[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"noonan-syndrome-with-multiple-lentigines\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:noonan-syndrome-with-multiple-lentigines":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":46,"leadSponsor":48,"locationsCount":5},"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":19,"type":20},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.",[25,26,27,28,29,30,31,32,33,34,35,36,37,38],"RAS Mutation","Neurofibromatosis 1","Noonan Syndrome","Noonan Syndrome With Multiple Lentigines","Noonan Neurofibromatosis Syndrome","Cardiofaciocutaneous Syndrome","Costello Syndrome","Legius Syndrome","Smith-Kingsmore Syndrome","MTOR Gene Mutation","GATOR-1 Gene Mutation","SYNGAP1-Related Intellectual Disability","DLG4","MAPK1 Gene Mutation","RECRUITING","2025-12-10",{"date":42,"type":43},"2025-12-18","ACTUAL",{"date":45,"type":43},"2017-06-27",{"date":47,"type":20},"2065-12",{"name":49,"class":50},"Children's Hospital Medical Center, Cincinnati","OTHER"]