[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rasopathy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rasopathy":30},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,47,72,94,117],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":31,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100430734","clinical-genetic-and-epidemiologic-study-of-children-and-adults-with-rasopathies-100430734",false,"NCT04888936","Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies","* INCLUSION CRITERIA:\n\nCarriers: An individual who meets any of the following criteria will be eligible to participate in this study:\n\n* Individuals with a clinical diagnosis of a RASopathy, including Costello syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines, Cardiofaciocutaneous syndrome, Legius syndrome, capillary arteriovenous malformation syndrome, or others, are eligible. Published clinical diagnostic criteria exist for most of the clinical RASopathy syndromes and differ by syndrome. It will be uncommon for individuals to have a clinical diagnosis and not have had molecular genetic testing. All individuals considered by the study team to be at risk for a RASopathy who have not had prior genetic testing will have this completed as part of the study. The rare individuals with a clinical diagnosis of a RASopathy who are not found to carry a corresponding pathogenic or likely pathogenic variant in a known RASopathy gene will be considered for exome analysis for identification of potentially novel RASopathy germline variation.\n* Individuals with a germline variant (P\u002FLP or a variant of uncertain significance but predicted bioinformatically to be damaging) in a RASopathy-associated gene are eligible. These include but are not limited to: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1,\n\nMAP2K2, MAP3K8, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1. From herein, we refer to 1) individuals with germline pathogenic variation in a RAS pathway gene AND 2) individuals with a clinical RASopathy diagnosis but in whom a genetic variant has not yet been identified as \"carriers.\" The first member of a family to be identified is termed a \"proband.\"\n\n* Individuals with NF1 only are not eligible for the study. However, individuals with a dual diagnosis of both NF1 and another RASopathy (via genetic testing and\u002For clinical diagnosis) are eligible for the study.\n* All types and amounts of prior therapies are allowed.\n* There is no age restriction.\n* There is no restriction related to organ and marrow function.\n* Each carrier (or their appropriate surrogate if the carrier is unable) must sign an IRB-approved document of informed consent to demonstrate their understanding of the investigational nature and the risk of this study before any protocol-related studies are\n\nperformed.\n\nControls: Family members of carriers are eligible for enrollment. Genetic testing in a CLIA-certified lab will be offered to these blood-related family members to establish whether or not a variant may be segregating in a family with incomplete penetrance. As most of the RASopathy syndromes are sporadic, extensive testing and enrollment of extended family members (grandparents, aunts, uncles) will likely not be necessary in many pedigrees. Family members who have undergone genetic testing for the proband s RAS variant and do not harbor it (or non-blood-related family members) are controls. Carriers and controls in this study are referred to as \"participants,\" \"individuals,\" or \"patients.\"\n\n* All types and amounts of prior therapies are allowed.\n* There is no age restriction.\n* There is no restriction related to organ and marrow function.\n* Each control (or their appropriate surrogate if the control is unable) must sign an IRB-approved document of informed consent to demonstrate their understanding of the investigational nature and the risk of this study before any protocol-related studies are\n\nperformed.\n\nResearch Eligibility Evaluation: This is solely a function of meeting the inclusion criteria described above and not fulfilling any of the exclusion criteria below.\n\nEXCLUSION CRITERIA:\n\nCarriers: An individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Individuals with only a diagnosis of NF1, or a newly identified germline pathogenic germline variant in NF1, and first-degree relatives of these patients are ineligible. However, individuals with a dual diagnosis of both NF1 and another RASopathy (via genetic testing and\u002For clinical diagnosis) are eligible for the study.\n* Individuals who, in the opinion of the investigator, are not able to return for follow-up visits or obtain required follow-up studies will be excluded from participation in the NIH Clinical Center Cohort.\n\nControls: An individual who meets any of the following criteria will be excluded from participation in this study:\n\n--Individuals who, in the opinion of the investigator, are not able to return for follow-up visits or obtain required follow-up studies will be excluded from participation in the NIH Clinical Center Cohort.",true,"ALL","1 Month","99 Years",{"count":20,"type":21},500,"ESTIMATED","OBSERVATIONAL","Background:\n\nRASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more.\n\nObjective: To learn more about RASopathies, how genes and environmental factors contribute to cancer development in people with RASopathies, and the best way to find these cancers and other conditions early or prevent them.\n\nEligibility:\n\nPeople of any age who have or may have a RASopathy, and their family members.\n\nDesign:\n\nParticipants will complete questionnaires about their personal and family medical history. Their medical records will be reviewed.\n\nParticipants will give blood and urine samples. They will give a saliva or cheek cell sample. Some samples will be used for genetic testing.\n\nParticipants may have a skin biopsy.\n\nParticipants may have a physical exam by the RASopathies study team. They may also have exams by additional specialists, such as dentists; urologists; ear, nose, and throat doctors; and neurologists.\n\nParticipants may have computed tomography of the face and mouth. They may have an ultrasound of the abdomen. They may have a bone density scan. They may have skeletal and\u002For spine x-rays. They may have magnetic resonance imaging of the brain, low back, chest, and\u002For heart. They may be photographed.\n\nParticipants may have other tests, such as sleep, brain and heart electrical activity, speech and swallow, metabolism, hearing, eye, and colon function tests.\n\nParticipants may sign separate consent forms for some tests.\n\nParticipation will last indefinitely. Participants may be contacted once in a while by phone or mail. They may have follow-up visits.",[25,26,27,28,29,30],"Costello Syndrome","Noonan Syndrome","Cardiofaciocutaneous Syndrome","Legius Syndrome","Capillary Arteriovenous Malformation Syndrome","RASopathy",[32,33],"Ras\u002FMAPK pathway","Natural History","RECRUITING","2026-06-10",{"date":37,"type":38},"2026-06-11","ACTUAL",{"date":40,"type":38},"2022-04-25",{"date":42,"type":21},"2035-01-31",{"name":44,"class":45},"National Cancer Institute (NCI)","NIH",2,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":54,"targetDuration":56,"studyType":22,"phases":4,"briefSummary":57,"conditions":58,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":71},"100619427","retrospective-natural-history-study-of-rasopathy-associated-cardiomyopathy-ras-cm-100619427","NCT07344480","Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)","RAS-CM","Inclusion Criteria:\n\n* Molecular genetic diagnosis of a RASopathy (i.e., a pathogenic or likely pathogenic variant in one of the RAS-MAPK pathway genes identified, irrespective of when performed)\n* Imaging diagnosis of myocardial hypertrophy (echocardiography) showing a maximal end-diastolic wall thickness of greater than normal (z-score \\> 2) with or without outflow tract obstruction\n* Admitted to hospital between 01\u002F01\u002F2015 and 06\u002F30\u002F2019 for congestive heart failure\\* or developing progressive congestive heart failure during any hospital stay within first 6 months of life\\*\\*\n\n  * Ross score calculated from medical history and physical examination notes in the absence of any other reason prompting hospital admission (e.g., elective procedure, other organ dysfunction, etc.); \\*\\*: defined by Ross Score greater than 2\n\nExclusion Criteria:\n\n* Receiving mechanistic Target of Rapamycin Inhibitor (mTOR inhibitor) and\u002For Mitogen-Activated Protein Kinase Kinase Inhibitor (MEK inhibitors)\n* Inability to identify or retrospectively calculate the patient´s Ross Score within the first six months of life",{"count":55,"type":21},100,"12 Months","RASopathy-associated hypertrophic cardiomyopathy (RAS-CM) is a disease with high morbidity and high mortality if presenting during infancy. Targeted therapies have shown significant activity in preclinical models and case reports. Drugs that target the underlying cause of this disease are now developed in cancer patients. Conducting randomized trials is not possible in severely ill infants with RAS-CM. Existing historical controls from older eras are not sufficient as external controls to support drug development as they lack critical clinical and genetic information to allow comparison with the cohort planned for future clinical trials.\n\nThe purpose of this investigator-initiated retrospective natural history study is to collect clinical information and genetic information in patients with RAS-CM. The first goal is to establish a data set that meets regulatory requirements for the use as external control data in a future clinical trial, composing non-randomized, single-arm, open-label study cohorts. The second goal is to obtain natural history information that supports the selection of secondary exploratory endpoints chosen in a clinical trial.",[59,60,30],"Hypertrophic Cardiomyopathy (HCM)","Heart Failure","2026-02-16",{"date":63,"type":38},"2026-02-18",{"date":65,"type":38},"2025-06-17",{"date":67,"type":21},"2026-12-31",{"name":69,"class":70},"Deutsches Herzzentrum Muenchen","OTHER",1,{"id":73,"slug":74,"hasResults":11,"nctId":75,"briefTitle":76,"officialTitle":76,"acronym":4,"eligibilityCriteria":77,"healthyVolunteers":11,"sex":16,"minAge":78,"maxAge":79,"enrollmentInfo":80,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":82,"conditions":83,"keywords":84,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":85,"lastUpdatePostDateStruct":86,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":71},"100575753","pubertal-development-in-patients-with-rasopathies-100575753","NCT06776380","Pubertal Development in Patients with RASopathies","Inclusion Criteria:\n\n* Age at enrollment between 8 and 35 years, extremes included;\n* Molecularly confirmed clinical diagnosis of RASopathy;\n* Complete pubertal development;\n* Obtaining informed consent for participation in the study and processing of personal data.\n\nExclusion Criteria:\n\n• None.","8 Years","35 Years",{"count":81,"type":21},40,"Retrospective, single-centre, non-profit, observational study on pubertal development in patients with RASopathies.\n\nLiterature data shows that puberty can be delayed by about 2 years in patients with RASopathies and this has been associated with a reduced peak growth rate. To date, only a few numerically limited case series without molecular characterisation have been published.\n\nThis descriptive study should improve knowledge of pubertal development and its influence on growth and final stature. The primary aims are to describe the age of onset and progression of pubertal development in the cohort of patients with RASopathies, both male and female, and to describe the influence of pubertal development on statural growth and final stature in the same cohort.",[30],[30],"2025-01-13",{"date":87,"type":38},"2025-01-15",{"date":89,"type":38},"2024-07-25",{"date":91,"type":21},"2025-02-28",{"name":93,"class":70},"IRCCS Azienda Ospedaliero-Universitaria di Bologna",{"id":95,"slug":96,"hasResults":11,"nctId":97,"briefTitle":98,"officialTitle":99,"acronym":100,"eligibilityCriteria":101,"healthyVolunteers":15,"sex":16,"minAge":102,"maxAge":103,"enrollmentInfo":104,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":106,"conditions":107,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":108,"lastUpdatePostDateStruct":109,"startDateStruct":111,"completionDateStruct":113,"leadSponsor":115,"locationsCount":71},"100553667","study-of-the-thyroid-function-and-echostructural-morphology-in-patients-affected-with-rasopathies-ecoras2023-100553667","NCT06489067","Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies (ECORAS2023)","Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies. An Italian Multicenter Study","ECORAS2023","Inclusion Criteria:\n\n* Genetically confirmed RASopathy\n* Age 3-25 years\n\nExclusion Criteria:\n\n* Previous radiotherapy treatments, known exposure to ionizing radiation\n* Iodine deficiency\n* Use of iodine-based compounds or drugs that interfere with thyroid function\n* Congenital hypothyroidism\u002Fhyperthyroidism\n* Severe obesity with metabolic complications","3 Years","25 Years",{"count":105,"type":21},115,"The study aims to evaluate the prevalence of thyroid disease, particularly with autoimmune pathogenesis (isolated hyperthyrotropinemia, hyperthyroidism, hypothyroidism, thyroid nodules) and\u002For morphostructural abnormalities of the thyroid gland in patients with RASopathy genetically confirmed by NGS technique (analysis of the genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2) and to compare the data obtained in our sample with those of the general population.\n\nThe secondary aim of the study is to evaluate the association between vitamin D deficiency and\u002For other abnormalities of bone metabolism and thyroid disease and\u002For morphostructural anomalies of the thyroid gland in patients with RASopathy.",[30],"2024-07-03",{"date":110,"type":38},"2024-07-05",{"date":112,"type":38},"2024-01-15",{"date":114,"type":21},"2024-06-30",{"name":116,"class":70},"University of Bari Aldo Moro",{"id":118,"slug":119,"hasResults":11,"nctId":120,"briefTitle":121,"officialTitle":122,"acronym":123,"eligibilityCriteria":124,"healthyVolunteers":15,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":125,"targetDuration":4,"studyType":126,"phases":127,"briefSummary":129,"conditions":130,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":132,"lastUpdatePostDateStruct":133,"startDateStruct":135,"completionDateStruct":137,"leadSponsor":139,"locationsCount":71},"100497751","solid-tumors-in-rasopathies-100497751","NCT05761314","Solid Tumors in RASopathies","Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies","4218","Inclusion Criteria:\n\n* Clinical and molecularly confirmed diagnosis of a RASopathy\n\nExclusion Criteria:\n\n* Clinical diagnosis of RASopathy without molecular characterization",{"count":55,"type":21},"INTERVENTIONAL",[128],"NA","RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras\u002FMAP\u002FERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth.\n\nRASopathies are characterized by multi-organ involvement, growth delay, premature aging and haemato-oncological manifestations.\n\nBased on evidences provided by literature, cancer screening protocols are applied in some individuals affected by RASopathies, even though detailed information about prevalence and molecular pathogenesis of such tumors is still not clearly elucidate.",[30,25,131,26],"Cardio-Facio-Cutaneous Syndrome","2024-04-03",{"date":134,"type":38},"2024-04-04",{"date":136,"type":38},"2021-10-12",{"date":138,"type":21},"2026-10-12",{"name":140,"class":70},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS"]