[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"neurofibromatosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:neurofibromatosis":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,44,66,102],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":4,"leadSponsor":40,"locationsCount":43},"100102587","natural-history-study-of-patients-with-neurofibromatosis-type-2-100102587",false,"NCT00598351","Natural History Study of Patients With Neurofibromatosis Type 2","A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2).","* INCLUSION CRITERIA:\n\nTo be eligible for entry into the study, candidates must meet all the following criteria:\n\n* Have the diagnosis of NF2 by established clinical criteria or genetic testing.\n* Be between the age of 8 and 75.\n* Have the capacity to undergo serial MRI scanning of the CNS without IV sedation.\n* Able to give informed consent, or have a parent able to provide informed consent if a child.\n\nEXCLUSION CRITERIA:\n\nCandidates will be excluded if they:\n\n* Have a clinically unstable condition that precludes serial clinical and imaging evaluation (i.e. Class 3 congestive heart failure, severe chronic renal insufficiency, severe chronic obstructive pulmonary disease).\n* Cannot have an MRI scan due to an allergy or relative contraindication to MRI contrast agents, prior surgery or implant that involves metal clips or wires, which might be expected to cause tissue damage or produce image artifacts such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, and artificial heart valves.\n* ABIs or cochlear implants are not approved by the NIH Radiology department for safe use on NIH scanners..\n* Have severe chronic renal insufficiency (glomerular filtration rate less than 30 mL\u002Fmin\u002F1.73 m2), hepatorenal syndrome or post-liver transplantation.\n* Are pregnant at time of intake visit (women of childbearing age will be tested with a urine pregnancy test).","ALL","8 Years","75 Years",{"count":20,"type":21},269,"ESTIMATED","OBSERVATIONAL","Objective\n\nWith this prospective natural experiment trial on neurofibromatosis type 2 (NF2) study, we hope to understand the factors leading to tumor progression and neurological disease burden in NF2.\n\nStudy Population\n\nA total of 269 participants, ages 8-75, with a clinical or genetic diagnosis of NF2 will participate in this study.\n\nDesign\n\nStudy participants will be evaluated with a thorough physical and neurologic examination upon enrollment. This initial outpatient evaluation will include magnetic resonance imaging with contrast of brain and spine and blood collection for research use. Participants with measurable hearing will have audiology assessment performed. Participants with untreated vestibular schwannomas will have vestibular assessment performed during the initial visit. Genetic studies performed outside will be acceptable as confirmation of NF2 in enrolled patients. If needed to confirm NF2 with genetic studies, or for research purpose, whole genome\u002Fwhole exome sequencing may be performed on blood obtained from subjects enrolled in this study. All participants will be evaluated by a speech language pathologist.\n\nSubjects will be followed as outpatients for up to ten years, during which clinical, and radiologic evaluation will be performed annually. Auditory testing will be performed annually for participants with measurable hearing. Participants with initially untreated vestibular schwannomas will be followed annually with vestibular testing. Speech and swallowing reassessments will be repeated if worsening of speech or swallowing is reported. Blood will be collected at each visit for blood biomarker testing\n\nOutcome measures\n\nWe hope to understand the biologic basis for speech and swallowing dysfunction in patients with NF2. We will study and report the strength of association of MRI findings, clinical assessments cranial nerve deficits and speech\u002Fswallowing dysfunction. We hope to\n\nidentify imaging biomarkers of hearing loss in NF2. We will attempt to discover the mode of peripheral neuropathy in patients with NF2. Lastly, we will attempt to discover previously unknown serum biomarkers associated with high tumor burden in NF2.\n\n...",[25],"Neurofibromatosis",[27,28,29,30,31,32],"Meningioma","Ependymoma","Schwannoma","Spinal Cord Tumor","Vestibular Schwannoma","Natural History","RECRUITING","2026-06-23",{"date":36,"type":37},"2026-06-24","ACTUAL",{"date":39,"type":37},"2008-03-21",{"name":41,"class":42},"National Institute of Neurological Disorders and Stroke (NINDS)","NIH",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":50,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":54,"conditions":55,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":56,"lastUpdatePostDateStruct":57,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":65},"100599784","clinical-and-demographic-characteristics-of-adult-p-atients-with-neurofibromatosis-in-russia-100599784","NCT07088991","Clinical and Demographic Characteristics of Adult p Atients With NEurofibromatosis in RUSsia","Clinical and Demographic Characteristics of Adult Patients With NEurofibromatosis in RUSsia","NEREUS","Inclusion Criteria:\n\n1. Age ≥ 18 years at the time of inclusion.\n2. Signed and dated written informed consent in accordance with ICH-GCP and local law prior to inclusion in the study.\n3. NF1 diagnosed (according to the international consensus criteria for evaluating NF1 \\[18\\]), see Appendix A.\n4. Confirmed PN by clinical assessment, USI, MRI, biopsy; one method is sufficient (histologic confirmation of PN is not necessary in the presence of radiographic findings).\n5. Existing of PN-associated symptoms.\n6. Adult patients (≥18 years) with newly diagnosed PN or established PN naïve to MEK-inhibitor therapy verified by medical records\u002Fhistories (e.g., prior prescriptions, hospitalization data).\n\nExclusion Criteria:\n\n1. The participation in any clinical study currently (patients participating in other non-interventional studies may be included);\n2. Patients with the evidence of a malignant glioma, malignant peripheral nerve sheath tumor, or other cancer, requiring treatment with chemotherapy or radiation therapy.\n3. In the opinion of the investigator the patient is not able to return for follow-up visits or obtain required follow-up studies.\n4. Individuals who are pregnant or breast feeding or who become pregnant while enrolled on this trial, if they are unable to undergo radiographic evaluations or MRI scans requested for research purposes, or other studies which might negatively impact on the pregnancy.\n5. Prior receipt of any MEK-inhibitor for PN therapy within 4 months before screening or initiation of therapy prior to age 18 verified by medical records\u002Fhistories (e.g., prior prescriptions, hospitalization data).\n6. Patients who modify their index pathogenetic therapy regimen during the study (for example, pathogenetic antitumor therapy of PN; switching to a different therapy), as determined by the investigator at any protocol-specified visit during the a study, will be excluded from the primary efficacy analysis population from the point of modification onward and will not continue study participation.",{"count":53,"type":21},200,"Clinical and Demographic Characteristics of Adult Patients with NEurofibromatosis in RUSsia (NEREUS)",[25],"2026-06-19",{"date":34,"type":37},{"date":59,"type":37},"2025-06-06",{"date":61,"type":21},"2028-03-31",{"name":63,"class":64},"AstraZeneca","INDUSTRY",14,{"id":67,"slug":68,"hasResults":11,"nctId":69,"briefTitle":70,"officialTitle":70,"acronym":4,"eligibilityCriteria":71,"healthyVolunteers":11,"sex":16,"minAge":72,"maxAge":4,"enrollmentInfo":73,"targetDuration":4,"studyType":75,"phases":76,"briefSummary":78,"conditions":79,"keywords":85,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":93,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":43},"100600815","phase-1-feasibility-and-tolerability-of-imlygic-for-the-treatment-of-cutaneous-neurofibromas-in-adults-with-nf1-100600815","NCT07102394","Feasibility and Tolerability of IMLYGIC for the Treatment of Cutaneous Neurofibromas in Adults With NF1","Inclusion Criteria:\n\n* Males or females age ≥ 18 years who meet the NIH clinical criteria for the diagnosis of NF1\n* Must have ≥8 measureable cNFs. Histologic confirmation of tumor is not necessary in the presence of consistent clinical findings or confirmed genetic testing. A Measurable cNF is defined as a cutaneous lesion that meets these criteria:\n* Singular lesion surrounded by uninvolved skin measuring ≥ 5 mm in the longest diameter but not larger than 5 cm\n\n  1. Not covered by hair\n  2. There is no skin breakdown in the tumor or the skin around it\n  3. Not located in an area that is prone to irritation or trauma.\n  4. A tumor that has not received other therapies such as electrodessication, laser treatment, or prior resection or biopsy.\n  5. Diffusely infiltrating cutaneous neurofibromas, subcutaneous neurofibromas, and plexiform neurofibromas are NOT eligible for treatment as photographic assessments and measurements with calipers or ruler are not possible or reliable.\n  6. Participants must have 6 cNFs that are amenable for excision.\n  7. Participants must be willing to undergo pre- and post-treatment tumor excisions providing fresh tumor tissue; there should be no contraindication for serial biopsies.\n* Karnofsky performance level of ≥ 80%.\n* Adequate organ and bone marrow and other organ function as defined by the following Screening laboratory values:\n\n  1. Absolute neutrophil count ≥ 1,500 cells\u002FµL;\n  2. Platelets ≥ 100 x 103\u002FµL;\n  3. Hemoglobin ≥ 9.5 g\u002FdL;\n  4. Serum albumin ≥ 2.8 g\u002FdL;\n  5. Calculated creatinine clearance at Screening ≥ 60 mL\u002Fmin (by Cockcroft-Gault formula) OR a normal serum creatinine.\n  6. Alanine aminotransferase (ALT) ≤ 2x upper limit of institutional norm\n  7. Total bilirubin value of ≤1.5 x Upper Limit of Normal (ULN) (isolated bilirubin ≥1.5 x ULN is acceptable if bilirubin is fractionated and direct bilirubin \\\u003C35%)\n* Participant is willing and able to comply with all aspects of the protocol\n* Ability to understand and willingness to sign written informed consent document(s).\n* Women of childbearing potential (WOCBP) must not be pregnant or breastfeeding during any portion of the study and must use an adequate method to prevent pregnancy during the study period and for 3 months after treatment conclusion and agree not to donate eggs (ova, oocytes) for the purpose of reproduction during the study and for a period of 3 months after last dose of study treatment. The Investigator should evaluate the effectiveness of the contraceptive method in relationship to the first dose of study treatment (see the Approved Methods of birth control listed below).\n* For a woman to be determined not of childbearing potential, she must have ≥ 12 months of non-therapy-induced amenorrhea or be surgically or medically sterile.\n* WOCBP must have a negative serum pregnancy test result at Screening and a negative urine pregnancy test result at the Baseline visit prior to the first dose of study treatment if the Screening Day serum test was done more than 28 days prior.\n* Male participants are eligible to participate if agreed to the following during the treatment period and for at least 90 days after the last dose of study treatment:\n\n  \\-- Refrain from donating sperm\n* PLUS, either:\n\n  * Be abstinent from heterosexual intercourse and agree to remain abstinent until 90 days after the last study drug treatment; OR\n  * Must agree to use a male condom when having sexual intercourse with a WOCBP and their female partner must utilize one the approved methods of birth control below:\n* Approved Methods of birth control for this study are:\n\n  * Total abstinence\n  * Male or female sterilization (vasectomy in males or surgical removal of ovaries or uterus in females)\n  * Unsterilized male study participants must use a male condom, and their female partner must use one of the methods below:\n  * Unsterilized female study participants must use one of the following highly effective methods listed below:\n* Acceptable birth control methods which are considered highly effective if methods result in a failure rate of less than 1% per year when used consistently and correctly:\n* Combined (estrogen and progestogen containing) hormonal contraceptive that stops the release of eggs from the ovary (oral, intravaginal, or transdermal)\n* Progestogen-only hormonal contraception that stops the release of eggs from the ovary (oral, injectable, implantable)\n* Intrauterine device (IUD)\n* Intrauterine hormone-releasing system (IUS)\n* Bilateral tubal occlusion or bilateral tubal ligation\n\nExclusion Criteria:\n\n* Any underlying medical condition, which in the opinion of the investigator, would make administration of the study drug hazardous or make it difficult to monitor adverse effects.\n* Evidence of immunosuppression for any reason:\n\n  1. Known HIV infection or AIDS\n  2. Acute or chronic active hepatitis B or hepatitis C infection\n  3. Chronic oral or systemic steroid medication use at a dose of \\>10 mg\u002Fday of prednisone or equivalent (steroids with low systemic absorption \\[e.g., triamcinolone hexacetonide\\] is allowed)\n  4. Other signs or symptoms of clinical immune system suppression\n* Open herpetic skin lesions\n* Any anti-herpetic treatment within the last 4 weeks prior to trial participation\n* Require intermittent or chronic treatment with an anti-herpetic drug (e.g., acyclovir, valacyclovir, famciclovir, any other antiviral medications), other than intermittent topical use\n* One year since the last treatment for any cancer, and not requiring any ongoing secondary prevention, except for basal cell or squamous epithelial carcinomas of the skin that have been resected with no evidence of metastatic disease for 3 years.\n* Patients who have had chemotherapy or radiation therapy must have recovered normal organ function as defined above; people who had excisions of basal cell or squamous cell carcinoma, must have healed and the scars must be at least 3 cm away from any cNF being monitored or treated.\n* Active optic glioma or other low-grade glioma or plexiform neurofibroma requiring treatment. a. Participants not requiring treatment are eligible.\n* Ophthalmological findings secondary to long-standing optic pathway glioma (such as visual loss, optic nerve pallor or strabismus) or long-standing orbito-temporal Plexiform Neurofibroma (PN) (such as visual loss, strabismus) are eligible\n* Patients with marked baseline prolongation of QT\u002FQTc interval (QTc interval \\>470 msec) must be excluded.\n* Previous treatment with IMLYGIC or treatment with Granulocyte-macrophage colony-stimulating factor (GM-CSF)\n* Currently receiving therapy with a Mitogen-Activated Protein Kinase (MEK) inhibitor or treated with a MEK inhibitor in the 6 months prior to the first dose of study treatment.\n* Pregnant or breastfeeding women may not take study drug.\n* Current enrollment or past participation in any other clinical study (excluding observational studies) within 30 days of the first dose of study treatment.\n* Known sensitivity to the study treatment, or components thereof, or drug or other allergy that, could compromise safety of the subject\n* Participants are excluded if they have severe and\u002For uncontrolled medical disease or social situation, which could compromise participation in the study (e.g., uncontrolled diabetes, uncontrolled hypertension, severe infection, severe malnutrition, chronic liver or renal disease, active upper GI tract ulceration, congestive heart failure, drug or alcohol dependence, etc.).","18 Years",{"count":74,"type":21},10,"INTERVENTIONAL",[77],"PHASE1","This study is designed to establish the foundation for a new therapy for neurofibromatosis Type I (NF1)-related cutaneous neurofibromas (cNFs) by assessing the feasibility and efficacy of IMLYGIC in adults with NF1 and cNFs who desire local treatment of their cNF due to disfigurement, progression, pain, itching or other concerns. This is a single institutional Phase 1 study with a safety run-in to assess the feasibility and efficacy of IMLYGIC monotherapy in NF1 patients with cNFs. Each 28-day treatment cycle will be defined as intralesional administration of IMLYGIC administered on day 1 and 21 of Cycle 1 and days 7 and 21 for Cycles 2-4 for up to 4 cycles.",[80,25,81,82,83,84],"NF1","Cutaneous Neurofibroma","Neurofibroma","Von Recklinghausen Disease","Neurofibromas",[80,86,87,88,89,90,91],"neurofibromatosis","cutaneous neurofibroma","IMLYGIC","T-VEC","Neurofibromatosis type 1","neurofibroma","2026-05-07",{"date":94,"type":37},"2026-05-08",{"date":96,"type":37},"2026-02-01",{"date":98,"type":21},"2027-12-31",{"name":100,"class":101},"Johns Hopkins University","OTHER",{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":107,"acronym":108,"eligibilityCriteria":109,"healthyVolunteers":11,"sex":16,"minAge":72,"maxAge":4,"enrollmentInfo":110,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":112,"conditions":113,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":146,"lastUpdatePostDateStruct":147,"startDateStruct":149,"completionDateStruct":151,"leadSponsor":153,"locationsCount":43},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None",{"count":111,"type":21},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[114,115,116,117,118,119,120,121,122,123,124,125,126,25,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Tuberous Sclerosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","Rett Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","2023-09-04",{"date":148,"type":37},"2023-09-06",{"date":150,"type":37},"2018-10-01",{"date":152,"type":21},"2030-01-01",{"name":154,"class":101},"dr. Laura C. G. de Graaff-Herder"]