[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"noonan-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:noonan-syndrome":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,11,0,[8,47,79,105,128,160,194,223,251,281,303],{"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":11,"sex":16,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":58,"phases":59,"briefSummary":61,"conditions":62,"keywords":63,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":71,"completionDateStruct":73,"leadSponsor":75,"locationsCount":78},"100567485","phase-2-a-study-of-vosoritide-in-children-with-noonan-syndrome-with-inadequate-growth-during-or-after-human-growth-hormone-treatment-100567485","NCT06668805","A Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment","A Phase 2, Randomized, Multicenter, Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment","Inclusion Criteria:\n\n1. Participants must be ≥ 3 years old, and \\\u003C 11 years old (females) or \\\u003C 12 years old (males), at the time of signing the informed consent form\n2. A genetically confirmed diagnosis of Turner syndrome, SHOX deficiency or Noonan syndrome.\n3. A height assessment corresponding to a height Z-score of ≤ -1.28 SDs (below the 10th percentile for height) in reference to the general population of the same age and sex.\n4. Tanner Stage 1, at time of signing the ICF.\n5. Previous or current hGH treatment for short stature associated with their condition.\n6. Inadequate growth confirmed with an AGV that is less than age- and sex-matched average stature AGV determined using median heights from CDC growth charts\n\nExclusion Criteria:\n\n1. Participants with Turner syndrome known to have Y-chromosome material unless they have undergone gonadectomy and have fully external female genitalia.\n2. Diagnosis of systemic disease or condition that may cause short stature other than Turner syndrome, SHOX deficiency, or Noonan syndrome, eg, renal, neoplastic, pulmonary, cardiac, gastrointestinal, immunologic and metabolic disease.\n3. Bone age advanced beyond chronological age by more than 2 years.\n4. Uncorrected congenital heart disease which places the participant at increased risk of an adverse cardiac outcome in the setting of hypotension,\n5. Have an unstable condition likely to require surgical intervention during the study.\n6. Evidence of decreased growth velocity (AGV \\\u003C 1.5 cm\u002Fyear) as assessed over a period of at least 6 months and growth plate closure assessed using bilateral lower extremity X-rays.\n7. Previous limb-lengthening surgery, or planned or expected to have limb lengthening surgery during the study period.\n8. Planned or expected bone-related surgery (ie, surgery involving disruption of bone cortex, excluding tooth extraction), during the study period.","3 Years","11 Years",{"count":57,"type":21},30,"INTERVENTIONAL",[60],"PHASE2","The purpose of this study in children with Noonan syndrome is to evaluate the effect of 3 doses of vosoritide on growth as measured by AGV after 6 months of treatment. The long-term efficacy and safety of vosoritide at the therapeutic dose will be evaluated up to FAH.",[26],[64,65,66,67],"Short Stature","Musculoskeletal Diseases","Bone Diseases","Developmental Endocrine System Diseases Natriuretic Peptide, C-Type","2026-05-07",{"date":70,"type":38},"2026-05-11",{"date":72,"type":38},"2024-11-22",{"date":74,"type":21},"2041-09",{"name":76,"class":77},"BioMarin Pharmaceutical","INDUSTRY",36,{"id":80,"slug":81,"hasResults":11,"nctId":82,"briefTitle":83,"officialTitle":84,"acronym":85,"eligibilityCriteria":86,"healthyVolunteers":11,"sex":16,"minAge":87,"maxAge":18,"enrollmentInfo":88,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":90,"conditions":91,"keywords":92,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":94,"lastUpdatePostDateStruct":95,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":101,"locationsCount":104},"100454797","constitution-of-a-biological-collection-to-study-the-pathophysiology-in-noonan-syndrome-100454797","NCT05202210","Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome","Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome and to Identify Predictive Factors of Disease Progression","Noonan","Inclusion Criteria:\n\n* Children aged at least 3 years old or adult with Noonan syndrome\n* Patients affiliated to or beneficiaries of a social security scheme\n* Patients able to receive information on the progress of the study and understand the information form to participate in the study. That implies to master the French language and not to be subject to a restriction of rights by the judicial authorities\n* Patients or legal representative who have given their consent to participate in the study (expression of no objection)\n\nExclusion Criteria:\n\n* Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)\n* Pregnant or breastfeeding women","18 Years",{"count":89,"type":21},100,"The present study will establish a collection of biological samples from Noonan patients to be used for research purposes only, with due respect for confidentiality.",[26],[93,26],"Biological collection","2026-03-16",{"date":96,"type":38},"2026-03-19",{"date":98,"type":38},"2022-01-26",{"date":100,"type":21},"2032-01-26",{"name":102,"class":103},"University Hospital, Toulouse","OTHER",1,{"id":106,"slug":107,"hasResults":11,"nctId":108,"briefTitle":109,"officialTitle":109,"acronym":4,"eligibilityCriteria":110,"healthyVolunteers":11,"sex":16,"minAge":111,"maxAge":112,"enrollmentInfo":113,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":115,"conditions":116,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"locationsCount":127},"100628682","national-multicentre-study-on-lipid-profile-in-noonan-syndrome-and-related-disorders-trends-by-age-gender-and-genotype-100628682","NCT07464821","National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype","Inclusion Criteria:\n\n* Clinically diagnosed RASopathy confirmed by molecular testing;\n* Patients referred to participating centers between 01\u002F01\u002F2001 and 31\u002F12\u002F2022;\n* Age at enrollment between 2 and 35 years, inclusive;\n* Obtaining informed consent.\n\nExclusion Criteria:\n\n* None.","2 Years","35 Years",{"count":114,"type":21},200,"RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.",[117,26],"RASopathies","2026-03-09",{"date":120,"type":38},"2026-03-11",{"date":122,"type":38},"2025-02-26",{"date":124,"type":21},"2027-04-26",{"name":126,"class":103},"IRCCS Azienda Ospedaliero-Universitaria di Bologna",14,{"id":129,"slug":130,"hasResults":11,"nctId":131,"briefTitle":132,"officialTitle":133,"acronym":4,"eligibilityCriteria":134,"healthyVolunteers":15,"sex":16,"minAge":87,"maxAge":4,"enrollmentInfo":135,"targetDuration":4,"studyType":58,"phases":137,"briefSummary":139,"conditions":140,"keywords":142,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":152,"lastUpdatePostDateStruct":153,"startDateStruct":155,"completionDateStruct":157,"leadSponsor":159,"locationsCount":104},"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",{"count":136,"type":21},70,[138],"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.",[141,26,28,27,25],"Neurofibromatosis 1",[143,144,145,146,147,148,149,150,151],"Parenting","Stress","Parent","Therapist","Coach","virtual","Quality of Life","Genetic Condition","Rare","2026-02-18",{"date":154,"type":38},"2026-02-19",{"date":156,"type":38},"2024-01-10",{"date":158,"type":21},"2027-12-31",{"name":44,"class":45},{"id":161,"slug":162,"hasResults":11,"nctId":163,"briefTitle":164,"officialTitle":165,"acronym":4,"eligibilityCriteria":166,"healthyVolunteers":15,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":167,"targetDuration":169,"studyType":22,"phases":4,"briefSummary":170,"conditions":171,"keywords":178,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":185,"lastUpdatePostDateStruct":186,"startDateStruct":188,"completionDateStruct":190,"leadSponsor":192,"locationsCount":104},"100618805","precision-diagnosis-and-risk-stratification-of-rare-cardiomyopathies-based-on-novel-cardiac-magnetic-resonance-techniques-100618805","NCT07336394","Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques","Multimodality Imaging (Cardiovascular Magnetic Resonance Imaging, Echocardiography, and Nuclear Medicine Imaging) in the Screening, Diagnosis and Risk Stratification of Rare Cardiomyopathies - a Multicenter Study","Inclusion Criteria:\n\n* Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.\n\nExclusion Criteria:\n\n* Severe arrhythmia;\n* Severe primary cardiac valvular disease;\n* Refuse to participate in the study.",{"count":168,"type":21},1000,"10 Years","What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions where the heart muscle becomes stiff, thick, or enlarged, making it harder for the heart to pump blood. Because they are rare, they can be difficult to diagnose and manage.\n\nThe investigators are testing new, advanced ways of using a heart scan called a Cardiac Magnetic Resonance (CMR). Participants can think of a CMR as a very powerful camera that takes detailed pictures of their heart without using radiation.\n\nWhat is the study trying to learn? Better Diagnosis: The investigators want to see if these new scanning techniques can help us identify these rare heart conditions more clearly and accurately. This means patients could get a correct diagnosis sooner.\n\nPersonalized Risk Assessment: The investigators want to see if the scan can help us understand the future risk for each patient better. For example, can it help predict which patients are more likely to have a heart rhythm problem or need specific treatments? This helps doctors create a care plan that is tailored just for participants.\n\nWhat does this mean for participants? If participants choose to take part, they will undergo a CMR scan that uses these new techniques. By participating, they will be helping us find better ways to diagnose and care for people with their condition in the future. The goal is to turn uncertainty into clearer, more personalized information for patients and families.",[172,173,174,26,175,176,177],"Danon Disease","Fabry Disease","Cardiac Amyloidosis","Cardiac Sarcoidosis","Glycogen Storage Disease","Idiopathic Cardiomyopathy",[179,180,181,182,183,184],"cardiovascular magnetic resonance imaging","early diagnosis","prognosis","rare cardiomyopathies","nuclear medicine imaging","echocardiography","2026-01-19",{"date":187,"type":38},"2026-01-21",{"date":189,"type":38},"2010-01-01",{"date":191,"type":21},"2030-12-30",{"name":193,"class":103},"Chinese Academy of Medical Sciences, Fuwai Hospital",{"id":195,"slug":196,"hasResults":11,"nctId":197,"briefTitle":198,"officialTitle":199,"acronym":4,"eligibilityCriteria":200,"healthyVolunteers":15,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":201,"targetDuration":202,"studyType":22,"phases":4,"briefSummary":203,"conditions":204,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":214,"lastUpdatePostDateStruct":215,"startDateStruct":217,"completionDateStruct":219,"leadSponsor":221,"locationsCount":104},"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":168,"type":21},"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.",[205,141,26,206,207,27,25,28,208,209,210,211,212,213],"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":216,"type":38},"2025-12-18",{"date":218,"type":38},"2017-06-27",{"date":220,"type":21},"2065-12",{"name":222,"class":103},"Children's Hospital Medical Center, Cincinnati",{"id":224,"slug":225,"hasResults":11,"nctId":226,"briefTitle":227,"officialTitle":228,"acronym":229,"eligibilityCriteria":230,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":231,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":232,"conditions":233,"keywords":234,"overallStatus":241,"whyStopped":4,"lastUpdateSubmitDate":242,"lastUpdatePostDateStruct":243,"startDateStruct":245,"completionDateStruct":247,"leadSponsor":249,"locationsCount":104},"100612865","link-between-abnormal-bleeding-and-coagulation-disorders-in-noonan-syndromes-100612865","NCT07259135","Link Between Abnormal Bleeding and Coagulation Disorders in Noonan Syndromes","Hemorrhagic Risk and Hemostasis Disorders in Noonan Syndrome and Related Conditions","PlatNoon","Inclusion Criteria:\n\n* All patients with SN, regardless of age\n* Patient\u002Fparental guardians informed of the study\n* Patient\u002Flegal representative not opposed to the use of their\u002Fthe child's data\n* Person affiliated or benefiting from a social security scheme\n\nExclusion Criteria:\n\n\\- Adults protected by law (guardianship, curatorship or safeguard of justice)",{"count":89,"type":21},"Noonan syndrome is a relatively rare genetic disorder, affecting around 1 in every 1,000 to 2,500 children born. Patients often have a tendency to bleed more easily, particularly from the skin or mucocutaneous tissue (such as mouth or nose). Around half of all the patients are affected by bleedings. The causes of bleeding are variable : some are linked to platelet disorders, others to more complex coagulation problems. However, it is difficult to predict exactly which patients are at risk of severe bleeding, for example during surgery. This is why there are as yet no clear recommendations for preventing this risk before medical intervention. However, it is recommended that patients with Noonan syndrome consult a specialist to assess this risk. Unfortunately, the tests carried out are often unreliable in predicting this significant risk of bleeding. In this study, data from a large group of patients with Noonan syndrome, followed-up in different centers in France, will be studied. During a medical meeting as part of their regular follow-up, a medical doctor assessed their tendency to bleed using a standardized questionnaire (standardized ISTH-BAT score). These results will be compared with the biological tests also performed during their medical follow-up. The aim is to better understand whether these tests are useful in predicting the risk of bleeding. Ultimately, this could help practicians to better anticipate surgical or medical interventions in these patients, and limit bleeding-related risk.",[26],[85,235,236,237,238,239,240],"Retrospective","Prediction","Hemorrhagic","Hemostasis","Bleeding","Surgery","NOT_YET_RECRUITING","2025-11-20",{"date":244,"type":38},"2025-12-02",{"date":246,"type":21},"2026-01",{"date":248,"type":21},"2027-01",{"name":250,"class":103},"University Hospital, Bordeaux",{"id":252,"slug":253,"hasResults":11,"nctId":254,"briefTitle":255,"officialTitle":256,"acronym":257,"eligibilityCriteria":258,"healthyVolunteers":11,"sex":16,"minAge":259,"maxAge":87,"enrollmentInfo":260,"targetDuration":4,"studyType":58,"phases":262,"briefSummary":263,"conditions":264,"keywords":266,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":272,"lastUpdatePostDateStruct":273,"startDateStruct":275,"completionDateStruct":277,"leadSponsor":279,"locationsCount":104},"100558754","phase-2-mek-inhibitors-for-the-treatment-of-hypertrophic-cardiomyopathy-in-patients-with-rasopathies-100558754","NCT06555237","MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies","MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies (MEKinRAS) - Randomized Controlled Trial","MEKinRAS","Inclusion Criteria:\n\n* patient with diagnosed RASopathy\n* patient with diagnosed hypertrophic cardiomyopathy\n* signed innform consent\n\nExclusion Criteria:\n\n* contraindications to treatment with propranolol (drug hypersensitivity, atrioventricular block, severe bradycardia) disopyramide (drug hypersensitivity, WPW syndrome, atrioventricular block, QT prolongation) trametinib (drug hypersensitivity)\n* lack of consent of the child's guardians to participate in the study","1 Day",{"count":261,"type":21},40,[60],"The goal of this study is to evaluate the effectiveness of trametinib treatment in patients with Hyperthropic cardiomyopathy and a genetic mutation in the RAS\u002FMAPK pathway.",[265,26],"Cardiomegaly",[267,268,269,270,271],"Noonan syndrome","MEK kinase","RASOpathies","Children","Cardiomyopathy","2024-08-12",{"date":274,"type":38},"2024-08-15",{"date":276,"type":38},"2024-08-01",{"date":278,"type":21},"2026-12-01",{"name":280,"class":103},"Medical University of Warsaw",{"id":282,"slug":283,"hasResults":11,"nctId":284,"briefTitle":285,"officialTitle":286,"acronym":287,"eligibilityCriteria":288,"healthyVolunteers":15,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":289,"targetDuration":4,"studyType":58,"phases":290,"briefSummary":291,"conditions":292,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":294,"lastUpdatePostDateStruct":295,"startDateStruct":297,"completionDateStruct":299,"leadSponsor":301,"locationsCount":104},"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":89,"type":21},[138],"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.",[30,25,293,26],"Cardio-Facio-Cutaneous Syndrome","2024-04-03",{"date":296,"type":38},"2024-04-04",{"date":298,"type":38},"2021-10-12",{"date":300,"type":21},"2026-10-12",{"name":302,"class":103},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS",{"id":304,"slug":305,"hasResults":11,"nctId":306,"briefTitle":307,"officialTitle":308,"acronym":309,"eligibilityCriteria":310,"healthyVolunteers":11,"sex":16,"minAge":87,"maxAge":4,"enrollmentInfo":311,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":313,"conditions":314,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":347,"lastUpdatePostDateStruct":348,"startDateStruct":350,"completionDateStruct":352,"leadSponsor":354,"locationsCount":104},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None",{"count":312,"type":21},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,26,346],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Tuberous Sclerosis","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","Rett Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Williams-Beuren Syndrome","2023-09-04",{"date":349,"type":38},"2023-09-06",{"date":351,"type":38},"2018-10-01",{"date":353,"type":21},"2030-01-01",{"name":355,"class":103},"dr. Laura C. G. de Graaff-Herder"]