[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"neurofibromatosis-type-1\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:neurofibromatosis-type-1":23},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,9,0,[8,36,112,145,173,201,226,249,279],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":4,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":25,"lastUpdatePostDateStruct":26,"startDateStruct":29,"completionDateStruct":31,"leadSponsor":33,"locationsCount":5},"100609957","prevalence-clinical-characteristics-progression-and-management-of-neurofibromatosis-type-1-in-egypt-nf1-egy-100609957",false,"NCT07221331","Prevalence, Clinical Characteristics, Progression, and Management of Neurofibromatosis Type 1 in Egypt (NF1-Egy)","PRECIOUS Egypt","Inclusion Criteria:\n\nA. Male or female patients of any age at index date (first diagnosis of NF1 and\u002For PN).\n\nB. Have been diagnosed with NF1 according to the NIH Consensus Development Conference diagnostic criteria or the revised criteria between 01-Jan- 2010 and 31-December-2023.\n\nExclusion Criteria:\n\nA. Missing NF1 diagnosis data in their medical record.","ALL",{"count":18,"type":19},200,"ESTIMATED","OBSERVATIONAL","Neurofibromatosis type 1 (NF1), a genetic disorder, results from NF1 gene mutations with nearly complete penetrance (1). NF1 is considered common as a rare disease; it has a birth incidence of approximately one every 3000 and a prevalence of one case every 3000-6000 individuals.\n\nPatients with NF1 present lifelong phenotypic variabilities, including those mentioned in the National Institutes of Health (NIH) diagnostic criteria: multiple cafe-au-lait macules, freckling, Lisch nodules, cutaneous neurofibromas, plexiform neurofibromas (PNs), optic pathway gliomas (OPG), and osseous lesions (1). Regarding PNs, they are present in about 30-50% of NF1 patients with deeper growth along internal nerve plexus cranial or large peripheral nerve sheaths, compared to cutaneous neurofibromas.\n\nNF1 clinical expression is unpredictable, age-related, and varies among patients; additionally, as a tumor predisposition disorder, it is associated with neoplastic complications that impair health-related quality of life (QoL). Thus, it is essential to gather data about the natural history of the disease to understand its burden on patients with NF1 and those who develop PN.\n\nBesides that, NF1 prevalence and patients' clinical characteristics are not well recognized in Egypt, and full surgical resection of PN is often challenging due to its invasive nature, location, and size. Accordingly, this is a disease registry to collect data about patients with NF1, both pediatrics and adults. And to understand the natural history of this disorder in Egypt over the past 14 years in real-world settings. For patients with NF1, with or without PNs, we aim to understand their treatment patterns and explore clinical and nonclinical factors influencing targeted outcomes.",[23],"Neurofibromatosis Type 1","RECRUITING","2026-06-16",{"date":27,"type":28},"2026-06-17","ACTUAL",{"date":30,"type":28},"2025-11-19",{"date":32,"type":19},"2026-09-30",{"name":34,"class":35},"AstraZeneca","INDUSTRY",{"id":37,"slug":38,"hasResults":11,"nctId":39,"briefTitle":40,"officialTitle":40,"acronym":41,"eligibilityCriteria":42,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":43,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":45,"conditions":46,"keywords":92,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":104,"completionDateStruct":106,"leadSponsor":108,"locationsCount":111},"100289631","familial-investigations-of-childhood-cancer-predisposition-100289631","NCT03050268","Familial Investigations of Childhood Cancer Predisposition","SJFAMILY","NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown below, you may enroll regardless of the results of your clinical genetic testing.\n\nDEFINITION OF FAMILIAR CANCER FOR THIS PROTOCOL:\n\nIn this protocol, the definition of \"Familial Cancer\" is met if any of the following is present:\n\n* An individual with a history of cancer diagnosed under 26 years of age who has at least one first, second or third degree relative with a history of cancer diagnosed under 51 years of age; OR\n* An individual who has been diagnosed with more than one cancer, at least one of which was diagnosed under 26 years of age; OR\n* An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome; OR\n* An individual with a congenital cancer diagnosed before 6 months of age; OR\n* An individual with a rare pediatric cancer or tumor diagnosed before 26 years of age\n\nº Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.\n\nINCLUSION CRITERIA:\n\n* An individual who meets this protocol's definition of \"Familial Cancer,\" as above.\n* Biologic relatives of an individual meeting this protocol's definition of \"Familial Cancer,\" who are either affected or unaffected by cancer.\n\nEXCLUSION CRITERIA:\n\n* An inability or unwillingness of the research participant or his\u002Fher legally authorized representative (LAR) to provide written informed consent.\n* The participant has received allogeneic bone marrow transplantation and has NO pre-transplant germline (cancer-unaffected) DNA available AND is unwilling to provide a skin sample.",{"count":44,"type":19},1500,"NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing.\n\nWhile it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition.\n\nThe purpose of this protocol is to identify novel cancer predisposing genes and\u002For genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer.\n\nPRIMARY OBJECTIVE:\n\n* Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members.\n\nSECONDARY OBJECTIVE:\n\n* Identify novel cancer predisposing genes and\u002For genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.",[47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,23,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91],"Acute Leukemia","Adenomatous Polyposis","Adrenocortical Carcinoma","AML","BAP1 Tumor Predisposition Syndrome","Carney Complex","Choroid Plexus Carcinoma","Constitutional Mismatch Repair Deficiency Syndrome","Diamond-Blackfan Anemia","DICER1 Syndrome","Dyskeratosis Congenita","Emberger Syndrome","Familial Acute Myeloid Leukemia","Familial Adenomatous Polyposis","Fanconi Anemia","Familial Cancer","Familial Wilms Tumor","Familial Neuroblastoma","GIST","Hereditary Breast and Ovarian Cancer","Hereditary Paraganglioma-Pheochromocytoma Syndrome","Hodgkin Lymphoma","Juvenile Polyposis","Li-Fraumeni Syndrome","Lynch Syndrome","MDS","Melanoma Syndrome","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Neuroblastoma","Neurofibromatosis Type II","Nevoid Basal Cell Carcinoma Syndrome","Non Hodgkin Lymphoma","Noonan Syndrome and Other Rasopathy","Overgrowth Syndromes","Pancreatic Cancer","Peutz-Jeghers Syndrome","Pheochromocytoma\u002FParaganglioma","PTEN Hamartoma Tumor Syndrome","Retinoblastoma","Rhabdoid Tumor Predisposition Syndrome","Rhabdomyosarcoma","Rothmund-Thomson Syndrome","Tuberous Sclerosis","Von Hippel-Lindau Disease",[93,94,95,96,97,98,99,100,101],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","2026-06-15",{"date":27,"type":28},{"date":105,"type":28},"2017-04-06",{"date":107,"type":19},"2037-03-31",{"name":109,"class":110},"St. Jude Children's Research Hospital","OTHER",1,{"id":113,"slug":114,"hasResults":11,"nctId":115,"briefTitle":116,"officialTitle":116,"acronym":4,"eligibilityCriteria":117,"healthyVolunteers":11,"sex":16,"minAge":118,"maxAge":119,"enrollmentInfo":120,"targetDuration":4,"studyType":122,"phases":123,"briefSummary":125,"conditions":126,"keywords":127,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":134,"lastUpdatePostDateStruct":135,"startDateStruct":137,"completionDateStruct":139,"leadSponsor":141,"locationsCount":144},"100555104","a-study-to-evaluate-the-feasibility-of-a-physiologic-biomarker-to-assess-pain-and-other-sensory-problems-using-pupillometry-in-participants-with-neurofibromatosis-type-1-nf1-100555104","NCT06507748","A Study to Evaluate the Feasibility of a Physiologic Biomarker to Assess Pain and Other Sensory Problems Using Pupillometry in Participants With Neurofibromatosis Type 1 (NF1)","* INCLUSION CRITERIA:\n* History of clinical or genetic diagnosis of NF1 as per the 2021 revised diagnostic criteria\n* Age \\>= 1 year\n* At least one digit (finger or toe) without open wounds for application of the device\n* Individuals must understand English or Spanish\n* Individuals who are \\\u003C 18 years must have a caregiver willing to help the child engage in study procedures, assist with fitting the AlgometRx Nociometer (Registered Trademark) device, and complete the observer reported (ObsRO) measures. Note: the caregiver of a child participant \\>= 5 years old must be able to understand English or Spanish, the caregiver of a child participant 1-4 years old must be able to understand English (to help complete the observational pain measure for the younger children that is only available in English)\n* Ability of individual or parent\u002Fguardian to understand and the willingness to sign a written informed consent document\n\nEXCLUSION CRITERIA\n\n* History of eye pathology which precludes pupillometry, such as problems with pupillary reflex, blindness or inability to open at least one eye fully for evaluation\n* Individuals with chronic use of medication that specifically affects their pupillary response, such as atropine-containing eye drops\n* Uncontrolled intercurrent illness evaluated by medical history that would potentially increase the risk to the participant","1 Year","120 Years",{"count":121,"type":19},70,"INTERVENTIONAL",[124],"NA","Background:\n\nNeurofibromatosis type 1 (NF1) is a genetic condition that causes tumors to grow along the nerves in the skin, brain, and other parts of the body. People with NF1 often have pain and may experience other abnormal sensations like itching, numbness, or tingling. These symptoms can affect their daily life. Researchers want to learn more about these symptoms and find better ways to measure pain in people with NF1.\n\nObjective:\n\nTo learn if a device called the AlgometRx Nociometer(Registered trademark) is effective in measuring pain or other abnormal sensations in people with NF1.\n\nEligibility:\n\nPeople aged 1 year and older with NF1.\n\nDesign:\n\nIndividuals can have up to 3 assessments completed in person. Each assessment may last up to 1.0 to 1.5 hours.\n\nIndividuals will be screened. They will complete questionnaires about their health and how bad their pain is. If participants are having blood drawn for other reasons, some additional samples may be used in this study.\n\nThe AlgometRx Nociometer includes an electrode that will be placed onto a finger or a toe. The electrode will send non-painful electrical signals to activate nerves in the finger or toe. At the same time, a camera will be used to record changes in the pupil of the eye. The test will be done on all 4 of the participant s limbs; however, researchers may skip 1 or more limbs for various reasons. This test takes about 10 seconds to complete with at least a one-minute rest between testing different limbs.\n\nIndividuals will be asked to do a 2nd assessment with the AlgometRx Nociometer that may be done 1 hour later but no more than 72 hours after the first assessment. Participants who will be returning for another visit can opt to do a 3rd assessment that will be done at least 4 weeks but not more than 18 months after the 1st....",[23],[23,128,129,130,131,132,133],"Plexiform Neurofibromas","Pain","Sensation","Clinical outcomes","Objective measurement","Biomarker","2026-06-06",{"date":136,"type":28},"2026-06-09",{"date":138,"type":28},"2026-02-18",{"date":140,"type":19},"2027-05-01",{"name":142,"class":143},"National Cancer Institute (NCI)","NIH",2,{"id":146,"slug":147,"hasResults":11,"nctId":148,"briefTitle":149,"officialTitle":150,"acronym":151,"eligibilityCriteria":152,"healthyVolunteers":11,"sex":16,"minAge":153,"maxAge":4,"enrollmentInfo":154,"targetDuration":4,"studyType":122,"phases":156,"briefSummary":158,"conditions":159,"keywords":160,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":163,"lastUpdatePostDateStruct":164,"startDateStruct":166,"completionDateStruct":168,"leadSponsor":170,"locationsCount":172},"100557725","phase-2-a-phase-2-open-label-study-to-evaluate-the-safety-and-effects-of-hlx-1502-in-patients-with-neurofibromatosis-type-1-100557725","NCT06541847","A Phase 2, Open-Label Study to Evaluate the Safety and Effects of HLX-1502 in Patients With Neurofibromatosis Type 1","A Phase 2, Open-Label, Single Arm, Non-Controlled, Single-Stage Study to Evaluate the Safety and Effects of HLX-1502 in Patients With Plexiform Neurofibroma and Neurofibromatosis Type 1","INSPIRE-NF1","Inclusion Criteria:\n\n1. All participants must have a diagnosis of NF1 based on the 2021 revised consensus criteria.\n2. 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.\n3. 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 \\\u003C 3 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.\n4. Age: Participants must be ≥ 12 years of age at the time of study entry. Note: Although prior MEKi therapy is not a requirement, patients should be counseled on the availability of FDA-approved MEKi therapies prior to enrollment.\n5. Weight ≥ 42 kg.\n6. Performance Level: Participants must have a Lansky (12-15 years of age) or Karnofsky (16+ years of age) score ≥ 50%.\n7. Organ Function Requirements: Adequate Bone Marrow Function, Adequate Renal Function, Adequate Liver Function, Normal pancreatic function: amylase and lipase levels ≤ 1.5 x ULN. Blood pressure within upper limit of normal as defined below based on the average of the 2nd and 3rd of a total of 3 consecutive measurements, 5 minutes apart. Antihypertensives are permissible to achieve blood pressure within ULN, however must be on stable antihypertensive regimen with no adjustments within 14 days of enrollment.\n8. Sexually active women of childbearing potential and fertile male 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 or evidence of surgical sterility (e.g. vasectomized partner, post-hysterectomy, menopause with last menstrual period \\>=12 months prior to screening visit) are acceptable method of birth control. Persons of childbearing potential will be given a pregnancy test within 14 days prior to first dose of study treatment and must have a negative urine or serum pregnancy test.\n9. The participant is not planning to undergo surgery or other interventions\u002F treatments for the target lesion, except protocol specified therapy, for the duration of the study.\n10. The participant or the participant's legal authorized representative is able to understand the informed consent form describing the risks of the study and voluntarily signs the informed consent document.\n11. In the opinion of the investigator, the participant is willing and able to attend study visits, comply with the study procedures as specified in the protocol, and comply with the administration of the study drug.\n\nExclusion Criteria:\n\n1. Prior treatment with HLX-1502 for a PN.\n2. The participant has used any of the following systemic medications\u002F therapies within the specified period prior to enrollment: MEK-inhibitors, other drugs in the TKI class, HLX-1502, 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, Myelosuppressive chemotherapy, Hematopoietic growth factors, Biologic (anti-neoplastic agent), Investigational Drugs, Any other systemically administered anti-neoplastic agent and Radiation therapy.\n3. Evidence of an NF1-related tumor such as 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, surgery or radiation therapy.\n4. Participants with high-grade glioma, 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. If the investigator has any clinical concerns for ANNUBP\u002FAtypical Neurofibroma or MPNST, a biopsy sample must be taken prior to study confirming eligibility.\n5. Dental braces or prosthesis that interfere with volumetric analysis of the neurofibroma(s).\n6. Surgery: Any major surgery within 12 weeks before starting the Treatment Period or foreseen during participation in the trial, any minor surgeries within 1 month before first dose of study treatment and Participants must have complete wound healing from major surgery or minor surgery before the first dose of study treatment. Participants with clinically relevant ongoing complications from prior surgery are not eligible.\n7. Cataracts noted on ophthalmologic exam.\n8. Cardiovascular disorders.\n9. Other clinically significant disorders that would preclude safe study participation, including active infection, a known history of HIV seropositivity or known immunodeficiency or Known history of Hepatitis B or Hepatitis C.\n10. Participants who require treatment with a drug that is a substrate of CYP1A2, CYP2C8, UGT1A1, UGT1A3 with a narrow therapeutic index during protocol therapy.\n11. Known severe sensitivity to HLX-1502 or any excipient of HLX-1502 or history of allergic reactions attributed to compounds of similar chemical or biologic composition to HLX-1502.\n12. Known severe sensitivity to FD\\&C Yellow No. 5.\n13. Participants receiving therapeutic anticoagulation with vitamin K antagonist.\n14. Participants presently with iron deficiency and\u002For actively receiving iron replacement or requiring treatment with copper or zinc for any indication at study baseline.\n15. Pregnant or breast-feeding women.\n16. Unable or unwilling to swallow tablets.\n17. Impairment of gastrointestinal function or gastrointestinal disease that may significantly alter ingestion and\u002For the absorption of HLX-1502.\n18. Participants who have other medical, social or concurrent challenges that are likely to negatively impact their ability to meet all of the trial obligations and therefore may increase the risk of safe participation in the study.","12 Years",{"count":155,"type":19},25,[157],"PHASE2","The trial will be an open label, single arm, phase 2 study to assess the tolerability and efficacy of HLX-1502 in participants with NF1 that are 16 years or older in age with progressive and\u002For symptomatic PN. This study will also investigate the safety and efficacy of HLX-1502 in a small cohort of 12 to 15 year olds.",[23],[23,161,162],"Plexiform Neurofibroma","pediatric","2026-05-18",{"date":165,"type":28},"2026-05-19",{"date":167,"type":28},"2025-02-10",{"date":169,"type":19},"2028-01",{"name":171,"class":35},"Healx Limited",14,{"id":174,"slug":175,"hasResults":11,"nctId":176,"briefTitle":177,"officialTitle":178,"acronym":4,"eligibilityCriteria":179,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":180,"enrollmentInfo":181,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":183,"conditions":184,"keywords":185,"overallStatus":191,"whyStopped":4,"lastUpdateSubmitDate":192,"lastUpdatePostDateStruct":193,"startDateStruct":195,"completionDateStruct":197,"leadSponsor":199,"locationsCount":4},"100636356","gait-in-young-children-with-nf1-100636356","NCT07564622","Gait in Young Children With NF1","Quantitative Gait Metrics to Assess and Predict Gross Motor Impairment in Young Children With Neurofibromatosis Type 1","Inclusion Criteria:\n\n* Children who are independently ambulatory who meet revised diagnostic criteria for NF1\n* Children less than or equal to 71 months of age\n* Parent\u002FLegal Guardian willing and able to provide parental consent.\n\nExclusion Criteria:\n\n* Age ≥ 6 years old, inability to walk 10 meters independently, non-NF1 medical illness that alters their physical or neurological abilities that could significantly impact their performance.\n* Parent\u002FLegal Guardian not willing and able to provide parental consent","71 Months",{"count":182,"type":19},56,"The objective of this study is to develop office-based tools to quantify gait in young children with NF1 that reflect overall gross motor impairment and predict future gross motor difficulties.",[23],[186,187,188,189,190],"NF1","Neurofibromatosis type 1","Gait","Neurodevelopment","gross motor","NOT_YET_RECRUITING","2026-05-06",{"date":194,"type":28},"2026-05-08",{"date":196,"type":19},"2026-08",{"date":198,"type":19},"2031-01-31",{"name":200,"class":110},"NYU Langone Health",{"id":202,"slug":203,"hasResults":11,"nctId":204,"briefTitle":205,"officialTitle":205,"acronym":4,"eligibilityCriteria":206,"healthyVolunteers":11,"sex":16,"minAge":207,"maxAge":208,"enrollmentInfo":209,"targetDuration":4,"studyType":122,"phases":211,"briefSummary":212,"conditions":213,"keywords":214,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":217,"lastUpdatePostDateStruct":218,"startDateStruct":220,"completionDateStruct":222,"leadSponsor":224,"locationsCount":111},"100421079","identification-of-pre-malignant-lesions-in-pediatric-patients-with-neurofibromatosis-type-1-using-novel-magnetic-resonance-imaging-techniques-paired-with-artificial-intelligence-100421079","NCT04763109","Identification of Pre-Malignant Lesions In Pediatric Patients With Neurofibromatosis Type 1 Using Novel Magnetic Resonance Imaging Techniques Paired With Artificial Intelligence","Inclusion Criteria:\n\n* Between the ages of 5 and \\\u003C18 years at the start of study. If subject will turn 18 during the study, they will be allowed to enroll.\n* Clinically or molecularly confirmed diagnosis of NF-1. Subjects with mosaic\u002Fsegmental NF-1 also qualify for the study.\n\nExclusion Criteria:\n\n* Requiring sedation for imaging.\n* Implants and\u002For Devices: Mechanical, magnetic or electrical activated implants; Ferromagnetic implants and foreign bodies\n* Claustrophobia, problems being in enclosed spaces, or inability to lie facing upwards.\n* Allergy to animal dander or animal-instigated asthma.","5 Years","17 Years",{"count":210,"type":19},15,[124],"This is a single arm pilot trial of a novel whole-body Magnetic Resonance Imaging paired with artificial intelligence intervention, to evaluate feasibility defined as scan-rescan reliability, and to estimate the positive predictive value of changes in Magnetic Resonance Imaging scans from baseline to 12-month visit using an Artificial Intelligence algorithm, among 15 pediatric patients with neurofibromatosis type 1 at Cedars-Sinai Medical Center.",[23],[215,23,216],"Pediatric","magnetic resonance imaging","2026-05-01",{"date":219,"type":28},"2026-05-07",{"date":221,"type":28},"2022-07-08",{"date":223,"type":19},"2029-05",{"name":225,"class":110},"Nicole Baca",{"id":227,"slug":228,"hasResults":11,"nctId":229,"briefTitle":230,"officialTitle":230,"acronym":4,"eligibilityCriteria":231,"healthyVolunteers":11,"sex":16,"minAge":207,"maxAge":119,"enrollmentInfo":232,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":234,"conditions":235,"keywords":237,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":241,"lastUpdatePostDateStruct":242,"startDateStruct":244,"completionDateStruct":246,"leadSponsor":248,"locationsCount":111},"100583796","development-of-patient-reported-outcome-measures-assessing-tumor-visibility-and-appearance-concerns-in-neurofibromatosis-type-1-a-qualitative-study-100583796","NCT06880991","Development of Patient-Reported Outcome Measures Assessing Tumor Visibility and Appearance Concerns in Neurofibromatosis Type 1: A Qualitative Study","* INCLUSION CRITERIA:\n* Participants must self-report a diagnosis of NF1 OR be the caregiver of a child with NF1 (5-17 years old with plexiform neurofibroma \\[pNF\\] or 12-17 years old with cutaneous neurofibroma \\[cNF\\])\n\nThe following for the participant or the caregiver of a child, as appropriate:\n\n* Participants with NF1 must self-report a pNF and\u002For cNF tumor(s) that is visible to that individual OR others\n* Caregivers of a child with NF1 must report a pNF and\u002For cNF tumor(s) that the child has that is visible to the child OR others\n* Age requirements:\n\n  * \\>= 8 years old (participants with pNF)\n  * \\>= 12 years old (participants with cNF)\n  * \\>= 12 years old (participants with pNF and cNF)\n  * \\>= 18 years (caregivers)\n* Access to device with internet\n* Ability to understand English and comfort discussing their medical condition in English\n* The ability of adult participant or caregiver of minor participants to understand and the willingness to sign a written informed consent document\n\nEXCLUSION CRITERIA:\n\n* Physical or cognitive limitations that would prevent them from being able to participate in a focus group or interview, or unwillingness to do so\n* Since we will aim to have no less than 25 percent of participants from underrepresented\\* groups, individuals from represented groups may not be able to participate after we have reached the maximum target for represented groups. Consistent with best practices for scale development and validation, this will help ensure that the measures are appropriate for people from a variety of backgrounds.\n\n  \\* Underrepresented groups are defined as people who identify as African American or Black, American Indian, Alaska Native, Hispanic\u002FLatine, Native Hawaiian, and other Pacific Islander.\n* If saturation has been met within a particular age group, potential participants from that completed age group will no longer be eligible.",{"count":233,"type":19},110,"Background:\n\nNeurofibromatosis 1 (NF1) is a disease that causes tumors to grow along the nerves. These include plexiform neurofibromas (pNF) and cutaneous neurofibromas (cNF). Both pNF and cNF can be visible to other people. These tumors can affect a person s appearance and quality of life. Researchers want to be able to assess changes in appearance before and after treatment for NF1 tumors.\n\nObjective:\n\nTo see if two questionnaires can help assess people s ratings about the appearance of their pNF and cNF tumors.\n\nEligibility:\n\nPeople aged 8 years and older with pNF and people 12 years and older either with cNF or both pNF and cNF. Adult caregivers of children with pNF and cNF are also needed.\n\nDesign:\n\nParticipants will complete questionnaires on paper or by phone, computer, or tablet. They will answer questions about how they look, how they feel, and how they feel about the way they look.\n\nParticipants will meet in at least 1 remote focus group or individual interview. The meeting will last about 1 hour. Each group will include 3 to 5 people, organized by age: 8 to 11 years, 12 to 17 years, 18 to 29 years, and over 30 years. Adult caregivers will meet in a group with other caregivers.\n\nThey will discuss their NF1 symptoms; how their tumors look; how they feel about the way their tumors look; and their daily activities. They will give their opinions about 2 questionnaires about appearance.\n\nThe group and individual meetings will be audio-recorded and transcribed. Information that can reveal individual identities will be removed.",[23,236],"Neurofibroma",[238,239,240],"Qualitative","Focus Groups","Instrument Development","2026-04-28",{"date":243,"type":28},"2026-04-29",{"date":245,"type":28},"2025-04-29",{"date":247,"type":19},"2028-03-31",{"name":142,"class":143},{"id":250,"slug":251,"hasResults":11,"nctId":252,"briefTitle":253,"officialTitle":254,"acronym":255,"eligibilityCriteria":256,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":257,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":259,"conditions":260,"keywords":4,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":269,"lastUpdatePostDateStruct":270,"startDateStruct":272,"completionDateStruct":274,"leadSponsor":276,"locationsCount":210},"100512589","fard-radico-cohort-radico-fard-100512589","NCT05954416","FARD (RaDiCo Cohort) (RaDiCo-FARD)","National Cohort for Evaluation of the Burden of Rare Skin Diseases","FARD","Inclusion criteria :\n\n* adults or children with a confirmed diagnosis of one of the 9 following rare skin disease: Inherited epidermolysis bullosa, Ichthyosis, Ectodermal dysplasia, Incontinetia Pigmenti, Neurofibromatosis type 1, Albinism, Pemphigus, Mucous membrane pemphigoid or Palmoplantar keratoderma.\n* prevalent or incident and followed in one the reference\u002Fcompetence centers of the FIMARAD healthcare network,\n* able to understand a survey (for child, survey should be understood by parents),\n* having given their signed consent to participate to the cohort RaDiCo-FARD (parents' consent for child).\n\nNon-inclusion criteria :\n\n* Patients, for whom regular care follow-up is not feasible with the FIMARAD healthcare network sites,\n* Unconfirmed diagnosis (according to criteria for each disease),\n* Patients (and\u002For parents) not able to understand a survey\n* Patients (and\u002For parents) not having given their signed consent to participate to the study",{"count":258,"type":19},900,"The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and\u002For families.\n\nTwo types of indicators will be used to reach this objective :\n\n1. an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and\u002For their family themselves in self-assessment.\n2. a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.",[261,262,263,264,23,265,266,267,268],"Inherited Epidermolysis Bullosa","Ichthyosis","Ectodermal Dysplasia","Incontinentia Pigmenti","Albinism","Pemphigus","Mucous Membrane Pemphigoid","Palmoplantar Keratoderma","2026-02-10",{"date":271,"type":28},"2026-02-12",{"date":273,"type":28},"2018-03-07",{"date":275,"type":19},"2027-03-07",{"name":277,"class":278},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",{"id":280,"slug":281,"hasResults":11,"nctId":282,"briefTitle":283,"officialTitle":284,"acronym":285,"eligibilityCriteria":286,"healthyVolunteers":11,"sex":16,"minAge":287,"maxAge":4,"enrollmentInfo":288,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":290,"conditions":291,"keywords":296,"overallStatus":24,"whyStopped":4,"lastUpdateSubmitDate":300,"lastUpdatePostDateStruct":301,"startDateStruct":303,"completionDateStruct":305,"leadSponsor":307,"locationsCount":111},"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","18 Years",{"count":289,"type":19},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.",[23,292,161,128,293,294,295],"Neurofibromatosis 1","Malignant Peripheral Nerve Sheath Tumor","Malignant Peripheral Nerve Sheath Tumors","Atypical Neurofibroma",[297,298,299],"Liquid biopsy","Cancer surveillance","Tumor early detection","2026-01-08",{"date":302,"type":28},"2026-01-09",{"date":304,"type":28},"2024-08-07",{"date":306,"type":19},"2030-07",{"name":308,"class":110},"David Miller"]