Neonatal Epilepsy","Infantile Epilepsy","2026-04-22",{"date":70,"type":71},"2026-04-27","ACTUAL",{"date":73,"type":71},"2021-09-02",{"date":75,"type":60},"2029-11",{"name":5,"class":6},1]