[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100392859":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":51,"centralContacts":55,"locations":65,"responsibleParty":88,"collaborators":10,"id":90,"slug":91,"hasResults":92,"nctId":93,"briefTitle":94,"officialTitle":95,"acronym":10,"eligibilityCriteria":96,"healthyVolunteers":97,"sex":98,"minAge":10,"maxAge":10,"enrollmentInfo":99,"targetDuration":102,"studyType":103,"phases":10,"briefSummary":104,"conditions":105,"keywords":10,"overallStatus":68,"whyStopped":10,"lastUpdateSubmitDate":110,"lastUpdatePostDateStruct":111,"startDateStruct":114,"completionDateStruct":116,"leadSponsor":118,"locationsCount":119},{"fullName":5,"class":6},"Children's Hospital Medical Center, Cincinnati","OTHER",[8,12,15,18,21,24,27,30,33,36,39,42,45,48],{"label":9,"type":10,"description":11,"interventionNames":10},"Neurofibromatosis 1 (NF1)",null,"Individuals with a confirmed or suspected diagnosis of Neurofibromatosis Type 1 (NF1). Diagnosis may be made clinically and\u002For confirmed through genetic testing. Clinical (non-genetic) diagnosis requires that individuals meet the National Institute of Health's (NIH) clinical diagnostic criteria for NF1.",{"label":13,"type":10,"description":14,"interventionNames":10},"Noonan Syndrome","Individuals with a confirmed or suspected diagnosis of Noonan Syndrome. Diagnosis may be made clinically and\u002For confirmed through genetic testing.",{"label":16,"type":10,"description":17,"interventionNames":10},"Noonan Syndrome with Multiple Lentigines","Individuals with a confirmed or suspected diagnosis of Noonan Syndrome with Multiple Lentigines. Diagnosis may be made clinically and\u002For confirmed through genetic testing.",{"label":19,"type":10,"description":20,"interventionNames":10},"Noonan Neurofibromatosis Syndrome","Individuals with a confirmed or suspected diagnosis of Noonan Neurofibromatosis Syndrome. Diagnosis may be made clinically and\u002For confirmed through genetic testing.",{"label":22,"type":10,"description":23,"interventionNames":10},"Cardiofaciocutaneous Syndrome","Individuals with a confirmed or suspected diagnosis of Cardiofaciocutaneous Syndrome. Diagnosis may be made clinically and\u002For confirmed through genetic testing.",{"label":25,"type":10,"description":26,"interventionNames":10},"Costello Syndrome","Individuals with a confirmed or suspected diagnosis of Costello Syndrome. Diagnosis may be made clinically and\u002For confirmed through genetic testing.",{"label":28,"type":10,"description":29,"interventionNames":10},"Legius Syndrome","Individuals with a confirmed or suspected diagnosis of Legius Syndrome. Diagnosis may be made clinically and\u002For confirmed through genetic testing.",{"label":31,"type":10,"description":32,"interventionNames":10},"Smith-Kingsmore Syndrome","Individuals with a confirmed or suspected diagnosis of Smith-Kingsmore Syndrome. Diagnosis may be made clinically and\u002For confirmed through genetic testing.",{"label":34,"type":10,"description":35,"interventionNames":10},"GATOR-1 Mutation","Individuals with a suspected or known mutation of GATOR-1.",{"label":37,"type":10,"description":38,"interventionNames":10},"SYNGAP1-Related Intellectual Disability","Individuals with a suspected or known mutation of SYNGAP1.",{"label":40,"type":10,"description":41,"interventionNames":10},"DLG4 Mutation","Individuals with a suspected or known mutation of DLG4.",{"label":43,"type":10,"description":44,"interventionNames":10},"MAPK1 Gene Mutation","Individuals with a suspected or known mutation of MAPK1.",{"label":46,"type":10,"description":47,"interventionNames":10},"MTOR Gene Mutation","1. Individuals with a suspected or known mutation of a gene associated with the MTOR cellular pathway. Diagnosis may be made clinically and\u002For confirmed through genetic testing.\n2. Unaffected relatives of individuals with a suspected or known mutation of a gene associated with the MTOR cellular pathway.",{"label":49,"type":10,"description":50,"interventionNames":10},"RAS Mutation","1. Individuals with a suspected or known mutation of a gene associated with the RAS\u002FMAPK cellular pathway. Diagnosis may be made clinically and\u002For confirmed through genetic testing.\n2. Unaffected relatives of individuals with a suspected or known mutation of a gene associated with the RAS\u002FMAPK cellular pathway.",[52],{"name":53,"affiliation":5,"role":54},"Kathryn N Weaver, MD","PRINCIPAL_INVESTIGATOR",[56,61],{"name":57,"role":58,"phone":59,"phoneExt":10,"email":60},"Lindsey Aschbacher-Smith, MS","CONTACT","513-803-0077","Lindsey.Aschbacher-Smith@cchmc.org",{"name":62,"role":58,"phone":63,"phoneExt":10,"email":64},"Laurie Bailey, MS","513-636-4507","Laurie.Bailey@cchmc.org",[66],{"facility":67,"status":68,"city":69,"state":70,"zip":71,"country":72,"countryCode":73,"cosmosGeoPoint":74,"geoPoint":79,"contacts":80},"Cincinnati Children's Hospital Medical Center","RECRUITING","Cincinnati","Ohio","45229","United States","US",{"type":75,"coordinates":76},"Point",[77,78],-84.51439,39.12711,{"lat":78,"lon":77},[81,83,86],{"name":57,"role":58,"phone":82,"phoneExt":10,"email":60},"513.803.0077",{"name":62,"role":58,"phone":84,"phoneExt":10,"email":85},"(513) 636-4507","laurie.bailey@cchmc.org",{"name":87,"role":54,"phone":10,"phoneExt":10,"email":10},"Carlos E Prada, MD",{"type":89,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100392859","rasopathy-biorepository-100392859",false,"NCT04395495","RASopathy Biorepository","Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.","Inclusion Criteria:\n\n* Patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies (e.g., Neurofibromatosis, Costello Syndrome, Noonan Syndrome). Diagnosis may be made clinically and\u002For confirmed through genetic testing.\n* Unaffected relatives of patients with a suspected or known diagnosis of any of the group of disorders known as RASopathies.\n\nExclusion Criteria:\n\n* Individuals who do not have a suspected or definite diagnosis of a RASopathy.\n* Individuals who do not have a relative with a suspected or definite diagnosis of a RASopathy.\n* Patients who do not have the ability\u002Fcapacity to undergo the informed consent process OR whose parent\u002Flegal guardian is unable to undergo the informed consent process.",true,"ALL",{"count":100,"type":101},1000,"ESTIMATED","50 Years","OBSERVATIONAL","The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras\u002Fmitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function of this pathway is critical to normal development. Each syndrome in this group of disorders has unique phenotypic features, but there are many overlapping features including facial features, heart defects, cutaneous abnormalities, cognitive delays, and a predisposition to malignancies. This research study proposes to collect and store human bio-specimens from patients with suspected or diagnosed RASopathies. Once obtained, blood and\u002For tissue samples will be processed for: metabolic function studies, biomarkers, genetic studies, and\u002For the establishment of immortalized cell lines. In addition, data from the medical record (including neuropsychological evaluations) and surveys will be stored to create a longitudinal database for research conducted at CCHMC or at other research institutions.",[49,106,13,107,19,22,25,28,31,46,108,37,109,43],"Neurofibromatosis 1","Noonan Syndrome With Multiple Lentigines","GATOR-1 Gene Mutation","DLG4","2025-12-10",{"date":112,"type":113},"2025-12-18","ACTUAL",{"date":115,"type":113},"2017-06-27",{"date":117,"type":101},"2065-12",{"name":5,"class":6},1]