[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"stxbp1-encephalopathy-with-epilepsy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:stxbp1-encephalopathy-with-epilepsy":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,47,75,311],{"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":25,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":46},"100564126","a-multicentric-european-study-to-promote-clinical-trial-readiness-for-stxbp1-related-disorders-100564126",false,"NCT06625112","A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders","ESCO","Inclusion Criteria:\n\n* participant has a (likely) pathogenic, disease-causing STXBP1 variant, according to the American College of Medical Genetics and Genomics (ACMG) criteria; or participant has a larger structural variant including the STXBP1 gene where STXBP1 is thought to be (one of) the culprit gene(s) causing the phenotype •written informed consent from study participant and\u002For legal guardian.\n\nExclusion Criteria:\n\n* Exclusion criteria for the study are: none if the inclusion criteria are met.","ALL",{"count":18,"type":19},120,"ESTIMATED","5 Years","OBSERVATIONAL","STXBP1-related disorders (STXBP1-RD) are rare genetic neurodevelopmental disorders, caused by pathogenic variants in the gene STXBP1. The core clinical features of the disorder are developmental delay often leading to (severe) intellectual disability and seizures in most patients, although the phenotypic spectrum is variable. Behavioral problems and movement disorders are frequent comorbidities. STXBP1-RD are severe disorders with significant impact on the quality of life of the patients and their caregivers. At the moment, there is no cure for STXBP1-RD and treatment is largely limited to symptom control. Recent advances in the field of precision medicine and gene therapy have led to the identification of potential novel disease modifying therapies for STXBP1-RD that hold promise to reach clinical trials in the coming years. However, accurate and successful evaluation of such novel precision therapies in STXBP1-RD patients is challenging, given the rarity of the condition and the variable clinical spectrum. Furthermore, relevant clinical endpoints, taking into account the patients' and caregivers' perspective have not been identified to date.\n\nIn this European collaborative study, the investigators will prospectively follow patients with STXBP1-RD during different phases of life (infantile period, childhood and adolescence\u002Fadulthood). The study aims to better understand the natural history and the phenotypic spectrum of the disease including the identification of disease modifiers. It further aims to identify relevant clinical endpoints (what to treat?) and robust outcome measures and biomarkers (how to measure?) for future clinical trials. The study is performed in close collaboration with different STXBP1 patient-caregiver communities across Europe.",[24],"STXBP1 Encephalopathy With Epilepsy",[26,27,28,14,29,30,31,32,33,34],"European","STXBP1","European STXBP1 Consortium","STXBP1-RD","Syntaxin Binding Protein","epileptic encephalopathy","epilepsy","natural history study","registry","RECRUITING","2026-02-04",{"date":38,"type":39},"2026-02-06","ACTUAL",{"date":41,"type":39},"2025-11-04",{"date":43,"type":19},"2034-10-31",{"name":28,"class":45},"NETWORK",1,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":54,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":56,"conditions":57,"keywords":60,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":74},"100558810","stxbp1-and-syngap1-related-disorders-natural-history-study-100558810","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.",{"count":55,"type":19},600,"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.",[58,24,59],"Genetic Disease","SYNGAP1-Related Intellectual Disability",[27,61,62,63],"Natural History","Clinical Research","SYNGAP1","2025-10-28",{"date":66,"type":39},"2025-10-29",{"date":68,"type":39},"2023-08-30",{"date":70,"type":19},"2028-12-30",{"name":72,"class":73},"Children's Hospital of Philadelphia","OTHER",5,{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":79,"acronym":4,"eligibilityCriteria":80,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":81,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":83,"conditions":84,"keywords":267,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":301,"lastUpdatePostDateStruct":302,"startDateStruct":304,"completionDateStruct":306,"leadSponsor":308,"locationsCount":310},"100151071","online-study-of-people-who-have-genetic-changes-and-features-of-autism-simons-searchlight-100151071","NCT01238250","Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight","Inclusion Criteria:\n\n* Subjects of any age with a genetic condition on our eligible list along with their biological family members. Current list can be found at: https:\u002F\u002Fwww.simonssearchlight.org\u002Fresearch\u002Fwhat-we-study\u002F\n* Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come.\n* Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.\n* Able and willing to provide consent.\n\nExclusion Criteria:\n\n-Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently.",{"count":82,"type":19},100000,"Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.",[85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,24,59,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233,234,235,236,237,238,239,240,241,242,243,244,245,246,247,248,249,250,251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266],"16P11.2 Deletion Syndrome","16p11.2 Duplications","1Q21.1 Deletion","1Q21.1 Microduplication Syndrome (Disorder)","ACTL6B","ADNP","AHDC1","ANK2","ANKRD11","ARID1B","ASH1L","BCL11A","CHAMP1","CHD2","CHD8","CSNK2A1","CTBP1","CTNNB1 Gene Mutation","CUL3","DDX3X","DNMT3A","DSCAM","DYRK1A","FOXP1","GRIN2A","GRIN2B","HIVEP2-Related Intellectual Disability","HNRNPH2","KATNAL2","KDM5B","KDM6B","KMT2C Gene Mutation","KMT2E","KMT5B","MBD5","MED13L","PACS1","PPP2R5D-Related Intellectual Disability","PTCHD1","REST","SCN2A Encephalopathy","SETBP1 Gene Mutation","SETD5","SMARCA4 Gene Mutation","SMARCC2","TBR1","ARHGEF9","HNRNPU","PPP3CA","PPP2R1A","SLC6A1","2p16.3 Deletions","5q35 Deletions","5q35 Duplications","7q11.23 Duplications","15Q13.3 Deletion Syndrome","16p11.2 Triplications","16P12.2 Microdeletion","16P13.11 Microdeletion Syndrome (Disorder)","17Q12 Microdeletion Syndrome (Disorder)","17Q12 Duplication Syndrome","17Q21.31 Deletion Syndrome","17q21.3 Duplications","ACTB","ADSL","AFF2","ALDH5A1","ANK3","ARX","ATRX Gene Mutation","AUTS2 Syndrome","BCKDK","BRSK2","CACNA1C","CAPRIN1","CASK","CASZ1","CHD3","CIC","CNOT3","CREBBP Gene Mutation","CSDE1","CTCF","DEAF1","DHCR7","DLG4","EBF3","EHMT1","EP300 Gene Mutation","GIGYF1","GRIN1","GRIN2D","IQSEC2-Related Syndromic Intellectual Disability","IRF2BPL","KANSL1","KCNB1","KDM3B","NEXMIF","KMT2A","MBOAT7","MEIS2","MYT1L","NAA15","NBEA","NCKAP1","NIPBL","NLGN2","NLGN3","NLGN4X","NR4A2","NRXN1","NRXN2","NSD1 Gene Mutation","PHF21A","PHF3","PHIP","POMGNT1","PSMD12","RELN","RERE","RFX3","RIMS1","RORB","SCN1A","SETD2 Gene Mutation","SHANK2","SIN3A","SLC9A6","SON","SOX5","SPAST","SRCAP","TAOK1","TANC2","TCF20","TLK2","TRIO","TRIP12","UPF3B","USP9X","VPS13B","WAC","WDFY3","ZBTB20","ZNF292","ZNF462","2Q37 Deletion Syndrome","9q34 Duplications","15q15 Deletions","15Q24 Deletion","NR3C2","SYNCRIP","2q34 Duplication","2q37.3 Deletion","6q16 Deletion","15q11.2 BP1-BP2 Deletion","16p13.3 Deletion","17Q11.2 Microduplication Syndrome (Disorder)","17p13.3","Xq28 Duplication","CLCN4","CSNK2B","DYNC1H1","EIF3F","GNB1","MED13","MEF2C","RALGAPB","SCN1B","YY1","Xp11.22 Duplication","PACS2","MAOA","MAOB","HNRNPC","HNRNPD","HNRNPK","HNRNPR","HNRNPUL2","5P Deletion Syndrome","TCF7L2 Gene Mutation","HECW2",[268,269,270,271,272,273,274,275,276,277,278,279,280,281,282,283,284,285,286,287,288,90,93,94,289,89,91,290,92,95,96,98,99,291,103,107,108,110,115,117,119,120,124,292,129,63,293,112,294,97,100,101,104,105,106,109,113,114,295,118,296,121,123,297,127,298,27,130,131,132,299,134,135,256,257,258,259,260,261,262,263,264,300,266],"16p11.2","16p11.2 del","16p11.2 deletion","16p11.2 dup","16p11.2 duplication","chromosome 16","chromosome 16p","chromosome 16p11","chromosome 16p11.2","1q21.1","1q21.1 del","1q21.1 deletion","1q21.1 dup","1q21.1 duplication","chromosome 1","chromosome 1q","chromosome 1q21","chromosome 1q21.1","genetic mutation","genetic variant","gene variant","ASXL3","BAF190","CTNNB1","SCN2A","HIVEP2","PPP2R5D","KMT2C","SUV420H1","SETBP1","SMARCA4","PPP2B","TCF7L2","2025-06-03",{"date":303,"type":39},"2025-06-06",{"date":305,"type":4},"2010-10",{"date":307,"type":19},"2050-10",{"name":309,"class":73},"Simons Searchlight",2,{"id":312,"slug":313,"hasResults":11,"nctId":314,"briefTitle":315,"officialTitle":315,"acronym":316,"eligibilityCriteria":317,"healthyVolunteers":318,"sex":16,"minAge":319,"maxAge":320,"enrollmentInfo":321,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":323,"conditions":324,"keywords":325,"overallStatus":326,"whyStopped":4,"lastUpdateSubmitDate":327,"lastUpdatePostDateStruct":328,"startDateStruct":330,"completionDateStruct":332,"leadSponsor":334,"locationsCount":46},"100543466","phenotyping-and-identification-of-biological-markers-in-stxbp1-encephalopathy-100543466","NCT06356233","Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy","FIMBEX","Inclusion Criteria:\n\n* Patients under 10 years of age with confirmed mutation for STXBP1. In cases where the diagnostic technique for the mutation is not optimal, a trio exome will be performed to confirm the mutation.\n\nExclusion Criteria:\n\n* Presence of functional disability that prevents the neuropsychological study from being carried out and absence of a reliable informant for the patient.",true,"1 Month","10 Years",{"count":322,"type":19},10,"This is a prospective observational study to evaluate the phenotype of 10 patients under 10 years of age with developmental epileptic encephalopathy due to mutation of the STXBP1 gene. The study will consist of a clinical and neurodevelopmental evaluation, magnetic resonance imaging, prolonged electroencephalogram, cardiological study, and analysis of biomarkers in cerebrospinal fluid. These patients will be followed up for 3 years. The aim of the study is, knowing the baseline phenotype, to analyse the response to commonly used drugs and to anticipate the response to different drugs available on the market in this group of patients based on clinical and biomarker assessment (EEG, MRI and study of specific proteins and neurotransmitters in plasma, urine and CSF).",[24],[27],"NOT_YET_RECRUITING","2024-04-04",{"date":329,"type":39},"2024-04-10",{"date":331,"type":19},"2024-05-01",{"date":333,"type":19},"2027-12-31",{"name":335,"class":73},"Fundación Iniciativa para las Neurociencias (FINCE)"]