[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"neurofibromatosis-1\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:neurofibromatosis-1":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,21,0,[8,45,70,98,125,151,179,237,264,294,327,356,385,408,428,451,476,496,511,556,581],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100420145","phase-1-cyclin-dependent-kinase-cdk46-inhibitor-abemaciclib-for-neurofibromatosis-type-i-nf1-related-atypical-neurofibromas-100420145",false,"NCT04750928","Cyclin-Dependent Kinase (CDK)4\u002F6 Inhibitor Abemaciclib for Neurofibromatosis Type I (NF1) Related Atypical Neurofibromas","A Phase 0\u002FI\u002FII Study of the Cyclin-Dependent Kinase(CDK)4\u002F6 Inhibitor Abemaciclib for Neurofibromatosis Type 1 (NF1) Related Atypical Neurofibromas","* INCLUSION CRITERIA:\n* All Participants\n* Participants must have a clinical diagnosis of NF1, i.e., participants must have at least two of the diagnostic criteria for NF1 or a confirmed NF1 mutation from a CLIA-certified laboratory:\n\n  * Six or more caf(SqrRoot)(Copyright)-au-lait macules (\\>= 0.5cm in prepubertal participants or \\>= 1.5 cm in post pubertal participants)\n  * Freckling in axilla or groin\n  * A neurofibroma or plexiform neurofibroma\n  * Optic glioma\n  * Two or more Lisch nodules\n  * A distinctive bony lesion (dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex)\n  * A first-degree relative with NF1\n* Measurable disease: Participants must have at least one measurable ANF defined as a lesion of at least 3 centimeters (cm) measured in one dimension. Measurability and suitability for volumetric MRI analysis of the target ANF must be confirmed with the NCI POB prior to enrolling a participant. The target ANF will be defined as the clinically most relevant ANF, which has to be amenable to volumetric MRI analysis.\n* Prior Therapies:\n\n  * Since there is no standard effective chemotherapy for patients with NF1 and ANF, participants may be treated on this trial without having received prior medical therapy directed at their ANF.\n  * Investigational agents\u002Fbiologic therapies (not chemotherapy): Participants who have received previous investigational agents or biologic therapies are eligible for enrollment. At least 30 days or 5 half-lives must have elapsed since receiving medical therapy directed at any NF1 related tumor. Participants who received prior medical therapy for a NF1 related tumor manifestation must have recovered from the acute toxic effects of all prior therapy to grade 1 CTCAEv5 except for residual alopecia or Grade 2 peripheral neuropathy prior to enrollment before entering this study.\n  * Chemotherapy agents: Participants who received chemotherapy must have recovered (CTCAE Grade \\\u003C=1) from the acute effects of chemotherapy except for residual alopecia or Grade 2 peripheral neuropathy prior to enrollment. A washout period of at least 28 days is required between last chemotherapy dose and enrollment (provided the participant did not receive radiotherapy).\n  * Participants who received adjuvant radiotherapy must have completed and fully recovered from the acute effects of radiotherapy. Participants who have received previous radiation therapy are eligible for enrollment. At least 6 weeks must have elapsed since the last radiation therapy and start of treatment. The only target ANF cannot have received radiation previously.\n  * At least 28 days must have elapsed since any major surgeries, with evidence of good wound healing. Minimally invasive biopsies and central line placements are not considered major surgeries.\n  * Participants who have received prior treatment with abemaciclib or another specific CDK4\u002F6 inhibitor are not eligible for enrollment\n* Adequate performance scale (Lansky\u002FKarnofsky \\>=70%).\n* Adequate organ function as defined below:\n\n  --Hematologic Function: Participants must have an absolute neutrophil count \\>=1500\u002Fmicroliter, hemoglobin \\>=9 g\u002FdL (transfusion independent, defined as not receiving blood transfusion unless related to trauma or surgeries), and platelets \\>=100,000\u002Fmicroliter (transfusion independent, defined as not receiving platelet transfusions unless related to trauma or surgeries)\n* Hepatic Function: Participants must have bilirubin within 1.5 x the upper limit of normal for age, with the exception of those with Gilbert syndrome, and AST\u002FALT within \\\u003C= 3 x upper limit of normal.\n* Renal Function: Participants must have a creatinine clearance or radioisotope GFR \\>=60ml\u002Fmin\u002F1.73 m2 or a normal serum creatinine based on age, described in the table below.\n\n  * Age (years) is \\>=12 and \\\u003C=15 then Maximum Serum Creatinine (mg\u002FdL) = 1.2\n  * Age (years) \\>15 Maximum Serum Creatinine (mg\u002FdL) = 1.5\n  * Cardiac Function: Normal ejection fraction (ECHO or cardiac MRI) \\>= 53% (or the institutional normal; if a range is given then the upper value of the range will be used); QTC or QTcF \\\u003C= 450 msec.\n* Willingness to avoid grapefruit or grapefruit juice during abemaciclib administration\n* Informed Consent: Ability of participant or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document. All participants or their legal guardians (if the participant is \\\u003C 18 years old) must sign an IRB-approved document of informed consent to demonstrate their understanding of the investigational nature and the risks of this study before any protocol-related studies are performed. When appropriate, pediatric participants will be included in all discussions.\n* Based on animal studies, the effects of abemaciclib can cause fetal harm. For these reasons, women of child-bearing potential and men must agree to use a highly effective contraceptive method during treatment and for at least 4 months after the last dose of abemaciclib. Should a woman become pregnant or suspect she is pregnant while she or her partner is participating in this study, she should inform her treating physician immediately. Men treated or enrolled on this protocol must also agree to use adequate contraception prior to the study, for the duration of study participation, and 4 months after completion of abemaciclib administration\n\n  * Woman participants of childbearing potential (WOCBP) must have a negative serum pregnancy test within 7 days of the first dose of abemaciclib.\n  * A woman is considered to be of childbearing potential if she is postmenarcheal, has not reached a postmenopausal state (\\>=12 continuous months of amenorrhea with no identified cause other than menopause), and has not undergone surgical sterilization (removal of ovaries and\u002For uterus).\n  * Contraceptive methods may include intrauterine devices (IUD), or barrier method, a spermicidal agent should be added as a double barrier protection; abstinence is also acceptable.\n  * Cases of pregnancy that occur during maternal exposures to abemaciclib should be reported. If a participant or spouse\u002Fpartner is determined to be pregnant following abemaciclib initiation she must discontinue treatment immediately. Data on fetal outcomes and breastfeeding are to be collected for regulatory reporting and drug safety evaluation.\n* Phase 0 Participants\n* Presence of \\>= 1 measurable ANF (biopsy confirmed) for which surgical removal would not likely cause significant morbidity and is clinically indicated\n\nNOTES: Definition of ANF. In addition, there will not be a requirement for confirmed CDKN2A\u002FB deletion for study eligibility due to known biopsy sampling error and tumor heterogeneity.\n\n* Age \\>= 18 years old\n* Phase I\u002FII Participants\n* Presence of \\>= 1 measurable ANF (biopsy confirmed) for whom surgical removal could cause significant clinical morbidity OR for which participant is unwilling to undergo surgical resection OR the presence of more than one distinct nodular lesion (DNL) including at least 1 biopsy proven ANF\n\nNOTES: Definition of ANF. In addition, there will not be a requirement for confirmed CDKN2A\u002FB deletion for study eligibility due to known biopsy sampling error and tumor heterogeneity.\n\n* Age \\>= 12 years old (no maximum age) with associated age-related requirements as follows:\n* Age \\>= 12 years old with BSA \\>= 0.71 m2 and able to swallow whole tablets\n* Willingness of participants \\>= 12 years old and \\\u003C18 years old to undergo pretreatment percutaneous biopsy of ANF if deemed feasible with minimal morbidity\n* Willingness of participants \\>= 18 years old to undergo pre-treatment and on-treatment percutaneous biopsy of ANF if deemed feasible with minimal morbidity\n\nNOTE: For participants of all ages with ANF that cannot be safely biopsied with minimal morbidity, biopsy requirement to be performed at NIH Clinical Center will be waived from eligibility criteria. In this case, review of available archival tissue by NIH Pathology will be necessary to confirm diagnosis of ANF, which is mandatory for eligibility.\n\nEXCLUSION CRITERIA:\n\n* Pregnant women, or women who intend to become pregnant during the study, are excluded from this study because of the teratogenic effects of abemaciclib. Because there is an unknown but potential risk for adverse events in nursing infants secondary to treatment of the mother with these agents, breastfeeding should be discontinued if the mother is treated on study.\n* May not have a NF1-related tumor such as optic pathway glioma or malignant peripheral nerve sheath tumor, which requires treatment with chemotherapy or surgery.\n* Serious preexisting medical condition(s) that would preclude participation in this study (for example, interstitial lung disease, severe dyspnea at rest requiring oxygen therapy, history of major surgical resection involving the stomach or small bowel that would preclude adequate absorption, or preexisting Crohn s disease or ulcerative colitis or a preexisting chronic condition resulting in baseline Grade 2 or higher diarrhea).\n* Uncontrolled intercurrent illness including, but not limited to, symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia, active bleeding diatheses or renal transplant, or psychiatric illness\u002Fsocial situations that would limit compliance with study requirements.\n* Personal history of any of the following conditions: syncope of cardiovascular etiology, ventricular arrhythmia of pathological origin (including, but not limited to, ventricular tachycardia and ventricular fibrillation), or sudden cardiac arrest.\n* Active bacterial infection (requiring intravenous \\[IV\\] antibiotics at time of initiating study treatment), fungal infection, or detectable viral infection (such as known human immunodeficiency virus positivity or with known active hepatitis B or C \\[for example, hepatitis B surface antigen positive\\]. Participants with HIV who have adequate CD4 counts and who have no requirement for antiviral therapy will be eligible.\n\nNOTE:Screening is not required for enrollment.\n\n* Participants with interstitial lung disease\n* Requires treatment with strong CYP3A inhibitors or inducers\n* Inability to swallow tablets, since tablets cannot be crushed or broken.\n* Inability to undergo MRI and\u002For contraindication for MRI examinations following the MRI protocol. Prosthesis or orthopedic or dental braces that would interfere with volumetric analysis of target ANF on MRI.\n* Refractory nausea and vomiting that would limit drug administration in the opinion of the Principal Investigator\n* Known severe hypersensitivity to abemaciclib or any excipient of abemaciclib or history of allergic reactions attributed to compounds of similar chemical or biologic composition to abemaciclib\n* Clinical judgment by the investigator that the participant should not participate in the study","ALL","12 Years",{"count":19,"type":20},55,"ESTIMATED","INTERVENTIONAL",[23,24],"PHASE1","PHASE2","Background:\n\nNF1 is a genetic disease that causes tumors called atypical neurofibromas. These tumors, which arise from nerves, can cause serious medical problems. The only treatment is surgery. Researchers want to see if a drug called abemaciclib can help.\n\nObjective:\n\nTo find a safe, tolerable dose of abemaciclib for treating atypical neurofibromas.\n\nEligibility:\n\nPeople ages 12 and older who have NF1 and have one or more atypical neurofibromas that cannot or will not be removed with surgery\n\nDesign:\n\nParticipants will be screened with:\n\nMedical history and physical exam\n\nBlood, urine, and heart tests\n\nMRI: Participants will lie in a machine that takes pictures of the body. A padding or coil will be placed around their head. They may have a contrast agent injected into a vein.\n\nBiopsy sample: A small piece of tumor will be removed using a large needle.\n\nParticipants will have frequent visits during the study. These will include repeats of the screening tests as well as the following:\n\nPET scan: Participants will lie in a machine that takes pictures of the body. They will have a contrast agent injected into their arm.\n\nQuestionnaires about the effects of abemaciclib on pain and quality of life\n\nPossible photographs of tumors\n\nParticipants will take abemaciclib capsules orally twice daily in 28-day cycles. They will take the drug for up to 2 years. Some may be able to take it for longer.\n\nParticipants will have a follow-up visit about 30 days after their last dose of the study drug. Then they will have visits every 3 months for 1 year.",[27],"Neurofibromatosis 1",[29,30,31],"Kinase Inhibitor","distinct nodular lesion","genomic alteration","RECRUITING","2026-07-01",{"date":35,"type":36},"2026-07-02","ACTUAL",{"date":38,"type":36},"2021-11-29",{"date":40,"type":20},"2029-12-31",{"name":42,"class":43},"National Cancer Institute (NCI)","NIH",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":52,"enrollmentInfo":53,"targetDuration":4,"studyType":55,"phases":4,"briefSummary":56,"conditions":57,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":69},"100543787","real-world-treatment-study-of-koselugo-selumetinib-100543787","NCT06360406","Real-World Treatment Study of Koselugo (Selumetinib)","Inclusion Criteria:\n\n1. Patients treated with Koselugo (Selumetinib) under the approved label in South Korea\n2. Provision of signed and dated written informed consent by the patient or legally acceptable representative\n\nExclusion Criteria:\n\n1. Patients treated with Koselugo (Selumetinib) under the approved label in South Korea\n2. Provision of signed and dated written informed consent by the patient or legally acceptable representative","3 Years","99 Years",{"count":54,"type":20},200,"OBSERVATIONAL","As part of a post-approval commitment, the Korean health authority requests a study to characterize safety and effectiveness in patients treated with Koselugo (Selumetinib), an oral selective inhibitor of MAPK kinase (MEK) 1 and 2, by physicians in routine clinical practice settings. This study is designed to assess the known safety profile or identify previously unsuspected adverse reactions and evaluate the effectiveness of Koselugo under conditions of routine daily medical practice in Korea.\n\nThis study will provide information on the Korean patient population that is treated with the study drug.",[27,58],"Neurofibroma, Plexiform","2026-06-26",{"date":61,"type":36},"2026-06-29",{"date":63,"type":36},"2024-06-15",{"date":65,"type":20},"2031-09-30",{"name":67,"class":68},"AstraZeneca","INDUSTRY",12,{"id":71,"slug":72,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":74,"acronym":4,"eligibilityCriteria":75,"healthyVolunteers":76,"sex":16,"minAge":77,"maxAge":4,"enrollmentInfo":78,"targetDuration":4,"studyType":55,"phases":4,"briefSummary":80,"conditions":81,"keywords":83,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":89,"lastUpdatePostDateStruct":90,"startDateStruct":92,"completionDateStruct":94,"leadSponsor":96,"locationsCount":97},"100250838","development-and-validation-of-patient-reported-outcome-pro-measures-for-individuals-with-neurofibromatosis-1-nf1-and-plexiform-neurofibromas-pnfs-100250838","NCT02544022","Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)","* SUBJECT INCLUSION CRITERIA:\n* Documented NF1 either by NIH clinical criteria or molecularly-proven mutation in the\n\nNF1 gene, PER the Neurofibromatosis Diagnostic Criteria AND \\>=1 plexiform neurofibroma in any location that is either symptomatic or asymptomatic, and is defined by the following:\n\n1. a neurofibroma that has grown along the length of a nerve and may involve multiple fascicles and branches OR a spinal neurofibroma that involves two or more levels with connection between the levels or extending laterally along the nerve OR a skin thickness neurofibroma;\n2. measures \\>=3 cm on longest diameter by visual exam, palpation or 2D MR imaging OR \\>=3 mL by volumetric MR imaging.\n\n   * For phase 1, Age \\>=5 years. (complete)\n   * For phase 2, Age \\>= 8 years\n   * Ability of subject or parent or guardian to understand and the willingness to sign a written informed consent document.\n   * Participants must be able to understand, read, and speak the English language.\n   * For phase 1 focus groups only, patients need to report experiencing pNF related pain recently with a minimum pain level of 3 on the current NRS-11 or report taking prescription medication that reduces pain and experiencing pNF related pain recently with a minimum pain level of 1 on the current NRS-11. (complete)\n   * For phase 2 patients with pain, patients need to report recently experiencing at least a minimal amount of pNF-related pain. Specifically, they will be asked if they recently experienced any pain in a target tumor area and will have to respond yes to be eligible.\n   * For phase 2 patients without pain, patients need to report no recent pNF-related pain. Specifically, they will be asked if they recently experienced any pain in a target tumor area and will have to respond no to be eligible.\n\nPRIMARY CAREGIVER INCLUSION CRITERIA:\n\n* Primary caregiver (i.e. parent,guardian, grandparent) who is \\>= 18 years old of participating subject \\\u003C= 17 years old\n* Participants must be able to understand, read, and speak the English language\n\nEXCLUSION CRITERIA:\n\n* Patients with severe cognitive or behavior impairments who, in the judgment of the investigators, would not be able to cooperate with the study procedures will be excluded.\n* Patients cannot be newly enrolled on a clinical trial to treat their pNF or cannot have started a new pain treatment regimen (e.g., medication, psychosocial therapy, physical therapy, etc.) at the time of enrollment. Specifically, patients will be ineligible if they were enrolled on a MEK inhibitor trial in the past 12 months or began a new pain\n\nmedication or treatment within the past 3 months prior to enrollment on this study.",true,"5 Years",{"count":79,"type":20},476,"Background:\n\nPeople with neurofibromatosis 1 (NF1) who have plexiform neurofibromas (pNFs) can have pain that affects their daily lives. This study aims to improve questionnaires that measure their pain, daily living, and physical functioning.\n\nObjectives:\n\nTo examine and improve questionnaires about daily living for people with NF1 and pNFs.\n\nEligibility:\n\nPeople ages 5 and older with NF1 and a pNF\n\nDesign:\n\nParticipants will be screened with medical history.\n\nThis study will have 2 phases.\n\nPhase 1 participants will talk about existing pain assessment questionnaires and how pNFs affect their life. They will have group discussions of up to 8 people of a similar age with NF1 and pNFs, or the parents of children with it. These will last about 90 minutes. Children ages 5 to 7 and their parents will have one-on-one meetings instead. These will last about 45 minutes. Discussions will be audiotaped. After the questionnaires have been changed, individual interviews will discuss the new wording, instructions, questions, and electronic format of the new forms.\n\nPhase 2 is now complete.\n\nPhase 1 participants may be invited to Phase 2.\n\nPhase 2 participants will complete the new questionnaires. These may be pen-and-paper or electronic. The questionnaires will take about 30 minutes for adults and teens. Children will work one-on-one with a staff member and may need up to 45 minutes. A small group of participants will be complete the forms twice-in clinic and 1 month later at home. Also, a small group who start a new pain treatment or have a dose increase in their treatment will complete the forms twice-before the treatment change and 1 month later.",[27,82],"Plexiform Neurofibromas",[84,85,86,87,88],"Pain Scale","QOL","Tool Validation","Cognitive Interviews","Natural History","2026-06-17",{"date":91,"type":36},"2026-06-18",{"date":93,"type":36},"2015-11-13",{"date":95,"type":20},"2026-12-31",{"name":42,"class":43},6,{"id":99,"slug":100,"hasResults":11,"nctId":101,"briefTitle":102,"officialTitle":102,"acronym":4,"eligibilityCriteria":103,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":104,"enrollmentInfo":105,"targetDuration":4,"studyType":55,"phases":4,"briefSummary":107,"conditions":108,"keywords":110,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":117,"lastUpdatePostDateStruct":118,"startDateStruct":120,"completionDateStruct":122,"leadSponsor":124,"locationsCount":44},"100533160","surveillance-for-malignant-transformation-of-neurofibromatosis-type-1-nf1-related-peripheral-nerve-sheath-tumors-pnst-100533160","NCT06222203","Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)","* INCLUSION CRITERIA:\n\nHigh-Risk and Low-Risk NF1 Cohorts\n\n* Age \\>= 3 years old\n* Participants with clinical or genetic diagnosis of NF1.\n* Participants with a diagnosis of mosaic or segmental NF1 are also eligible.\n* Individuals may have (High-Risk Cohort) or not have (Low-Risk Cohort) at least one of the following characteristics:\n\n  * Microdeletion or 844-848 missense variants or other variants associated with increased risk of malignant peripheral nervous sheath tumor (MPNST)\n  * Family history of MPNST \u002F atypical neurofibromatous neoplasm of unknown biologic potential (ANNUBP) \u002F atypical neurofibromas (ANF)\n  * Personal history of MPNST\u002FANNUBP\u002FANF or neurofibroma with CDKN2A loss\n  * Prior radiation therapy at any site\n  * Large plexiform neurofibroma (PN) burden (\\>= 350 mL)\n  * Presence \\>= 1 DNL at baseline\n* The ability of the individual, parent\u002Fguardian or Legally Authorized Representative (LAR) to understand and the willingness to sign a written consent document for participation.\n\nEXCLUSION CRITERIA:\n\nHigh-Risk and Low-Risk NF1 Cohorts\n\n\\- Inability or unwillingness to undergo MRI imaging\n\nINCLUSION CRITERIA:\n\nParent Cohort\n\n* Parent or guardian of pediatric individuals (8-17 years old) in High-Risk or Low-Risk Cohorts.\n* The ability of the parent\u002Fguardian or LAR to understand and the willingness to sign a written consent document for parent\u002Fguardian participation in this study.\n\nEXCLUSION CRITERIA:\n\nParent Cohort\n\n\\- None.","120 Years",{"count":106,"type":20},225,"Background:\n\nNeurofibromatosis type 1 (NF1) is a genetic disease that can cause many symptoms. About half of people with NF1 will develop benign (noncancerous) tumors along nerves in the skin, brain, and other parts of the body. Sometimes, though, these tumors can become cancerous. Researchers do not yet know how to predict which tumors will become cancerous.\n\nObjective:\n\nTo test a new method for predicting which benign NF1 tumors will become cancerous.\n\nEligibility:\n\nPeople aged 3 years and older with a clinical or genetic diagnosis of NF1.\n\nDesign:\n\n* Participants will be screened with a review of their medical history. All participants will have a baseline visit. They will have bood tests and imaging scans. They will have a physical exam. They will answer questions about their family history. Participants aged 8 years and older will take tests of their thinking skills and their emotional health.\n* Some participants may be asked to undergo more tests. These may include another type of imaging scan and a biopsy: A small sample of tissue may be removed from the tumor.\n* Participants will be divided into two groups: those believed to be at low risk and those believed to be at high risk of developing cancer.\n* Participants in the high-risk group will be asked to return for their next visit in 1 month to 3 years.\n* Participants in the low-risk group will be asked to return for their next visit in 6 months to 5 years.\n* Participants may also have follow-up visits by phone throughout the study. They will be in the study for 10 years.",[27,109],"Nerve Sheath Neoplasms",[111,112,82,113,114,115,116,30],"NF1","atypical neurofibromas","neurofibromas","PN","MPNST","malignant transformation","2026-06-03",{"date":119,"type":36},"2026-06-04",{"date":121,"type":36},"2024-10-09",{"date":123,"type":20},"2035-12-31",{"name":42,"class":43},{"id":126,"slug":127,"hasResults":11,"nctId":128,"briefTitle":129,"officialTitle":130,"acronym":131,"eligibilityCriteria":132,"healthyVolunteers":11,"sex":16,"minAge":133,"maxAge":134,"enrollmentInfo":135,"targetDuration":4,"studyType":21,"phases":136,"briefSummary":137,"conditions":138,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":140,"lastUpdatePostDateStruct":141,"startDateStruct":143,"completionDateStruct":145,"leadSponsor":147,"locationsCount":150},"100530589","phase-2-selumetinib-for-the-prevention-of-plexiform-neurofibroma-growth-in-nf-type-1-100530589","NCT06188741","Selumetinib for the Prevention of Plexiform Neurofibroma Growth in NF Type 1","Phase 2 Trial of Selumetinib for the Prevention of Plexiform Neurofibroma Growth and Morbidity in Neurofibromatosis Type 1","NF114","PART 1:\n\nInclusion Criteria:\n\n1. Age: \\> 1 (\\>12 months) and ≤8 years of age at the time of study enrollment.\n2. Diagnosis: Participants with a diagnosis of NF1 based on the 2021 revised consensus criteria \\[52\\] and\n3. No known PN (prior to enrollment on Part 1). Participants for whom there is clinical suspicion for a PN (e.g., subtle facial asymmetry or large overlying hyperpigmented area) may be included in the study after discussion with the Study Chair so long as they have not previously had an MRI of the region of concern and are otherwise asymptomatic.\n4. Physical exam at your institution within 1 year prior to consent.\n5. Written informed consent must be obtained from the legal guardians of all participants \\\u003C18 years of age.\n\nExclusion Criteria:\n\n1. Presence of a known, symptomatic PN with or without previous MRI imaging.\n2. Patients who have had previous whole-body MRI (WBMRI) are excluded from the study. However, patients who have had regional MRI(s) for an indication other than a PN and did not have a PN identified on previous MRI may still be eligible for the study.\n3. Inability to undergo MRI and\u002For contraindication for MRI examinations following the MRI protocol.\n4. Prior treatment with selumetinib or another specific MEK1\u002F2 inhibitor.\n5. Evidence of an optic pathway or other low-grade glioma, high grade glioma, malignant peripheral nerve sheath tumor, or other cancer\u002Ftumor requiring treatment with chemotherapy, biologic therapy or radiation therapy.\n6. Ongoing radiation therapy, chemotherapy, hormonal therapy directed at a tumor, immunotherapy, or biologic therapy.\n7. Clinical judgement by the investigator that the patient should not participate in the study.\n\nPART 2:\n\nInclusion Criteria:\n\n1. Enrolled on Part 1 of this study and completed baseline WBMRI within 6 weeks of planned enrollment on Part 2.\n2. A measurable (≥3 mL) PN in a high-risk location as defined below (this must be confirmed by Study Chair or a member of the Study Committee prior to enrollment on Part 2).\n\n   * In the head or neck (with the exception of isolated scalp lesions) OR\n   * Within the brachial or lumbosacral plexus OR\n   * Adjacent to high-risk structure(s), defined as:\n\n     1. Major (\"named\") blood vessel OR\n     2. Major (\"named\") airway OR\n     3. Hollow viscus OR\n     4. Spinal cord and foramina OR\n     5. Vital Organs (including heart, lungs, liver, spleen, etc.)\n3. Body Surface Area (BSA): BSA ≥ 0.55 m2 \\[pending availability of granule formulation\\].\n4. Performance status: Lansky performance ≥70%. Participants who are wheelchair bound because of paralysis or immobility secondary to a non-PN related manifestation of NF1 (such as tibial pseudarthrosis or severe scoliosis) should be considered ambulatory when they are in their wheelchair.\n5. Able to swallow whole capsules \\[Pending availability of granule formulation\\].\n6. Hematologic Function: Absolute neutrophil count ≥1200\u002FµL, hemoglobin ≥9g\u002FdL, and platelets ≥100,000\u002FµL (without transfusions).\n7. Hepatic Function: Bilirubin within 1.5 x the upper limit of normal for age, with the exception of those with Gilbert syndrome, and AST\u002FALT within ≤ 3 x upper limit of normal.\n8. Renal Function: Creatinine clearance or radioisotope GFR ≥60ml\u002Fmin\u002F1.73 m2 or a normal serum creatinine based on age, described in the table below.\n\n   Age (years) Maximum Serum Creatinine (mg\u002FdL)\n\n   ≤5 0.8 \\>5 to ≤10 1.0 \\>10 to ≤15 1.2 \\>15 1.5\n9. Cardiac Function:\n\n   1. Normal ejection fraction (ECHO or cardiac MRI) ≥ 53% (or the institutional normal; if a range is given then the upper value of the range will be used).\n   2. EKG with QTC or QTcF ≤450 msec.\n10. Adequate Blood Pressure defined as:\n\n    A blood pressure (BP) ≤ the 95th percentile for age, height, and gender. Adequate blood pressure can be achieved using medication for treatment of hypertension. Participants must be on stable antihypertensive regimen for at least 30 days prior to study entry.\n11. Willingness to avoid excessive sun exposure and use adequate sunscreen protection if sun exposure is anticipated.\n12. Willingness to avoid the ingestion of grapefruit and Seville oranges (as well as other products containing these fruits, e.g., grapefruit juice or marmalade) during the study, as these may affect selumetinib metabolism.\n\nExclusion Criteria:\n\n1. Evidence of an optic pathway or other low-grade glioma, high-grade glioma, malignant peripheral nerve sheath tumor, or other cancer\u002Ftumor requiring treatment with chemotherapy, biologic therapy or radiation therapy.\n2. Ongoing radiation therapy, chemotherapy, hormonal therapy, immunotherapy, or biologic therapy directed at a tumor.\n3. Prosthesis, orthopedic implant, or dental braces that would interfere with volumetric analysis of target PN on MRI.\n4. Use of an investigational agent within the past 30 days.\n5. Any evidence of severe or uncontrolled systemic disease, active infection, active bleeding diatheses, or renal transplant, including any patient known to have hepatitis B, hepatitis C, or human immunodeficiency virus (HIV) will be excluded.\n6. Participants who, in the opinion of the investigator, may not be able to comply with the safety monitoring requirements of the study.\n7. Refractory nausea and vomiting, chronic gastrointestinal diseases (e.g., inflammatory bowel disease), or significant bowel resection that would preclude adequate absorption.\n8. Supplementation with vitamin E greater than 100% of the daily recommended dose. Any multivitamin containing vitamin E must be stopped prior to initiation of therapy.\n9. Participants not achieving adequate blood pressure despite antihypertensive therapy for control of blood pressure.\n10. Cardiac conditions:\n\n    1. Known inherited coronary disease\n    2. Symptomatic heart failure (NYHA Class II-IV prior or current cardiomyopathy, or severe valvular heart disease)\n    3. Prior or current cardiomyopathy\n    4. Severe valvular heart disease\n    5. History of atrial fibrillation\n11. Ophthalmologic conditions:\n\n    1. Current or past history of central serous retinopathy or retinal pigment epithelial detachment (RPED).\n    2. Current or past history of retinal vein occlusion.\n    3. History of radiation therapy that included the orbit in the field of treatment.\n    4. Known intraocular pressure (IOP) \\> 21 mmHg (or ULN adjusted by age) or uncontrolled glaucoma (irrespective of IOP). Participants with known glaucoma and increased IOP who do not have meaningful vision (light perception only or no light perception) and are not experiencing pain related to the glaucoma, may be eligible after discussion with the Study Chair.\n    5. Participants with any other significant abnormality on ophthalmic examination should be discussed with the Study Chair for potential eligibility.\n    6. Ophthalmological findings secondary to long-standing optic pathway glioma (such as visual loss, optic nerve pallor or strabismus) will NOT be considered a significant abnormality for the purposes of the study.\n12. Known severe hypersensitivity to selumetinib or any excipient of selumetinib or history of allergic reactions attributed to compounds of similar chemical or biologic composition to selumetinib.\n13. Recent major surgery within a minimum of 4 weeks prior to starting study treatment.\n14. Any unresolved chronic toxicity with CTCAE grade ≥ 2 from previous therapy, except for alopecia.\n15. Receiving herbal supplements or medications known to be strong or moderate inhibitors or inducers of the cytochrome P450 (CYP)2C19 and CYP3A4 enzymes or fluconazole unless such products can be safely discontinued at least 14 days or 5 half-lives (whichever is longer) before the first dose of study medication.\n\nPART 3:\n\nInclusion Criteria:\n\n1. Enrolled on Part 2 of this study and had PN growth \\>20% OR development of PN related symptom(s) while on observation portion of Part 2 (including the first 2 years for the observation arm OR during first year of observation after treatment with selumetinib).\n2. Body Surface Area (BSA): BSA ≥ 0.55 m2 \\[pending availability of granule formulation\\].\n3. Performance status: Lansky performance ≥70%. Participants who are wheelchair bound because of paralysis or immobility secondary to a non-PN related manifestation of NF1 (such as tibial pseudarthrosis or severe scoliosis) should be considered ambulatory when they are in their wheelchair.\n4. Able to swallow whole capsules \\[Pending availability of granule formulation\\].\n5. Hematologic Function: Absolute neutrophil count ≥1200\u002FµL, hemoglobin ≥9g\u002FdL, and platelets ≥100,000\u002FµL (without transfusions).\n6. Hepatic Function: Bilirubin within 1.5 x the upper limit of normal for age, with the exception of those with Gilbert syndrome, and AST\u002FALT within ≤ 3 x upper limit of normal.\n7. Renal Function: Creatinine clearance or radioisotope GFR ≥60mL\u002Fmin\u002F1.73 m2 or a normal serum creatinine based on age, described in the table below.\n\n   Age (years) Maximum Serum Creatinine (mg\u002FdL)\n\n   ≤5 0.8 \\>5 to ≤10 1.0 \\>10 to ≤15 1.2 \\>15 1.5\n8. Cardiac Function:\n\n   1. Normal ejection fraction (ECHO or cardiac MRI) ≥ 53% (or the institutional normal; if a range is given then the upper value of the range will be used).\n   2. EKG with QTC or QTcF ≤450 msec.\n9. Adequate Blood Pressure defined as:\n\n   A blood pressure (BP) ≤ the 95th percentile for age, height, and gender. Adequate blood pressure can be achieved using medication for treatment of hypertension. Participants must be on stable antihypertensive regimen for at least 30 days prior to study entry.\n10. Willingness to avoid excessive sun exposure and use adequate sunscreen protection if sun exposure is anticipated.\n11. Willingness to avoid the ingestion of grapefruit and Seville oranges (as well as other products containing these fruits, e.g., grapefruit juice or marmalade) during the study, as these may affect selumetinib metabolism.\n\nExclusion Criteria:\n\n1. Evidence of an optic pathway or other low-grade glioma, high-grade glioma, malignant peripheral nerve sheath tumor, or other cancer\u002Ftumor requiring treatment with chemotherapy, biologic therapy or radiation therapy.\n2. Ongoing radiation therapy, chemotherapy, hormonal therapy, immunotherapy, or biologic therapy directed at a tumor.\n3. Prosthesis, orthopedic implant, or dental braces that would interfere with volumetric analysis of target PN on MRI.\n4. Any evidence of severe or uncontrolled systemic disease, active infection, active bleeding diatheses, or renal transplant, including any patient known to have hepatitis B, hepatitis C, or human immunodeficiency virus (HIV) will be excluded.\n5. Participants who, in the opinion of the investigator, may not be able to comply with the safety monitoring requirements of the study.\n6. Refractory nausea and vomiting, chronic gastrointestinal diseases (e.g., inflammatory bowel disease), or significant bowel resection that would preclude adequate absorption.\n7. Supplementation with vitamin E greater than 100% of the daily recommended dose. Any multivitamin containing vitamin E must be stopped prior to initiation of therapy.\n8. Participants not achieving adequate blood pressure despite antihypertensive therapy for control of blood pressure.\n9. Cardiac conditions:\n\n   1. Known inherited coronary disease\n   2. Symptomatic heart failure (NYHA Class II-IV prior or current cardiomyopathy, or severe valvular heart disease)\n   3. Prior or current cardiomyopathy\n   4. Severe valvular heart disease\n   5. History of atrial fibrillation\n10. Ophthalmologic conditions:\n\n    1. Current or past history of central serous retinopathy or retinal pigment epithelial detachment (RPED).\n    2. Current or past history of retinal vein occlusion.\n    3. History of radiation therapy that included the orbit in the field of treatment.\n    4. Known intraocular pressure (IOP) \\> 21 mmHg (or ULN adjusted by age) or uncontrolled glaucoma (irrespective of IOP). Participants with known glaucoma and increased IOP who do not have meaningful vision (light perception only or no light perception) and are not experiencing pain related to the glaucoma, may be eligible after discussion with the study chair.\n    5. Participants with any other significant abnormality on ophthalmic examination should be discussed with the Study Chair for potential eligibility.\n    6. Ophthalmological findings secondary to long-standing optic pathway glioma (such as visual loss, optic nerve pallor or strabismus) will NOT be considered a significant abnormality for the purposes of the study.\n11. Known severe hypersensitivity to selumetinib or any excipient of selumetinib or history of allergic reactions attributed to compounds of similar chemical or biologic composition to selumetinib.\n12. Recent major surgery within a minimum of 4 weeks prior to starting study treatment.\n13. Any unresolved chronic toxicity with CTC AE grade ≥ 2 from previous therapy, except for alopecia.\n14. Receiving herbal supplements or medications known to be strong or moderate inhibitors or inducers of the cytochrome P450 (CYP)2C19 and CYP3A4 enzymes or fluconazole unless such products can be safely discontinued at least 14 days or 5 half-lives (whichever is longer) before the first dose of study medication.","1 Year","8 Years",{"count":54,"type":20},[24],"Plexiform neurofibromas (PN) are known to cause significant morbidity in children with NF1. The recent FDA approval for selumetinib in children 2 years and older with inoperable symptomatic PN was based on the finding that selumetinib shrinks the majority of PN in children with NF1 and results in clinically meaningful benefit such as improvement in pain or range of motion. However, many morbidities, such as blindness or nerve damage, cannot be fully reversed with PN shrinkage. Therefore, there remains a critical need in this patient population to determine if young participants with PN in high-risk locations may benefit from early medical intervention prior to the development of clinical problems. This study will determine whether participants with asymptomatic PN in high-risk locations can potentially benefit from early treatment with selumetinib.",[27,139],"Plexiform Neurofibroma","2026-05-26",{"date":142,"type":36},"2026-05-29",{"date":144,"type":36},"2025-08-27",{"date":146,"type":20},"2032-09-01",{"name":148,"class":149},"University of Alabama at Birmingham","OTHER",15,{"id":152,"slug":153,"hasResults":11,"nctId":154,"briefTitle":155,"officialTitle":156,"acronym":4,"eligibilityCriteria":157,"healthyVolunteers":11,"sex":16,"minAge":158,"maxAge":159,"enrollmentInfo":160,"targetDuration":4,"studyType":21,"phases":162,"briefSummary":163,"conditions":164,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":169,"lastUpdatePostDateStruct":170,"startDateStruct":172,"completionDateStruct":174,"leadSponsor":176,"locationsCount":178},"100504540","phase-1-a-phase-iii-study-of-trametinib-and-azacitidine-for-patients-with-newly-diagnosed-juvenile-myelomonocytic-leukemia-100504540","NCT05849662","A Phase I\u002FII Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia","Risk Stratified Treatment for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia: A Phase I\u002FII Non-randomized Study of Trametinib and Azacitidine With or Without Chemotherapy (IND #164058)","Inclusion Criteria:\n\nAge\n\n• Patients must be ≥ 1 month and ≤21 years of age at enrollment.\n\nDiagnosis • Patients must meet the 2022 International Consensus Classification criteria for JMML. The diagnosis is made based on the following criteria:.\n\nClinical and hematologic features (the first 2 features are present in most cases; the last 2 are required):\n\n* Peripheral blood monocyte count ≥ 1 × 109\u002FL\\*\n* Splenomegaly†\n* Blast percentage in PB and BM \\\u003C 20%\n* Absence of BCR::ABL1\n\n  * This monocyte threshold is not reached in approximately 7% of cases. †Splenomegaly is absent in 3% of cases at presentation.\n\nII. Genetic studies (1 finding required):\n\n* Somatic mutation in PTPN11‡ or KRAS‡ or NRAS‡ or RRAS or RRAS2‡\n* Clinical diagnosis of neurofibromatosis type 1 or germline NF1 mutation and loss of heterozygosity of NF1 or somatic biallelic loss of NF1\n* Germline CBL mutation and loss of heterozygosity of CBL, or somatic mutation(s) in CBL§\n\n  * Germline mutations (indicating Noonan syndrome) need to be excluded. §Occasional cases with heterozygous splice site mutations.\n\nPerformance Level\n\n* Karnofsky \\> 50% for patients ≥ 16 years of age\n* Lansky \\> 50% for patients \\\u003C 16 years of age.\n\nPrior Therapy\n\n* No prior leukemia directed therapy is permitted with the exception of:\n\n  1. Cytoreduction with hydroxyurea can be initiated and continued for up to 24 hours prior to the start of trametinib.\n  2. Cytoreduction with 6-mercaptopurine (6-MP) 6-MP can be initiated and continued for up to 72 hours prior to the start of trametinib.\n  3. Intrathecal (IT) cytarabine, IT methotrexate or triple IT therapy (cytarabine, methotrexate and hydrocortisone) within 7 days of enrollment as part of a diagnostic evaluation.\n\n     No prior hematopoietic stem cell transplant is permitted.\n\n     Adequate Renal Function Defined as:\n* Patient must have a calculated creatinine clearance or radioisotope GFR ≥ 70ml\u002Fmin\u002F1.73m2 OR a normal serum creatinine based on age\u002Fgender in the chart below:\n\nMaximum Serum Creatinine (mg\u002FdL):\n\n* 1 month to \\\u003C 6 months old - Male: 0.4, Female 0.4\n* 6 months to \\\u003C1 year old - Male 0.5, Female 0.5\n* 1 to \\\u003C 2 years old - Male: 0.6, Female: 0.6\n* 2 to \\\u003C 6 years old - Male:0.8, Female: 0.8\n* 6 to \\\u003C 10 years old - Male: 1, Female: 1\n* 10 to \\\u003C 13 years old - Male: 1.2, Female: 1.2\n* 13 to \\\u003C 16 years old - Male: 1.5, Female: 1.4\n* ≥ 16 years old - Male: 1.7, Female: 1.4 The threshold creatinine values in this Table were derived from the Schwartz formula for estimating GFR (Schwartz et al. J. Peds, 106:522, 1985) utilizing child length and stature data published by the CDC.\n\nAdequate Liver Function Defined as:\n\n* Direct bilirubin \\\u003C 1.5 x upper limit of normal (ULN) for age or normal, AND alanine transaminase (ALT) \\\u003C 5 x ULN for age.\n* The hepatic requirements are waived for patients with known or suspected liver involvement by leukemia and will not be evaluable for hepatotoxicity. This must be reviewed and approved by the study chair or vice chair.\n\nAdequate Cardiac Function Defined as:\n\n* Ejection fraction of \\> or = to 50% by echocardiogram, OR\n* Ejection fraction of \\> or = to 50% by radionuclide angiogram (MUGA).\n\nReproductive Function\n\n* Female patients of childbearing potential must have a negative urine or serum pregnancy test confirmed within 2 weeks prior to enrollment.\n* Female patients with infants must agree not to breastfeed their infants while on this study.\n* Male and female patients of child-bearing potential must agree to use an effective method of contraception approved by the investigator during the study and for a minimum of 6 months after study treatment.\n\nExclusion Criteria:\n\n* Patients cannot have a known allergy to any of the drugs used in the study.\n* Patients cannot have a systemic fungal, bacterial, viral, or other infection that is exhibiting ongoing signs\u002Fsymptoms related to the infection without improvement despite appropriate antibiotics or other treatment. The patient needs to be off pressors and have negative blood cultures for 48 hours.\n* Patients cannot have a plan to administer non-protocol chemotherapy, radiation therapy, or immunotherapy during the study period.\n* Patients cannot have significant concurrent disease, illness, psychiatric disorder or social issue that would compromise patient safety or compliance with the protocol treatment or procedures, interfere with consent, study participation, follow up, or interpretation of study results.\n* Patients cannot have a clinical or molecular diagnosis of Noonan syndrome. Note: patients with either neurofibromatosis type 1 or Casitas B-lineage lymphoma (CBL) syndrome (also known as Noonan-like syndrome), are eligible to enroll. Patients with Down syndrome are excluded from the study.\n* Patient cannot have had prior use of hematopoietic growth factors, biologics (anti-neoplastic agent), or XRT.\n* Patients cannot be taking any medications for treatment of left ventricular systolic dysfunction.\n* Patients cannot have a history of or current evidence of retinal vein occlusion (RVO) or central serous retinopathy (CSR).\n* Patients cannot have had prior use of any MEK inhibitor.","1 Month","21 Years",{"count":161,"type":20},58,[23,24],"This clinical trial will test the safety and efficacy of combining trametinib and azacitidine in patients with juvenile myelomonocytic leukemia (JMML). Newly diagnosed lower-risk JMML patients will receive trametinib and azacitidine. High-risk JMML patients will receive trametinib, azacitidine, fludarabine, and cytarabine.",[165,166,167,27,168],"Leukemia, Juvenile Myelomonocytic","JMML","JCML","CBL Syndrome","2026-04-10",{"date":171,"type":36},"2026-04-15",{"date":173,"type":36},"2024-10-11",{"date":175,"type":20},"2029-12",{"name":177,"class":149},"Therapeutic Advances in Childhood Leukemia Consortium",19,{"id":180,"slug":181,"hasResults":11,"nctId":182,"briefTitle":183,"officialTitle":184,"acronym":4,"eligibilityCriteria":185,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":186,"enrollmentInfo":187,"targetDuration":4,"studyType":21,"phases":189,"briefSummary":190,"conditions":191,"keywords":215,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":228,"lastUpdatePostDateStruct":229,"startDateStruct":231,"completionDateStruct":233,"leadSponsor":235,"locationsCount":44},"100495785","phase-2-mt2021-08t-cell-receptor-alphabeta-depletion-pbsc-transplantation-for-heme-malignancies-100495785","NCT05735717","MT2021-08T Cell Receptor Alpha\u002FBeta Depletion PBSC Transplantation for Heme Malignancies","Phase II, Open-Label, Prospective Study of T Cell Receptor Alpha\u002FBeta Depletion (A\u002FB TCD) Peripheral Blood Stem Cell (PBSC) Transplantation for Children and Adults With Hematological Malignancies","Inclusion Criteria:\n\n* Histological confirmation of hematological malignancies\n* Acute leukemias\n* Acute Myeloid Leukemia (AML) and related precursor neoplasms\n* Favorable risk AML is defined as having one of the following:\n* Acute lymphoblastic leukemia (ALL)\u002Flymphoma\n* Myelodysplasia (MDS) IPSS INT-2 or High Risk (i.e. RAEB, RAEBt) or Refractory Anemia with severe pancytopenia, transfusion dependence, or high risk cytogenetics or molecular features.\n* Age 60 years of age or younger at the time of consent\n* Karnofsky performance status ≥ 70% or Lansky play score 50% for ≤16 years of age.\n* Adequate organ function\n\nExclusion Criteria:\n\n* Pregnant or breastfeeding.\n* Active uncontrolled infection within 1 week of starting preparative therapy\n* Known seropositive for HIV or known active Hepatitis B or C infection with detectable viral load by PCR.\n* Any prior autologous or allogeneic transplant\n* CML blast crisis\n* Active central nervous system malignancy","60 Years",{"count":188,"type":20},70,[24],"This is a phase II, open-label, prospective study of T cell receptor alpha\u002Fbeta depletion (TCR α\u002Fβ TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies. This is a safety\u002Ffeasibility study of the investigational procedure\u002Fproduct.",[192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,27,208,209,210,211,212,213,214],"Hematologic Malignancy","Acute Leukemia","Remission","Acute Myeloid Leukemia","Acute Lymphoblastic Leukemia","AML","TP53","Intrachromosomal Amplification of Chromosome 21","Cytogenetic Abnormality","CNS Leukemia","Minimal Residual Disease","Myelodysplasia","Juvenile Myelomonocytic Leukemia","Somatic Mutation","PTPN11 Gene Mutation","N-RAS Gene Amplification","NF1 Mutation","CBL Gene Mutation","Monosomy 7","Chromosome Abnormality","Fetal Hemoglobin","Lymphoblastic Lymphoma","High Grade Non-Hodgkin's Lymphoma, Adult",[216,217,218,219,220,221,222,223,224,225,226,227],"Bu","Flu","G-CSF","GFSR","aGVHD","HCT","MAC","Mel","PBSCT","PTLD","RECIST","TCR","2026-03-31",{"date":230,"type":36},"2026-04-06",{"date":232,"type":36},"2023-05-11",{"date":234,"type":20},"2030-11-30",{"name":236,"class":149},"Masonic Cancer Center, University of Minnesota",{"id":238,"slug":239,"hasResults":11,"nctId":240,"briefTitle":241,"officialTitle":242,"acronym":243,"eligibilityCriteria":244,"healthyVolunteers":11,"sex":16,"minAge":245,"maxAge":4,"enrollmentInfo":246,"targetDuration":4,"studyType":21,"phases":248,"briefSummary":249,"conditions":250,"keywords":251,"overallStatus":254,"whyStopped":4,"lastUpdateSubmitDate":255,"lastUpdatePostDateStruct":256,"startDateStruct":258,"completionDateStruct":260,"leadSponsor":262,"locationsCount":44},"100554675","phase-1-study-of-cabozantinib-with-selumetinib-for-plexiform-neurofibromas-100554675","NCT06502171","Study of Cabozantinib With Selumetinib for Plexiform Neurofibromas","A Phase 1\u002F1b\u002F2 Study of Cabozantinib in Combination With Selumetinib for Plexiform Neurofibroma in Adults and Adolescents With Neurofibromatosis Type 1","NF113","1.0 INCLUSION CRITERIA\n\n1.1. All participants must have a diagnosis of NF1 based on the 2021 revised consensus criteria.\n\n1.2. Participants must have PN(s) that are progressive OR are causing significant morbidity, such as (but not limited to) head and neck lesions that are compromising the airway or great vessels, brachial or lumbar plexus lesions that are causing nerve compression and loss of function, lesions causing significant disfigurement (e.g., orbital lesions), lesions of the extremity that cause limb hypertrophy or loss of function, and painful lesions. Participants with paraspinal PN will be eligible for this trial. Histologic confirmation of tumor is not necessary but should be considered if there are clinical or radiographic findings concerning for malignant transformation of a PN.\n\n1.2.1. For participants enrolled for tumor progression, progression is defined as: Presence of new PN on MRI or CT (documented by comparison with prior MRI or CT), OR A measurable increase in PN size (≥ 20% increase in the volume, or a ≥ 13% increase in the product of the two longest perpendicular diameters, or a ≥ 6% increase in the longest diameter) documented by comparison of two scans (MRI or CT) in the time period of 18 months or less prior to evaluation for this study.\n\n1.2.2. For participants enrolled for tumors causing \"significant disfigurement\" without meeting another criterion (i.e., not progressive or causing other significant morbidity), eligible tumors will be limited to tumors of the head \\& neck or those on other areas of the body that are unable to be concealed by standard garments. In order to enroll a participant with PN for these indications, photographs must be reviewed by a Study Chair and\u002For Co-Chair for decision regarding participant eligibility prior to enrollment.\n\n1.3. Disease status: Measurable disease: Participants must have measurable PN(s) amenable to volumetric MRI analysis. For the purpose of this study, the target lesion must be seen on at least 3 consecutive MRI slices and the field of view must contain the entire tumor of interest. Tumors must be at least 3 mL in volume (most PN 3 cm in longest diameter will meet this criteria). If the tumor is \\\u003C3 cm in longest diameter, the participant may still be eligible. Central review of the MRI of the target PN is required prior to enrollment to ensure that the tumor is measurable and amenable to volumetric analysis.\n\n1.4. Age: Participants must be ≥16 years of age at the time of study entry.\n\n1.5. Performance Level: Participants must have Karnofsky ³ 50%. Note: Participants who are unable to walk because of paralysis, but who are up in a wheelchair, will be considered ambulatory for assessing the performance score.\n\n1.6. Body Surface Area (BSA): Participants must have a BSA of 1.0 m2 or greater.\n\n1.7. Organ Function Requirements:\n\n1.7.1. Adequate Bone Marrow Function Defined as: Absolute neutrophil count (ANC) ≥ 1500\u002FµL without granulocyte colony-stimulating factor support.\n\nWhite blood cell count ≥ 2500\u002FµL Platelet count ³ 100,000\u002FmL without transfusion Hemoglobin ³10.0 gm\u002FdL (\\>5 days between enrollment and last RBC transfusion)\n\n1.7.2. Adequate Renal Function Defined as: Maximum serum creatinine based on age\u002Fgender as per institutional standards OR a creatinine clearance, radioisotope GFR, or calculated creatinine clearance using the Cockcroft-Gault equation ³70ml\u002Fmin\u002F1.73 m2.\n\nCockcroft-Gault equation:\n\n* Males: (140 - age) x weight (kg)\u002F(serum creatinine \\[mg\u002FdL\\] × 72)\n* Females: \\[(140 - age) x weight (kg)\u002F(serum creatinine \\[mg\u002FdL\\] × 72)\\] × 0.85 Urine protein\u002Fcreatinine ratio (UPCR) ≤ 1 mg\u002Fmg (≤ 113.2 mg\u002Fmmol), or 24-h urine protein ≤ 1 g.\n\n1.7.3. Adequate Liver Function Defined as: Total bilirubin (sum of conjugated + unconjugated) £ 1.5x upper limit of normal (ULN) for age (for participants with Gilbert's disease ≤3x ULN), and Alanine aminotransferase (ALT), aspartate aminotransferase (AST), and alkaline phosphatase (ALP) \\\u003C 2.5x the upper limit of normal (ULN).\n\nSerum albumin ³ 2.8 g\u002FdL. PT\u002FINR and partial thromboplastin time (PTT) test \\\u003C 1.3x the laboratory ULN\n\n1.7.4. Adequate Thyroid Function Defined as: ≤ Grade 1 or adequately managed asymptomatic Grade 2 hypothyroidism.\n\n1.7.5. CPK level within normal limits within 14 days from the start of treatment.\n\n1.7.6. Normal pancreatic function: amylase and lipase levels ≤ 1.5 x ULN\n\n1.7.7. Blood pressure within upper limit of normal as defined below. Antihypertensives are permissible to achieve blood pressure within ULN, however must be on stable antihypertensive regimen with no adjustments within 30 days of enrollment.\n\nIn adolescents, a blood pressure (BP) ≤ 90th percentile for age, height, and sex.\n\nIn adults (³18 years of age), a systolic blood pressure ≤130 mmHg and a diastolic pressure of ≤80 mmHg.\n\n1.8. Major surgery: Only participants who are not anticipated to need major surgery within 3 months after enrollment are eligible.\n\n1.9. Sexually active fertile participants and their partners must agree to use effective methods of contraception e.g., hormonal oral contraception, injectables, intrauterine device, surgical sterilization including vasectomy, or hormonal implant with barrier methods (male condom, female condom, or diaphragm with spermicidal gel) during the course of the study and for 4 months after the last dose of study treatment. Barrier methods alone are insufficient. True sexual abstinence is an acceptable method of birth control for both men and women. Persons of childbearing potential will be given a pregnancy test within 7 days prior to first dose of study treatment and must have a negative urine or serum pregnancy test.\n\n1.10. Written informed consent must be obtained from all participants (\\>18 years of age) or their legal guardians (if the participant is \\\u003C18 years of age). Participants or legal guardians must be capable of understanding and complying with the protocol requirements and must have signed the informed consent document. Participants unable to provide informed consent\u002Fassent will NOT be enrolled on this study.\n\n1.11. Willingness to avoid excessive sun exposure and use adequate sunscreen protection if sun exposure is anticipated.\n\n1.12. Willingness to avoid the ingestion of grapefruit and Seville oranges (as well as other products containing these fruits, e.g., grapefruit juice or marmalade) during the study, as these may affect selumetinib metabolism.\n\n2.0 EXCLUSION CRITERIA\n\n2.1. Evidence of an optic pathway or other low-grade glioma, high-grade glioma, malignant peripheral nerve sheath tumor, or other cancer\u002Ftumor requiring treatment with chemotherapy, biologic therapy or radiation therapy.\n\n2.2. Patients with high-grade glioma, atypical or malignant peripheral nerve sheath tumor, or other malignancy who received treatment in the last 12 months. Exceptions include basal cell carcinoma of the skin and squamous cell carcinoma of the skin that have undergone potentially curative therapy.\n\n2.3. Dental braces or prosthesis that interfere with volumetric analysis of the neurofibroma(s).\n\n2.4. Prior Therapy: Participants may have received treatment for a PN or other tumor\u002Fmalignancy but must have fully recovered to baseline or CTCAE ≤ Grade 1 from acute toxicities from prior therapies except alopecia.\n\nMyelosuppressive chemotherapy: Must not have received within 28 days of entry onto this study.\n\n2.5. Hematopoietic growth factors: Must not have received a growth factor that supports platelet, red or white cell number or function within 14 days of initiation of therapy.\n\n2.6. Biologic (anti-neoplastic agent): At least 28 days (or 5 half-lives whichever is longer) since the completion of therapy with a biologic agent. For agents that have known adverse events occurring beyond 28 days after administration (or 5 half-lives whichever is longer), this period must be extended beyond the time during which adverse events are known to occur. These participants must be discussed with the Study Chair on a case-by-case basis.\n\n2.7. Investigational Drugs: At least 28 days (or 5 half-lives whichever is longer) since the completion of therapy with an investigational drug or systemic anticancer treatment. For agents that have known adverse events occurring beyond 28 days after administration (or 5 half-lives whichever is longer), this period must be extended beyond the time during which adverse events are known to occur. These participants must be discussed with the Study Chair on a case-by-case basis.\n\n\\- Prior treatment with cabozantinib or selumetinib is permitted for participants on Phase 1 of this study only (not Phase 1b\u002F2). Participants may have previously received cabozantinib and\u002For a MEK inhibitor but not simultaneously. If participants have received either cabozantinib or selumetinib previously, they must have tolerated either medication at the recommended entry doses for this study or greater and must not have discontinued therapy due to toxicity. Participants who have received the combination of cabozantinib with any MEK inhibitor previously will not be eligible. Prior treatment with cabozantinib and\u002For selumetinib will not be permitted for participants on Phase 1b or Phase 2.\n\n2.8. Radiation therapy: 6 months from involved field radiation to index PN(s) must have elapsed prior to study entry; ³ 6 weeks must have elapsed if participant has received radiation to areas outside index PN(s) Participants who received radiation to the orbit at any time previously are not eligible.\n\n\\>12 weeks must have elapsed between systemic treatment with radionuclides and first dose of study treatment.\n\nParticipants with clinically relevant ongoing complications from prior radiation therapy are not eligible.\n\n2.9. Surgery:\n\n2.9.1. Participants are not eligible if complete resection of a PN with acceptable morbidity is feasible, or if a participant with a feasible surgical option with minimal risk for surgical morbidity refuses surgery. Participants who underwent surgery for a progressive PN will be eligible to enter the study after the surgery, provided the PN was incompletely resected and is measurable.\n\n2.9.2. Any major surgery within 3 months before first dose of study treatment.\n\n2.9.3. Any minor surgeries (e.g., the placement of an implanted vascular device, tooth extractions, biopsy, or an invasive operative procedure for procurement of tissue samples or body fluids using a needle or trocar, other than routine peripheral venous access) within 1 month before first dose of study treatment.\n\n2.9.4. Participants must have complete wound healing from major surgery or minor surgery before first dose of study treatment. Participants with clinically relevant ongoing complications from prior surgery are not eligible.\n\n2.10. Concomitant anticoagulation with coumarin agents (e.g., warfarin), low molecular weight heparins, direct thrombin inhibitors (e.g., dabigatran), direct factor Xa inhibitor betrixaban, or platelet inhibitors (e.g., clopidogrel). Allowed anticoagulants are the following: Prophylactic use of low-dose aspirin for cardio-protection (per local applicable guidelines)\n\n2.11. Clinically significant hematuria, hematemesis, or hemoptysis of \\>0.5 teaspoon (2.5ml) of red blood, or other history of significant bleeding (e.g., pulmonary hemorrhage) within 12 weeks before first dose of study treatment.\n\n2.12. Known cavitating pulmonary lesion(s) or known endotracheal or endobronchial disease manifestation.\n\n2.13. Cardiovascular disorders: 2.13.1. Congestive heart failure New York Heart Association Class 2-4, unstable angina pectoris (Canadian Cardiovascular Society grade II-IV despite medical therapy), prior or current cardiomyopathy, or severe valvular heart disease, baseline left ventricular ejection fraction (LVEF) below the LLN or \\\u003C55% measured by echocardiography or institution's LLN for MUGA, serious cardiac arrhythmias including atrial fibrillation.\n\n2.13.2. Stroke (including transient ischemic attack \\[TIA\\]), acute coronary syndrome or myocardial infarction (MI), or other ischemic event, or thromboembolic event (e.g., deep venous thrombosis, pulmonary embolism) within 6 months before first dose of study treatment.\n\n2.13.3. Participants with a diagnosis of incidental, subsegmental PE or DVT within 6 months are allowed if stable, asymptomatic, and treated with a stable dose of permitted anticoagulation (aspirin) for at least 1 week before first dose of study treatment.\n\n2.13.4. Baseline QTc interval \\>450 msec\n\n2.14. Gastrointestinal (GI) disorders including those associated with a high risk of perforation or fistula formation:\n\n2.14.1. The participant has evidence of tumor invading the GI tract, active peptic ulcer disease, inflammatory bowel disease (e.g., Crohn's disease), diverticulitis, cholecystitis, symptomatic cholangitis or appendicitis, acute pancreatitis, acute obstruction of the pancreatic duct or common bile duct, or gastric outlet obstruction.\n\n2.14.2. Abdominal fistula, GI perforation, bowel obstruction, or intra-abdominal abscess within 6 months before first dose of study treatment.\n\nNote: Complete healing of an intra-abdominal abscess must be confirmed before first dose of study treatment.\n\n2.15. Ophthalmologic conditions:\n\n2.15.1. Current or history of central serous retinopathy\n\n2.15.2. Current or history of retinal vein occlusion\n\n2.15.3. Known intraocular pressure (IOP) \\>21 mmHg (or ULN adjusted by age) or uncontrolled glaucoma (irrespective of IOP). Participants with known glaucoma and increased IOP who do not have meaningful vision (light perception only or no light perception) and are not experiencing pain related to the glaucoma, may be eligible after discussion with the study chair. Participants with orbital plexiform neurofibromas should have IOP measured prior to enrollment.\n\n2.15.4. Participants with any other significant abnormality on ophthalmic examination should be discussed with the Study Chair for potential eligibility.\n\n2.15.5. Ophthalmological findings secondary to long-standing optic pathway glioma (such as visual loss, optic nerve pallor or strabismus) or long-standing orbito-temporal PN (such as visual loss, strabismus) will NOT be considered a significant abnormality for the purposes of the study.\n\n2.16. Other clinically significant disorders that would preclude safe study participation, including:\n\n2.16.1. Serious non-healing wound, ulcer, or bone fracture.\n\n2.16.2. Uncompensated\u002Fsymptomatic hypothyroidism.\n\n2.16.3. Moderate to severe hepatic impairment (Child-Pugh B or C).\n\n2.16.4. Active infection\n\n2.16.5. A known history of HIV seropositivity or known immunodeficiency. HIV testing will not be required as part of this trial, unless HIV is clinically suspected.\n\n2.16.6. Uncontrolled diabetes, severe malnutrition, chronic liver or renal disease\n\n2.16.7. History of organ transplant\n\n2.17. Pregnant or lactating women.\n\n2.18. Inability to swallow tablets.\n\n2.19. Previously identified allergy or hypersensitivity to components of the study treatment formulations.\n\n2.20. Impairment of gastrointestinal function or gastrointestinal disease that may significantly alter the absorption of cabozantinib or selumetinib (e.g., ulcerative disease, uncontrolled nausea, vomiting, diarrhea, malabsorption syndrome or small bowel resection).\n\n2.21. Participants who require chronic concomitant treatment of moderate\u002Fstrong CYP3A4 inducers or inhibitors (Appendix XIII). While not an exclusion criterion, unless clinically indicated, participants should avoid taking other additional non-study medications that may interfere with the study medications. Participants should avoid medications that are known to either induce or inhibit the activity of hepatic microsomal isoenzymes CYP1A2, and CYP2C19, as this may interfere with the metabolism of selumetinib (Appendix XIII).\n\n2.22. Participants with a history of significant noncompliance to medical regimens, are unwilling to or unable to comply with the protocol, or who in the opinion of the investigator may not be able to comply with the safety monitoring requirements of the study.","16 Years",{"count":247,"type":20},30,[23],"Based on the clinical activity of both selumetinib and cabozantinib as monotherapies in clinical trials, the demonstrated activity of these agents in reduced doses in preclinical studies, and the non-overlapping toxicity profiles, the study will assess the tolerability and efficacy of selumetinib and cabozantinib in combination in participants with NF1 ≥16 years old with progressive and\u002For symptomatic PN in a phase 1\u002F1b\u002F2 clinical trial.\n\nTrial Design Phase 1 This will be an open label, dose escalation phase. Dose level escalation will be determined by a rolling six design. In this design, up to 6 participants can be enrolled at a given dose level and then evaluated for dose limiting toxicity (DLT) within the DLT window. The DLT window is defined as 16 weeks in this study based on the long half-life of cabozantinib and the desire to have maximum confidence about long-term tolerability of the combination prior to proceeding to the next dose level.\n\nPhase 1b Once the recommended phase 2 dose has been determined in phase 1, an expanded cohort of 12 participants will be enrolled in phase 1b portion of the study.\n\nPhase 2 This will be an open label, single-arm phase using the recommended phase 2 dose.",[27,139],[252,253],"adolescents","adults","NOT_YET_RECRUITING","2026-03-10",{"date":257,"type":36},"2026-03-12",{"date":259,"type":20},"2026-08-01",{"date":261,"type":20},"2034-08-01",{"name":263,"class":149},"Girish Dhall, MD",{"id":265,"slug":266,"hasResults":11,"nctId":267,"briefTitle":268,"officialTitle":268,"acronym":4,"eligibilityCriteria":269,"healthyVolunteers":11,"sex":16,"minAge":270,"maxAge":4,"enrollmentInfo":271,"targetDuration":4,"studyType":21,"phases":273,"briefSummary":275,"conditions":276,"keywords":277,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":285,"lastUpdatePostDateStruct":286,"startDateStruct":288,"completionDateStruct":290,"leadSponsor":292,"locationsCount":44},"100610886","tailoring-an-online-platform-to-promote-evidence-based-care-for-adults-with-neurofibromatosis-1-and-low-health-literacy-100610886","NCT07233408","Tailoring an Online Platform to Promote Evidence-Based Care for Adults With Neurofibromatosis 1 and Low Health Literacy","Inclusion Criteria:\n\n* Age ≥18 years\n* Currently lives in the United States\n* Has a clinical diagnosis of Neurofibromatosis 1\n* Speaks English\n* Has low health literacy as ascertained by standardized instruments\n* Has an in-person, well-person visit (e.g. not a visit to address an acute medical issue) with their primary care provider (PCP) scheduled within the 3 months following their consent\n\nExclusion Criteria:\n\n* Unwilling or unable to give informed consent\n* Is too cognitively impaired to participate in the opinion of the study investigator (e.g. any cognitive or developmental delay that prevents completion of study questionnaires)\n* Was enrolled in or is the parent or guardian of a participant enrolled in randomized clinical trial NCT06262113","18 Years",{"count":272,"type":20},50,[274],"NA","This decentralized, randomized study seeks to assess the feasibility, acceptability, and preliminary effectiveness of two approaches to assisting Neurofibromatosis 1 (NF1) patients with low health literacy improve their understanding of NF1 symptoms and care recommendations. Participants will be provided with personalized NF1 care letters for themselves and their doctors, along with either NF1 educational videos or a call with an NF1 peer navigator.\n\nAdults with NF1 from across the U.S. who have upcoming annual wellness visits scheduled with a primary care provider (PCP) are eligible to enroll in the study. To see if you might be eligible, fill out a prescreening survey here: https:\u002F\u002Fredcap.link\u002Fnfpeer",[27],[278,111,279,280,281,282,283,284],"Neurofibromatosis","Guideline","Primary Care","Annual Care","Low Health Literacy","Healthcare","PCP","2026-02-24",{"date":287,"type":36},"2026-02-27",{"date":289,"type":36},"2025-12-28",{"date":291,"type":20},"2026-05-30",{"name":293,"class":149},"Massachusetts General Hospital",{"id":295,"slug":296,"hasResults":11,"nctId":297,"briefTitle":298,"officialTitle":299,"acronym":4,"eligibilityCriteria":300,"healthyVolunteers":76,"sex":16,"minAge":270,"maxAge":4,"enrollmentInfo":301,"targetDuration":4,"studyType":21,"phases":302,"briefSummary":303,"conditions":304,"keywords":309,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":319,"lastUpdatePostDateStruct":320,"startDateStruct":322,"completionDateStruct":324,"leadSponsor":326,"locationsCount":44},"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":188,"type":20},[274],"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.",[27,305,306,307,308],"Noonan Syndrome","Legius Syndrome","Cardiofaciocutaneous Syndrome","Costello Syndrome",[310,311,312,313,314,315,316,317,318],"Parenting","Stress","Parent","Therapist","Coach","virtual","Quality of Life","Genetic Condition","Rare","2026-02-18",{"date":321,"type":36},"2026-02-19",{"date":323,"type":36},"2024-01-10",{"date":325,"type":20},"2027-12-31",{"name":42,"class":43},{"id":328,"slug":329,"hasResults":11,"nctId":330,"briefTitle":331,"officialTitle":332,"acronym":333,"eligibilityCriteria":334,"healthyVolunteers":11,"sex":16,"minAge":270,"maxAge":4,"enrollmentInfo":335,"targetDuration":4,"studyType":55,"phases":4,"briefSummary":337,"conditions":338,"keywords":343,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":347,"lastUpdatePostDateStruct":348,"startDateStruct":350,"completionDateStruct":352,"leadSponsor":354,"locationsCount":44},"100555728","neurofibromatosis-type-1-tumor-early-detection-study-100555728","NCT06515860","Neurofibromatosis Type 1 Tumor Early Detection Study","Observational Trial of Liquid Biopsy for Malignant Peripheral Nerve Sheath Tumor (MPNST) Among Participants With Neurofibromatosis Type 1","NF1-TED","Inclusion Criteria:\n\n* 18 years and older (adults only)\n* Neurofibromatosis Type 1 (NF1) diagnosis (2021 Revised Diagnostic Criteria, PMID: 34012067)\n* History of plexiform neurofibroma (PN)\n* Able to read and understand English or Spanish\n* Live in the USA\n\nExclusion Criteria:\n\n* Are children (younger than 18 years old)\n* Do not have NF1\n* Have no evidence of PN\n* Are not able to read and understand English or Spanish",{"count":336,"type":20},1000,"The goal of this observational study is to determine if a liquid biopsy (i.e. blood test) is an effective clinical tool for monitoring the development of malignant peripheral nerve sheath tumor (MPNST) among adults (18 years and older) with Neurofibromatosis Type 1 (NF1), compared to the current standard of care. The main questions it aims to answer are:\n\nHow effective is liquid biopsy compared to the current standard of care (clinical surveillance and imaging) for early detection of MPNST development among people with NF1? Can liquid biopsy offer a cost-effective method for early detection of MPNST in people with NF1? Also, can liquid biopsy provide earlier detection that potentially leads to better outcomes? Also, can offering liquid biopsy improve access to care for people experiencing barriers to access (such as minority populations or people in rural areas)?\n\nAt baseline, participants will be asked to:\n\n* Complete surveys to provide their demographic and NF1-related health information.\n* Report whether or not they are experiencing MPNST-related symptoms.\n* Provide blood samples (15 mL blood total between three tubes, which is approximately one tablespoon).\n\nEvery six months during the five-year follow-up period, participants will be asked to:\n\n* Complete additional surveys to report whether or not they are experiencing MPNST-related symptoms and\u002For if they have been diagnosed with a new MPNST.\n* Provide an additional blood sample (10 mL blood total in one tube).\n\nIf diagnosed with an MPNST by their healthcare provider during the follow-up period, participants will be asked to:\n\n* Complete an additional survey regarding their diagnosis and symptoms.\n* Provide an additional blood sample (10 mL blood in one tube).\n* In parallel, the study team will request a sample of tumor tissue from the care provider, if available.",[339,27,139,82,340,341,342],"Neurofibromatosis Type 1","Malignant Peripheral Nerve Sheath Tumor","Malignant Peripheral Nerve Sheath Tumors","Atypical Neurofibroma",[344,345,346],"Liquid biopsy","Cancer surveillance","Tumor early detection","2026-01-08",{"date":349,"type":36},"2026-01-09",{"date":351,"type":36},"2024-08-07",{"date":353,"type":20},"2030-07",{"name":355,"class":149},"David Miller",{"id":357,"slug":358,"hasResults":11,"nctId":359,"briefTitle":360,"officialTitle":361,"acronym":4,"eligibilityCriteria":362,"healthyVolunteers":76,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":363,"targetDuration":364,"studyType":55,"phases":4,"briefSummary":365,"conditions":366,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":376,"lastUpdatePostDateStruct":377,"startDateStruct":379,"completionDateStruct":381,"leadSponsor":383,"locationsCount":44},"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":336,"type":20},"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.",[367,27,305,368,369,307,308,306,370,371,372,373,374,375],"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":378,"type":36},"2025-12-18",{"date":380,"type":36},"2017-06-27",{"date":382,"type":20},"2065-12",{"name":384,"class":149},"Children's Hospital Medical Center, Cincinnati",{"id":386,"slug":387,"hasResults":11,"nctId":388,"briefTitle":389,"officialTitle":389,"acronym":4,"eligibilityCriteria":390,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":391,"targetDuration":4,"studyType":21,"phases":393,"briefSummary":394,"conditions":395,"keywords":396,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":400,"lastUpdatePostDateStruct":401,"startDateStruct":403,"completionDateStruct":405,"leadSponsor":407,"locationsCount":44},"100536229","a-decentralized-clinical-trial-to-promote-evidence-based-care-for-underserved-patients-with-neurofibromatosis-1-100536229","NCT06262113","A Decentralized Clinical Trial to Promote Evidence-Based Care for Underserved Patients With Neurofibromatosis 1","Adult Inclusion Criteria:\n\n* Currently lives in the United States (including Puerto Rico and other United States territories)\n* Has a clinical diagnosis of neurofibromatosis 1\n* Does not attend an NF clinic within the Children's Tumor Foundation NF Clinic Network\n* Has an in-person, well-person visit with a primary care provider scheduled within 3 months of their consent\n* Speaks English or Spanish\n\nParent\u002FGuardian of a Child with NF1 Inclusion Criteria:\n\n* Currently lives in the United States (including Puerto Rico and other United States territories)\n* Cares for a child (age \\\u003C18 years) with a clinical diagnosis of neurofibromatosis 1\n* Does not attend an NF clinic within the Children's Tumor Foundation NF Clinic Network\n* Their child has an in-person, well-person visit with a primary care provider scheduled within 3 months of their consent\n* Speaks English or Spanish\n\nExclusion Criteria:\n\n* Only one person per household may participate in the study\n* Unwilling or unable to give informed consent",{"count":392,"type":20},294,[274],"The goal of this fully decentralized, randomized controlled trial is to compare the efficacy of two educational interventions for individuals with Neurofibromatosis 1 (NF1). The primary objective of the study is to determine which intervention leads to higher rates of evidenced-based health screenings for NF1 patients in primary care settings.\n\nAdults with NF1 and parents\u002Fguardians of children with NF1 from across the U.S. who do not go to a specialized NF clinic and who have an upcoming annual wellness visits (e.g. an annual physical, a well-child visit, etc.) scheduled with a primary care provider (PCP) are eligible to enroll in the study. To see if you might be eligible, fill out a prescreening survey here: https:\u002F\u002Fredcap.link\u002Fmynfguide",[27],[278,111,279,283,284,312,397,280,281,398,399],"Pediatric","Physical Exam","Well-Child","2025-09-30",{"date":402,"type":36},"2025-10-03",{"date":404,"type":36},"2024-12-03",{"date":406,"type":20},"2026-08",{"name":293,"class":149},{"id":409,"slug":410,"hasResults":11,"nctId":411,"briefTitle":412,"officialTitle":412,"acronym":4,"eligibilityCriteria":413,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":270,"enrollmentInfo":414,"targetDuration":4,"studyType":21,"phases":416,"briefSummary":417,"conditions":418,"keywords":4,"overallStatus":254,"whyStopped":4,"lastUpdateSubmitDate":419,"lastUpdatePostDateStruct":420,"startDateStruct":422,"completionDateStruct":424,"leadSponsor":426,"locationsCount":4},"100598893","icancope-with-nf-innovating-an-efficacious-digital-self-management-and-transitional-care-program-for-adolescents-with-neurofibromatosis-100598893","NCT07077408","iCanCope With NF: Innovating an Efficacious Digital Self-management and Transitional Care Program for Adolescents With Neurofibromatosis","Inclusion Criteria:\n\n* Diagnosed with NF1\n* Experience of NF1-related pain or discomfort that interfered with function over the past 2 weeks\n* Able to speak and read English\n\nExclusion Criteria:\n\n* Moderate to severe cognitive impairments that would prevent independent use the iCanCope intervention, as determined through consultation with their health care provider",{"count":415,"type":20},60,[274],"Neurofibromatosis Type 1 (NF1) often significantly impairs the mental health, social life, self-esteem, and quality of life of adolescent patients. These impacts can be made worse with the experience of NF1-related pain. Nearly three-quarters (73%) of caregivers report that pain interferes with their child's daily functioning, including their mental health, activity, sleep, relationships, and school attendance. Our team has developed the first mobile self-management platform app for adults with NF1-related pain, called iCanCope with NF. It is designed to help people to track their pain, sleep, mood, exercise, and energy level. It helps them set goals, gives suggestions about how to deal with NF1-related pain, and connects them with other individuals living with NF. The goal of this project is to test out a modified version of iCanCope with NF, for youth.",[27],"2025-07-11",{"date":421,"type":36},"2025-07-22",{"date":423,"type":20},"2026-03",{"date":425,"type":20},"2027-03",{"name":427,"class":149},"The Hospital for Sick Children",{"id":429,"slug":430,"hasResults":11,"nctId":431,"briefTitle":432,"officialTitle":433,"acronym":4,"eligibilityCriteria":434,"healthyVolunteers":11,"sex":16,"minAge":435,"maxAge":436,"enrollmentInfo":437,"targetDuration":4,"studyType":21,"phases":439,"briefSummary":440,"conditions":441,"keywords":4,"overallStatus":254,"whyStopped":4,"lastUpdateSubmitDate":442,"lastUpdatePostDateStruct":443,"startDateStruct":445,"completionDateStruct":447,"leadSponsor":449,"locationsCount":44},"100594818","phase-1-follow-up-study-to-evaluate-the-safety-and-efficacy-of-fcn-159-in-pediatric-participants-with-neurofibromatosis-type-1-100594818","NCT07024394","Follow-up Study to Evaluate the Safety and Efficacy of FCN-159 in Pediatric Participants With Neurofibromatosis Type 1","A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Ruvometinib Tablets (FCN-159 Tablets) in Pediatric Participants With Neurofibromatosis Type 1","Inclusion Criteria:\n\nPatients from the pediatric cohort of the FCN-159-002 study. Willing to participate in the long-term follow-up study and capable of understanding and voluntarily signing the informed consent form.\n\nExclusion Criteria:\n\nAny clinically significant condition that, in the investigator's judgment, may interfere with study participation or compliance with safety requirements.\n\nPatients unable to comply with visit-related requirements.","2 Years","20 Years",{"count":438,"type":20},65,[23,24],"FCN-159 (Luvometinib Tablets), an orally available and highly potent selective inhibitor of MEK1\u002F2,demonstrated good tolerability and exhibited notable anti-tumor activity in pediatric pts with NF1-related PN in study NCT04954001.This study is a 5-year long-term follow-up of the FCN-159-002 study, involving all enrolled patients to further assess safety, growth and development effects, and treatment efficacy.",[27,139,111],"2025-06-09",{"date":444,"type":36},"2025-06-17",{"date":446,"type":20},"2025-06-12",{"date":448,"type":20},"2029-09-23",{"name":450,"class":68},"Shanghai Fosun Pharmaceutical Industrial Development Co. Ltd.",{"id":452,"slug":453,"hasResults":11,"nctId":454,"briefTitle":455,"officialTitle":456,"acronym":4,"eligibilityCriteria":457,"healthyVolunteers":11,"sex":16,"minAge":458,"maxAge":459,"enrollmentInfo":460,"targetDuration":4,"studyType":21,"phases":461,"briefSummary":462,"conditions":463,"keywords":465,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":467,"lastUpdatePostDateStruct":468,"startDateStruct":470,"completionDateStruct":472,"leadSponsor":474,"locationsCount":44},"100264949","phase-2-photodynamic-therapy-for-benign-dermal-neurofibromas--phase-ii-100264949","NCT02728388","Photodynamic Therapy for Benign Dermal Neurofibromas- Phase II","Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II","Inclusion Criteria:\n\n1. Patient is 14 years or older.\n2. Diagnosed NF1, determined by American Academy of Neurology Guidelines (see Diagnosis section).\n3. Tumor Location: cutaneous, trunk, or limbs only.\n4. Tumor Type: superficial dermal neurofibromas ≤4mm deep.\n5. Patient has provided written informed consent.\n6. Patient is willing to and can comply with study follow-up requirements.\n7. Absence of any other malignancy.\n\nExclusion Criteria:\n\n1. Life expectancy less than 3 years.\n2. Pregnancy.\n3. Cutaneous photosensitivity to the wavelengths used to active PDT.\n4. A diagnosis of porphyria.\n5. Allergy to aminolevulinic acid or any of the topical solution vehicle components.\n6. Previous chemotherapy within 6 weeks of proposed PDT.\n7. Other concurrent tumor therapy.","14 Years","30 Years",{"count":247,"type":20},[24],"The investigators wish to determine the time to disease progression for benign neurofibromas treated with Levulan Kerastick topical photosensitizer and red light photodynamic therapy (PDT) in patients with neurofibromatosis type 1 (NF1).\n\nThe investigators also wish to measure tumor size for control and treatment tumors in order to gain insights into tumor growth rates.",[464],"NEUROFIBROMATOSIS 1",[111,466,339],"Neurofibroma","2025-05-05",{"date":469,"type":36},"2025-05-08",{"date":471,"type":36},"2016-08",{"date":473,"type":20},"2025-12",{"name":475,"class":149},"Donald Basel",{"id":477,"slug":478,"hasResults":11,"nctId":479,"briefTitle":480,"officialTitle":481,"acronym":4,"eligibilityCriteria":482,"healthyVolunteers":11,"sex":16,"minAge":270,"maxAge":4,"enrollmentInfo":483,"targetDuration":4,"studyType":21,"phases":485,"briefSummary":486,"conditions":487,"keywords":4,"overallStatus":254,"whyStopped":4,"lastUpdateSubmitDate":488,"lastUpdatePostDateStruct":489,"startDateStruct":491,"completionDateStruct":493,"leadSponsor":494,"locationsCount":4},"100563760","phase-2-clinical-study-on-the-treatment-of-type-i-neurofibromatosis-with-smeitinib-hydrosulfate-capsule-100563760","NCT06620354","Clinical Study on the Treatment of Type I Neurofibromatosis With Smeitinib Hydrosulfate Capsule","Prospective, One-arm, Phase II Clinical Study of Smeitinib Hydrosulfate Capsules for the Treatment of Patients With Type I Neurofibromatosis","Inclusion Criteria:\n\n1. Age ≥18 years old\n2. According to the National Institutes of Health (NIH) updated diagnostic criteria for NF1 in 2021, 6 or more CALMs: d\\>5 mm before puberty or d\\>15 mm after puberty; 2 or more neurofibromas of any type or 1 plexiform neurofibroma;\n\n   ③ Freckles in the armpit or groin area;\n\n   ④ optic glioma (OPG);\n\n   ⑤ Two or more Lisch nodules were detected by slit-lamp, or two or more choroidal abnormalities were detected by optical coherence tomography (OCT)\u002F near-infrared (NIR) imaging;\n\n   ⑥ Characteristic bone lesions, such as sphenoid dysplasia, anterolateral tibial curvature; Pathogenic heterozygote NF1 variant with 50% allele variant fraction in normal tissues (such as white blood cells); NF1 is diagnosed in persons who have no history of parental disease and meet 2 or more clinical characteristics Individuals with a history of parental disease who meet one or more clinical characteristics may be diagnosed with NF1\n3. Before admission, the head and neck surgeon conducted pathological biopsy of solid tumors, confirmed pathological diagnosis and eliminated malignant peripheral schwannoma (MPNST).\n4. There was at least one measurable tumor lesion according to the solid tumor efficacy evaluation criteria RECIST 1.1\n5. The tumor invaded the brain, spine and other important organs, no indication of surgical resection\n6. The performance of the Eastern Cooperative Oncology Group (ECOG) was 0-1\n7. Blood routine: white blood cell count (WBC) ≥3.0×109\u002FL; Absolute neutrophil count (ANC) ≥ 1.5×109\u002FL; Platelet (PLT) ≥ 100×109\u002FL; Hemoglobin level (HGB) ≥ 9.0 g\u002FdL (7 days without corresponding supportive treatment, such as blood transfusion and increased white blood cells).\n8. Liver function: the patient's aspartate aminotransferase (AST) and alanine aminotransferase (ALT) were less than 2.5 times the upper limit of reference value (ULN); Albumin (ALB) ≥ 30 g\u002FL.\n9. Renal function: serum creatinine ≤1.5 times ULN or creatinine clearance (CrCl) ≥ 50mL\u002Fmin (using Cockcroft\u002FGault formula); Urinary protein (UPRO) \\\u003C (++), or 24-hour urinary protein volume \\\u003C 1.0 g.\n10. Cardiac function: creatine phosphokinase ≤200U\u002FL, left ventricular ejection fraction (LVEF) ≥50%;\n11. Have not participated in other clinical trials within the past 30 days;\n12. Patients who voluntarily participate in the project and sign informed consent.\n\nExclusion Criteria:\n\n1. The patient had abnormal blood indexes and abnormal liver, kidney and heart function, and could not tolerate the clinical study process after multidisciplinary consultation and evaluation\n2. Patients have malignant peripheral schwannoma (MPNST) or other malignant tumors, heart disease and other serious complications, or have previously undergone anti-tumor therapy such as surgery, chemotherapy, radiotherapy\n3. Unable to complete the entire clinical study due to personal, social and economic reasons\n4. there is a serious systemic disease in the past and the disease cannot be cured or controlled by medicine at present\n5. Pregnant patients",{"count":484,"type":20},33,[24],"This study focused on patients with type I neurofibromatosis, who currently lack effective drug therapy and have a high recurrence rate after surgical resection. As a MEK inhibitor, Smetinib bisulfate capsule can induce tumor shrinkage by selectively binding mitogen-activated protein kinase (MEK) 1\u002F2 protein, blocking the mitogen-activated protein kinase\u002Fextracellular signal regulatory kinase signaling pathway that regulates key cell responses. To create conditions for disease control, radical surgical resection, reducing postoperative recurrence and reducing complications. The purpose of this study was to provide treatment with Smetinib bisulfate for patients with type I neurofibromatosis, observe the therapeutic effect in stages, convert patients without surgical indications into patients with surgical indications, increase the proportion of surgical resection and reduce the recurrence rate. Objective tumor response rate (ORR) after drug treatment was used as the main outcome index in this study. The resectable scope, duration of remission (DOR), progression-free survival (PFS) were used as secondary outcome indicators to investigate the improvement of resectable rate, reduction of resectable scope and postoperative complications, tumor shrinkage effect, and the stability of curative effect of the use of smetinib bisulfate capsule on type I neurofibromatosis.",[27],"2024-09-27",{"date":490,"type":36},"2024-10-01",{"date":492,"type":20},"2024-09-30",{"date":95,"type":20},{"name":495,"class":149},"Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University",{"id":497,"slug":498,"hasResults":11,"nctId":499,"briefTitle":500,"officialTitle":501,"acronym":4,"eligibilityCriteria":502,"healthyVolunteers":11,"sex":16,"minAge":270,"maxAge":4,"enrollmentInfo":503,"targetDuration":4,"studyType":21,"phases":504,"briefSummary":505,"conditions":506,"keywords":4,"overallStatus":254,"whyStopped":4,"lastUpdateSubmitDate":488,"lastUpdatePostDateStruct":507,"startDateStruct":508,"completionDateStruct":509,"leadSponsor":510,"locationsCount":4},"100563816","phase-2-the-clinical-study-of-the-treatment-of-patients-with-type-i-neurofibromatosis-with-smetinib-hydrosulfate-capsule-100563816","NCT06621082","The Clinical Study of the Treatment of Patients With Type I Neurofibromatosis With Smetinib Hydrosulfate Capsule","A Prospective, One-arm, Phase II Clinical Study of Smeitinib Hydrosulfate Capsules for the Treatment of Patients With Type I Neurofibromatosis After Surgery","Inclusion Criteria:\n\n1. Age ≥18 years old\n2. According to the National Institutes of Health (NIH) updated diagnostic criteria for NF1 in 2021, 6 or more CALMs: d\\>5 mm before puberty or d\\>15 mm after puberty; 2 or more neurofibromas of any type or 1 plexiform neurofibroma;\n\n   ③ Freckles in the armpit or groin area;\n\n   ④ optic glioma (OPG);\n\n   ⑤ Two or more Lisch nodules were detected by slit-lamp, or two or more choroidal abnormalities were detected by optical coherence tomography (OCT)\u002F near-infrared (NIR) imaging;\n\n   ⑥ Characteristic bone lesions, such as sphenoid dysplasia, anterolateral tibial curvature; Pathogenic heterozygote NF1 variant with 50% allele variant fraction in normal tissues (such as white blood cells); NF1 is diagnosed in persons who have no history of parental disease and meet 2 or more clinical characteristics Individuals with a history of parental disease who meet one or more clinical characteristics may be diagnosed with NF1\n3. Before admission, the head and neck surgeon conducted pathological biopsy of solid tumors, confirmed pathological diagnosis and eliminated malignant peripheral schwannoma (MPNST).\n4. There was at least one measurable tumor lesion according to the solid tumor efficacy evaluation criteria RECIST 1.1\n5. The tumor did not invade the brain, spine and other important organs, there are indications of surgical resection and surgical treatment\n6. The performance of the Eastern Cooperative Oncology Group (ECOG) was 0-1\n7. Blood routine: white blood cell count (WBC) ≥3.0×109\u002FL; Absolute neutrophil count (ANC) ≥ 1.5×109\u002FL; Platelet (PLT) ≥ 100×109\u002FL; Hemoglobin level (HGB) ≥ 9.0 g\u002FdL (7 days without corresponding supportive treatment, such as blood transfusion and increased white blood cells).\n8. Liver function: the patient's aspartate aminotransferase (AST) and alanine aminotransferase (ALT) were less than 2.5 times the upper limit of reference value (ULN); Albumin (ALB) ≥ 30 g\u002FL.\n9. Renal function: serum creatinine ≤1.5 times ULN or creatinine clearance (CrCl) ≥ 50mL\u002Fmin (using Cockcroft\u002FGault formula); Urinary protein (UPRO) \\\u003C (++), or 24-hour urinary protein volume \\\u003C 1.0 g.\n10. Cardiac function: creatine phosphokinase ≤200U\u002FL, left ventricular ejection fraction (LVEF) ≥50%;\n11. Have not participated in other clinical trials within the past 30 days;\n12. Patients who voluntarily participate in the project and sign informed consent.\n\nExclusion Criteria:\n\n1. The patient had abnormal blood indexes and abnormal liver, kidney and heart function, and could not tolerate the clinical study process after multidisciplinary consultation and evaluation\n2. The patient has become malignant peripheral schwannoma (MPNST) or is accompanied by other malignant tumors, heart disease and other serious complications, or has previously received chemotherapy, radiotherapy and other anti-tumor therapy\n3. Unable to complete the entire clinical study due to personal, social and economic reasons\n4. there is a serious systemic disease in the past and the disease cannot be cured or controlled by medicine at present\n5. Pregnant patients",{"count":178,"type":20},[24],"This study focused on patients with type I neurofibromatosis undergoing surgical treatment, who currently lack effective drug therapy and have a high recurrence rate after surgical resection. For patients with small solid tumors, limited space, and no invasion of the brain, spine and other important organs, surgical treatment is the main treatment. As a MEK inhibitor, Smetinib bisulfate capsule can induce tumor shrinkage and reduce postoperative recurrence by selectively binding mitogen-activated protein kinase (MEK) 1\u002F2 protein to block the mitogen-activated protein kinase\u002Fextracellular signal regulatory kinase signaling pathway that regulates key cell responses. The purpose of this study was to treat patients with type I neurofibromatosis with indications of surgery with the drug smetinib bisulfate after surgical treatment, observe the therapeutic effect of the drug in stages, consolidate the postoperative effect and reduce the recurrence rate. In this study, progression-free survival (PFS) after postoperative drug treatment was used as the main outcome index, and duration of remission (DOR) and objective response rate (ORR) were used as secondary outcome indicators to investigate the efficacy of the use of Smetinib hydrosulfate capsule on tumor control, reduction of recurrence rate and stability of efficacy in patients with type I neurofibromatosis after surgery.",[27],{"date":490,"type":36},{"date":492,"type":20},{"date":95,"type":20},{"name":495,"class":149},{"id":512,"slug":513,"hasResults":11,"nctId":514,"briefTitle":515,"officialTitle":515,"acronym":4,"eligibilityCriteria":516,"healthyVolunteers":76,"sex":16,"minAge":270,"maxAge":4,"enrollmentInfo":517,"targetDuration":4,"studyType":55,"phases":4,"briefSummary":519,"conditions":520,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":546,"lastUpdatePostDateStruct":547,"startDateStruct":549,"completionDateStruct":551,"leadSponsor":553,"locationsCount":555},"100556321","genetic-bases-of-neuroendocrine-neoplasms-in-mexican-patients-100556321","NCT06523582","Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients","Inclusion Criteria:\n\nAdult patients with a new or previous clinical diagnosis of any of the following conditions:\n\n* Isolated NENs with sporadic presentation, including bronchopulmonary NENs, gastrointestinal NENs, medullary thyroid carcinoma, pancreatic NENs, paragangliomas, pheochromocytomas, pituitary neuroendocrine tumors, and primary hyperparathyroidism.\n* Familial isolated NENs, including familial isolated pituitary adenoma, familial pheochromocytomas and paragangliomas, familial primary hyperparathyroidism, familial gastrointestinal stromal tumors and X-linked acrogigantism.\n* Clinical syndromes encompassing NENs, with familial or sporadic presentation, including Carney complex, Carney-Stratakis syndrome, Carney triad, Cowden syndrome, DICER1 syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, multiple endocrine neoplasia type 4, neurofibromatosis type 1, Pacak-Zhuang syndrome, paraganglioma, pheochromocytoma and pituitary adenoma syndrome, tuberous sclerosis complex, Von Hippel Lindau syndrome.\n\nExclusion criteria:\n\n* Age \\\u003C18 years.\n* Refusal to give informed consent.",{"count":518,"type":20},750,"Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and\u002For distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are among the most frequently inherited human tumors, presenting either isolated or as part of syndromes in which a single patient or family develops multiple tumors. There are also non-inherited changes in the genetic information of the tumor cells that are potential targets for treatment. Both inherited and non-inherited DNA defects can be identified using modern routine genetic tests which, unfortunately, are not widely available in Mexico.\n\nThis project seeks to uncover the genetic defects causing NENs in a large cohort of Mexican patients, using three different methods for genetic testing. Adult individuals with various types of NENs from two reference hospitals in Mexico City will be invited to participate. After completing informed consent, blood and, if possible, tissue samples will be obtained from all participants. Clinical details, laboratory results, imaging studies, and histopathological data at disease presentation will be retrieved.\n\nAn initial screening will be performed by analyzing changes in the sequence of multiple genes that have been associated with the occurrence of NENs. In cases with negative screening, a specific method to assess changes in the number of copies of the same genes will also be employed. Finally, sequences of all DNA regions encoding information required to make proteins will be obtained in selected cases. Analyses will be carried out in blood and, if available, also in tumor tissue samples from study participants. Screening of additional family members will be offered.\n\nThis project will accurately describe the repertoire of specific defects causing NENs in the study population, and will likely uncover and characterize novel genetic associations. The results will contribute for a better understanding of the alterations within and outside known driver genes that shape syndromic presentations, tumor behaviors, and inheritance patterns in individuals with NENs. These data will contribute to improve the information on the molecular bases of NENs, including alterations that can be used as therapeutic targets.",[521,522,523,524,525,526,527,528,529,530,531,532,533,534,535,536,537,538,539,540,541,542,543,544,27,545],"Neuroendocrine Neoplasm","Neuroendocrine Neoplasm of Gastrointestinal Tract","Neuroendocrine Neoplasm of Lung","Thymic Neuroendocrine Neoplasm","Neuroendocrine Tumor of Pancreas","Gastrointestinal Stromal Tumors","Medullary Thyroid Cancer","Paraganglioma","Pheochromocytoma","Primary Hyperparathyroidism","Pituitary Tumor","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia Type 4","Carney Complex","Carney Stratakis Dyad","Carney Triad","Cowden Syndrome","DICER1 Syndrome","Li-Fraumeni Syndrome","Lynch Syndrome","Von Hippel-Lindau Disease","Familial Isolated Pituitary Adenoma","X-Linked Acrogigantism","Tuberous Sclerosis","2024-07-22",{"date":548,"type":36},"2024-07-26",{"date":550,"type":36},"2022-08-03",{"date":552,"type":20},"2037-03-01",{"name":554,"class":149},"Universidad Nacional Autonoma de Mexico",3,{"id":557,"slug":558,"hasResults":11,"nctId":559,"briefTitle":560,"officialTitle":561,"acronym":4,"eligibilityCriteria":562,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":563,"targetDuration":364,"studyType":55,"phases":4,"briefSummary":565,"conditions":566,"keywords":569,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":572,"lastUpdatePostDateStruct":573,"startDateStruct":575,"completionDateStruct":577,"leadSponsor":579,"locationsCount":44},"100200456","neurofibromatosis-nf-registry-portal-100200456","NCT01885767","Neurofibromatosis (NF) Registry Portal","Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation","Inclusion Criteria:\n\n* Diagnosed with NF1\n* Diagnosed with NF2\n* Diagnosed with Schwannomatosis\n\nExclusion Criteria:\n\n* Failure to complete account registration",{"count":564,"type":20},20000,"The NF Registry is a database of patient-reported symptoms, treatments, and experiences with their neurofibromatosis disease. It is a contact registry to relay clinical trial opportunities to targeted patient subgroups, and to supply de-identified disease data to researchers. It has the potential to become a natural history resource.",[27,567,568],"Neurofibromatosis 2","Schwannomatosis",[278,570,27,111,567,571,568],"NF","NF2","2023-08-29",{"date":574,"type":36},"2023-08-30",{"date":576,"type":4},"2012-06",{"date":578,"type":20},"2050-06",{"name":580,"class":149},"The Children's Tumor Foundation",{"id":582,"slug":583,"hasResults":11,"nctId":584,"briefTitle":585,"officialTitle":586,"acronym":4,"eligibilityCriteria":587,"healthyVolunteers":11,"sex":16,"minAge":270,"maxAge":588,"enrollmentInfo":589,"targetDuration":4,"studyType":21,"phases":590,"briefSummary":591,"conditions":592,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":593,"lastUpdatePostDateStruct":594,"startDateStruct":596,"completionDateStruct":598,"leadSponsor":600,"locationsCount":44},"100464700","phase-2-hl-085-in-adults-with-neurofibromatosis-type-1-nf1-and-inoperable-plexiform-neurofibromas-100464700","NCT05331105","HL-085 in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas","A Multi-center, Open-label, Single-arm Phase II Study to Evaluate the Efficacy and Safety of HL-085 in the Treatment of Adult Participants With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas","Inclusion Criteria:\n\n* Age: patients must be ≥18 years of age at the time of study entry.\n* Diagnosis: Patients must have inoperable and symptomatic plexiform neurofibromas(PN), and patients must have NF1 mutation or meet at least 1 of the following NF1 diagnostic criteria:\n\n  ① ≥6 cafe-au-lait macules ;\n\n  ② Axillary freckling or freckling in inguinal regions;\n\n  ③ ≥2 Lisch nodules (iris hamartomas);\n\n  ④ A distinctive bony lesion such as dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex);\n\n  ⑤ An optic pathway glioma;\n\n  ⑥ First-degree relative with NF1.\n* Patients must have a measurable lesion, defined as at least 3 cm in length, amenable to MRI for efficacy assessment.\n* Eastern Cooperative Oncology Group (ECOG) performance status of 0-2.\n* Patients are able to understand and voluntarily sign a written informed consent form.\n* Patients must be willing and able to complete study procedures and follow-up examinations.\n\nExclusion Criteria:\n\n* Patients who are unable to undergo MRI scans (prosthesis, prosthesis, braces, etc.) or patients with lesions that cannot be evaluated by MRI.\n* Patients do not have adequate organ function.\n* Patients who are unable to take drugs orally, have difficulty swallowing or anything that may lead to inadequate drug absorption.\n* Prior treatment with MEK 1\u002F2 inhibitors.\n* Patients known to be allergic to the ingredients or analogues of the study drug.\n* Patients with previous or current retinal diseases such as retinal vein occlusion (RVO), retinal pigment epithelium detachment (RPED), central serous retinopathy (CSR), etc. (except retinopathy caused by research diseases).\n* With infections or other uncontrolled disease.\n* Strong CYP2C9 inhibitors or inducers within 7 days before treatment of the study drug.\n* Patients who received surgery within 4 weeks or radiotherapy within 6 weeks before enrollment.\n* Patients who participated in any other clinical study treatment within 4 weeks before enrollment.\n* Patients treated with anti-NF1 treatment with unresolved chronic toxicity.\n* Clinical judgment by the investigator that the patient should not participate in the study.","80 Years",{"count":188,"type":20},[24],"This is a Multi-center, Open-label, Single-arm Phase II Study to Evaluate the Efficacy and Safety of HL-085 in the treatment of Adult Participants with Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas(PN)",[27,82],"2023-05-29",{"date":595,"type":36},"2023-05-31",{"date":597,"type":36},"2021-10-18",{"date":599,"type":20},"2028-10-31",{"name":601,"class":68},"Shanghai Kechow Pharma, Inc."]