[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cardiofaciocutaneous-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cardiofaciocutaneous-syndrome":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,47,82],{"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":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":15,"sex":16,"minAge":54,"maxAge":4,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":58,"briefSummary":60,"conditions":61,"keywords":63,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":73,"lastUpdatePostDateStruct":74,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":81},"100467058","acceptance-and-commitment-therapy-for-caregivers-of-children-with-a-rasopathy-an-internal-pilot-feasibility-study-and-follow-up-randomized-controlled-trial-100467058","NCT05361811","Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial","Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Phase III Randomized Controlled Trial","* INCLUSION CRITERIA:\n* Ability to understand and the willingness to sign a written informed consent document\n* Ability to read and speak English\n* Age \\>= 18 years\n* Caregiver (defined as parent or legal guardian) of a child (\\\u003C 18 years) with a diagnosis of a RASopathy syndrome including NF1, Noonan Syndrome, Legius Syndrome, CFC, and Costello Syndrome, or another RASopathy\n* The participant s child with a RASopathy must live with them at least 50% of the time\n* Access to necessary resources for participating in a technology-based intervention (i.e., computer, smartphone, internet access) or be willing to use an iPod provided by study team.\n* Must score a 15 or higher total score on modified questions from the Parental Stress Scale (PSS), indicating endorsement of the midpoint response on average and thus a moderate level of parenting stress.\n* Caregiver must not be participating in or planning to participate in psychosocial intervention primarily targeting parenting stress over the duration of the study. Caregivers are able to receive interventions for other mental health concerns as long as parenting stress is not the main focus of treatment.\n\nEXCLUSION CRITERIA:\n\n* Another caregiver in the same household is participating in this protocol. If two caregivers in the same household want to participate, we will inform them that one can enroll on the protocol and the other can receive the intervention materials (e.g., parent workbook, audio recordings) to practice on their own. The reason for this is that parents participating with their partner may interact with the intervention differently and have more direct support than other participants. We will collect data on how many caregivers live in the household and how often the second parent engaged with the parent workbook and audio recordings in our pre and post study questionnaires.\n* Uncontrolled psychiatric illness, cognitive impairments, or other circumstance as judged by the Principal Investigator, a licensed psychologist, that would limit compliance with study requirements","18 Years",{"count":56,"type":21},70,"INTERVENTIONAL",[59],"NA","Background:\n\nRASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful. Acceptance and Commitment Therapy (ACT) is a therapy that helps people become more aware and accepting of difficult thoughts and feelings. ACT has been found to be helpful for parents with high parenting stress.\n\nObjective:\n\nTo find out if Acceptance and Commitment Therapy (ACT) can help caregivers of children with a RASopathy better cope with parenting stress.\n\nEligibility:\n\nPeople aged 18 years or older who care for a child (younger than 18 years) with a RASopathy. The child must live with the caregiver at least 50% of the time.\n\nDesign:\n\nThe study is fully remote. Participants need a mobile device that can play audio and video and connect to the internet. They can borrow an iPod if needed.\n\nParticipants will download a free app called MetricWire. They will use this app to watch videos and answer questions.\n\nThe first 8 participants will be in a pilot study. They will receive the ACT intervention starting the first week after they begin the study.\n\nAfter the pilot study, we will start a new phase called the randomized trial. In this phase, participants will have a 50-50 chance of being in the group that will start the intervention right away or the group that will start the intervention after about 2 months.\n\nParticipants will fill out surveys on 5 random days each week. These surveys have 7 questions and take about 2 minutes. They will also fill out 3 longer questionnaires: once before ACT begins, once just after the 8-week study period, and once about 3 months later. Questions will cover topics including:\n\nParenting stress\n\nLife satisfaction\n\nSelf-compassion\n\nUncomfortable feelings and thoughts\n\nMindfulness\n\nParticipants will take part in an 8-week ACT intervention. They will have one 75-minute session with an ACT coach in the first week.\n\nParticipants will watch 9- to 17-minute videos each week. The videos talk about how to practice ACT techniques to cope with parenting stress.\n\nParticipants will have 20- to 30-minute coaching sessions in weeks 3 and 6. The coach will help them practice exercises and work through any problems.",[62,26,28,27,25],"Neurofibromatosis 1",[64,65,66,67,68,69,70,71,72],"Parenting","Stress","Parent","Therapist","Coach","virtual","Quality of Life","Genetic Condition","Rare","2026-02-18",{"date":75,"type":38},"2026-02-19",{"date":77,"type":38},"2024-01-10",{"date":79,"type":21},"2027-12-31",{"name":44,"class":45},1,{"id":83,"slug":84,"hasResults":11,"nctId":85,"briefTitle":86,"officialTitle":87,"acronym":4,"eligibilityCriteria":88,"healthyVolunteers":15,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":89,"targetDuration":91,"studyType":22,"phases":4,"briefSummary":92,"conditions":93,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":103,"lastUpdatePostDateStruct":104,"startDateStruct":106,"completionDateStruct":108,"leadSponsor":110,"locationsCount":81},"100392859","rasopathy-biorepository-100392859","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.",{"count":90,"type":21},1000,"50 Years","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.",[94,62,26,95,96,27,25,28,97,98,99,100,101,102],"RAS Mutation","Noonan Syndrome With Multiple Lentigines","Noonan Neurofibromatosis Syndrome","Smith-Kingsmore Syndrome","MTOR Gene Mutation","GATOR-1 Gene Mutation","SYNGAP1-Related Intellectual Disability","DLG4","MAPK1 Gene Mutation","2025-12-10",{"date":105,"type":38},"2025-12-18",{"date":107,"type":38},"2017-06-27",{"date":109,"type":21},"2065-12",{"name":111,"class":112},"Children's Hospital Medical Center, Cincinnati","OTHER"]