[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"von-hippel-lindau-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:von-hippel-lindau-disease":60},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,13,0,[8,48,71,93,167,202,232,284,318,354,383,407,435],{"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":24,"conditions":25,"keywords":31,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":47},"100433434","phase-2-belzutifanmk-6482-for-the-treatment-of-advanced-pheochromocytomaparaganglioma-ppgl-pancreatic-neuroendocrine-tumor-pnet-von-hippel-lindau-vhl-disease-associated-tumors-advanced-gastrointestinal-stromal-tumor-wt-gist-or-solid-tumors-with-hif-2-related-genetic-alterations-mk-6482-015-100433434",false,"NCT04924075","Belzutifan\u002FMK-6482 for the Treatment of Advanced Pheochromocytoma\u002FParaganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)","A Phase 2 Study to Evaluate the Efficacy and Safety of Belzutifan (MK-6482, Formerly PT2977) Monotherapy in Participants With Advanced Pheochromocytoma\u002FParaganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Advanced Solid Tumors With HIF-2α Related Genetic Alterations","The main inclusion criteria include but are not limited to the following:\n\n* Male and female participants at least 12 years of age (at least 18 years of age for Cohort B1)\n* Diagnosis of one of the following: Advanced\u002Fmetastatic pheochromocytoma\u002Fparaganglioma (PPGL), pancreatic neuroendocrine tumors (pNET), von Hippel-Lindau (VHL) disease associated localized tumors, or advanced wild-type gastrointestinal stromal tumor (wt GIST) or advanced solid tumors with Hypoxia Inducible Factor- 2 alpha subunit (HIF-2α) related genetic alterations\n* Cohort B1: VHL Disease-associated tumors:\n\n  * Have a diagnosis of VHL disease as determined by a germline test locally and\u002For clinical diagnosis\n  * Must be ≥18 years of age\n* Has a life expectancy of at least 3 months\n\nThe main exclusion criteria include but are not limited to the following:\n\n* Unable to swallow orally administered medication or has a disorder that might affect the absorption of belzutifan\n* History of a second malignancy, unless potentially curative treatment has been completed with no evidence of malignancy for 2 years\n* Any of the following: A pulse oximeter reading \\\u003C92% at rest, or requires intermittent supplemental oxygen, or requires chronic supplemental oxygen\n* Clinically significant cardiac disease, including unstable angina, acute myocardial infarction, or arterial bypass (CABG) or Percutaneous transluminal coronary angioplasty (PTCA) ≤6 months from study entry, or New York Heart Association Class III or IV congestive heart failure\n* Received prior treatment (except somatostatin analogs) with chemotherapy, targeted therapy, biologics, or other investigational therapy within the past 4 weeks of first dose of study intervention","ALL","12 Years",{"count":19,"type":20},355,"ESTIMATED","INTERVENTIONAL",[23],"PHASE2","This is a study to evaluate the efficacy and safety of belzutifan monotherapy in participants with advanced pheochromocytoma\u002Fparaganglioma (PPGL), pancreatic neuroendocrine tumor (pNET), von Hippel-Lindau (VHL) disease-associated tumors, advanced wt (wild-type) gastrointestinal stromal tumor (wt GIST), or advanced solid tumors with hypoxia inducible factor-2 alpha (HIF-2α) related genetic alterations. The primary objective of the study is to evaluate the objective response rate (ORR) of belzutifan per response evaluation criteria in solid tumors version 1.1 (RECIST 1.1) by blinded independent central review (BICR).",[26,27,28,29,30],"Pheochromocytoma\u002FParaganglioma","Pancreatic Neuroendocrine Tumor","Von Hippel-Lindau Disease","Advanced Gastrointestinal Stromal Tumor","HIF-2α Mutated Cancers",[32,33,34],"HIF-2α","Pheochromocytoma\u002Fparaganglioma","Pancreatic NET","RECRUITING","2026-06-24",{"date":38,"type":39},"2026-06-26","ACTUAL",{"date":41,"type":39},"2021-08-12",{"date":43,"type":20},"2029-12-27",{"name":45,"class":46},"Merck Sharp & Dohme LLC","INDUSTRY",84,{"id":49,"slug":50,"hasResults":11,"nctId":51,"briefTitle":52,"officialTitle":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":54,"maxAge":4,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":58,"conditions":59,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":70},"100512635","data-collection-protocol-for-patients-with-von-hippel-lindau-disease-100512635","NCT05955014","Data Collection Protocol for Patients With Von Hippel Lindau Disease","Inclusion Criteria:\n\n* Presence of genetic confirmation or clinical criteria consistent with vHL disease.\n* Ability to understand and the willingness to sign a written informed consent document.\n\nExclusion Criteria:\n\n• Patients with psychiatric illness\u002Fsocial situations that would limit compliance with study requirements.","18 Years",{"count":56,"type":20},125,"OBSERVATIONAL","To collect information from patients with vHL disease. Information collected will include data on the status of the disease, any surgeries or therapies patients have received for vHL disease, and quality of life.",[60],"Von Hippel Lindau Disease","2026-06-23",{"date":38,"type":39},{"date":64,"type":39},"2023-08-24",{"date":66,"type":20},"2026-12-31",{"name":68,"class":69},"M.D. Anderson Cancer Center","OTHER",1,{"id":72,"slug":73,"hasResults":11,"nctId":74,"briefTitle":75,"officialTitle":76,"acronym":4,"eligibilityCriteria":77,"healthyVolunteers":11,"sex":16,"minAge":54,"maxAge":4,"enrollmentInfo":78,"targetDuration":4,"studyType":21,"phases":80,"briefSummary":82,"conditions":83,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":85,"lastUpdatePostDateStruct":86,"startDateStruct":87,"completionDateStruct":89,"leadSponsor":91,"locationsCount":92},"100624094","phase-3-extension-study-for-participants-in-studies-that-include-belzutifan-mk-6482-043litespark-043-100624094","NCT07405164","Extension Study for Participants in Studies That Include Belzutifan (MK-6482-043\u002FLITESPARK-043)","A Multicenter, Open-label, Phase 3 Extension Study to Evaluate the Long-term Efficacy and Safety in Participants Who Are Currently on Treatment in a Belzutifan Study (LITESPARK-043)","Inclusion Criteria:\n\nThe main inclusion criteria include but are not limited to the following:\n\n* Participants with advanced solid tumors or von Hippel-Lindau-related neoplasms who are participating in belzutifan-containing studies and on active treatment in a belzutifan parent study.\n\nExclusion Criteria:\n\nThe main exclusion criteria include but are not limited to the following:\n\n* Has an on-going serious adverse event in the parent study, unless no longer hospitalized and considered clinically stable.\n* Is currently on a dose interruption due to an Adverse Event (AE) in the parent study; once treatment has been resumed in the parent study, the participant is eligible to enroll.",{"count":79,"type":20},450,[81],"PHASE3","Researchers are looking for new ways to treat advanced solid tumors and von Hippel-Lindau (VHL)-related tumors:\n\n* Advanced means the cancer has spread to other parts of the body (metastatic) or cannot be removed with surgery\n* Solid tumors are cancers mostly in body organs and tissues, not in the blood or other body liquids\n* VHL-related tumors are tumors caused by VHL disease. VHL disease is passed down from parents to children and people with VHL disease have a higher chance of getting certain types of cancer\n\nResearchers want to learn about the long-term effects of a trial medicine called belzutifan. Belzutifan, also called MK-6482, is designed to block a protein that helps tumors grow and survive. This is an extension trial, which means only people who were in certain other belzutifan trials (called parent trials) may be able to join. The goal of this trial is to learn how long people live after they start taking belzutifan.",[28,84],"Carcinoma, Renal Cell","2026-06-18",{"date":61,"type":39},{"date":88,"type":39},"2026-03-23",{"date":90,"type":20},"2034-01-14",{"name":45,"class":46},27,{"id":94,"slug":95,"hasResults":11,"nctId":96,"briefTitle":97,"officialTitle":97,"acronym":98,"eligibilityCriteria":99,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":100,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":102,"conditions":103,"keywords":148,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":158,"lastUpdatePostDateStruct":159,"startDateStruct":161,"completionDateStruct":163,"leadSponsor":165,"locationsCount":70},"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":101,"type":20},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.",[104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,26,142,143,144,145,146,147,28],"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 1","Neurofibromatosis Type II","Nevoid Basal Cell Carcinoma Syndrome","Non Hodgkin Lymphoma","Noonan Syndrome and Other Rasopathy","Overgrowth Syndromes","Pancreatic Cancer","Peutz-Jeghers Syndrome","PTEN Hamartoma Tumor Syndrome","Retinoblastoma","Rhabdoid Tumor Predisposition Syndrome","Rhabdomyosarcoma","Rothmund-Thomson Syndrome","Tuberous Sclerosis",[149,150,151,152,153,154,155,156,157],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","2026-06-15",{"date":160,"type":39},"2026-06-17",{"date":162,"type":39},"2017-04-06",{"date":164,"type":20},"2037-03-31",{"name":166,"class":69},"St. Jude Children's Research Hospital",{"id":168,"slug":169,"hasResults":11,"nctId":170,"briefTitle":171,"officialTitle":172,"acronym":4,"eligibilityCriteria":173,"healthyVolunteers":174,"sex":16,"minAge":54,"maxAge":4,"enrollmentInfo":175,"targetDuration":4,"studyType":21,"phases":177,"briefSummary":179,"conditions":180,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":193,"lastUpdatePostDateStruct":194,"startDateStruct":196,"completionDateStruct":198,"leadSponsor":200,"locationsCount":70},"100635787","18f-t2-petct-imaging-for-caix-positive-solid-tumors-100635787","NCT07557225","18F-T2 PET\u002FCT Imaging for CAIX Positive Solid Tumors","Evaluation of Diagnostic Value of 18F-T2 PET\u002F CT Imaging for Tumors Likely to Express High Levels of CAIX","Inclusion Criteria:\n\nAll participants must meet the following criteria:\n\n1. Written and voluntarily given Informed Consent.\n2. Male or female ≥18 years of age at time of consent.\n3. Have the capacity to understand the study and be willing and able to comply with all protocol requirements.\n4. Participants with histologically confirmed or suspected tumors of the following types, but not limited to:\n\nClear Cell Renal Cell Cancer; Urothelial Carcinoma; Colorectal Cancer; Cervical Cancer; Ovarian Cancer; Head and Neck Cancer; Hepatocellular Carcinoma; Cholangiocarcinoma; Non Small Cell Lung Cancer; Small Cell Lung Cancer; Breast Cancer; Pancreatic Cancer; Endometrial Cancer; Von Hippel Lindau Disease.\n\nExclusion Criteria:\n\nParticipants will be excluded from participation in the study if one or more of the following criteria are met:\n\n1. Have any serious non-malignant disease (e.g., psychiatric, infectious, autoimmune or metabolic) that may interfere with the objectives of the study or with the safety or compliance of the participant, as judged by the Investigator.\n2. Have a mental impairment that may compromise the ability to give Informed Consent and comply with the requirements of the study.\n3. Be a female who is pregnant or breastfeeding.",true,{"count":176,"type":20},200,[178],"NA","The goal of this clinical trial is to evaluate the diagnostic value of CAIX protein specific probe 18F-T2 in PET\u002FCT imaging in participants with solid tumors. It will also assess the safety, tolerability and radiation dosimetry of 18F-T2.",[181,182,183,184,185,186,187,188,189,190,191,140,192,60],"Clear Cell Renal Cell Cancer (ccRCC)","Urothelial Carcinoma (UC)","Colorectal Cancer","Cervical Cancer","Ovarian Cancer","Head and Neck Cancer","Hepatocellular Carcinoma (HCC)","Cholangiocarcinoma","Non Small Cell Lung Cancer","Small Cell Lung Cancer","Breast Cancer","Endometrial Cancer","2026-05-12",{"date":195,"type":39},"2026-05-14",{"date":197,"type":39},"2026-04-27",{"date":199,"type":20},"2029-03",{"name":201,"class":69},"Peking University First Hospital",{"id":203,"slug":204,"hasResults":11,"nctId":205,"briefTitle":206,"officialTitle":207,"acronym":4,"eligibilityCriteria":208,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":209,"targetDuration":4,"studyType":21,"phases":211,"briefSummary":212,"conditions":213,"keywords":216,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":222,"lastUpdatePostDateStruct":223,"startDateStruct":225,"completionDateStruct":227,"leadSponsor":229,"locationsCount":70},"100368194","phase-2-natural-history-and-management-of-von-hippel-lindau-vhl-associated-pancreatic-neuroendocrine-tumors-100368194","NCT04074135","Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors","Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors","* INCLUSION CRITIERIA:\n\n  1. Participants who have been diagnosed with VHL using the following criteria:\n\n     \\-- Identification of a heterozygous germline pathogenic variant in VHL by molecular genetic testing.\n\n     or\n\n     \\-- Clinical criteria\n  2. Participants with at least 1 pancreatic manifestation of VHL as documented on any non-invasive imaging study. These manifestations may include:\n\n     * Pancreatic cyst(s)\n     * Solid lesions suspicious for microcystic adenoma(s)\n     * Solid enhancing lesions suspicious for PNET(s)\n     * Any other solid lesion(s) of the pancreas\n  3. Age greater than or equal to 12 years.\n  4. Ability of participant to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\n1\\. Inability of participant to undergo serial non-invasive imaging.",{"count":210,"type":20},740,[23],"Background:\n\nPeople with von Hippel-Lindau (VHL) can have problems with a variety of organs, such as the pancreas. The disease can cause tumors of the pancreas. This can result in life-threatening complications. Researchers want to learn more about these pancreatic tumors and how to better detect them. This may help them design better future treatment and care for people with VHL disease.\n\nObjective:\n\nTo better understand VHL disease that affects the pancreas and to test whether adding a certain type of scan (68-Gallium DOTATATE PET\u002FCT) can further detect tumors.\n\nEligibility:\n\nPeople ages 12 and older with VHL that causes tumors and cysts to grow in the pancreas\n\nDesign:\n\nParticipants will be screened with their medical records and imaging studies.\n\nParticipants will have an initial evaluation:\n\nParticipants will have their body examined by different doctors. This will depend on what types of symptoms they have.\n\nParticipants will have blood and urine tests\n\nParticipants will have images made of their body using one or more machines: They made have a CT or PET\u002FCT scan in which they lie on a table that moves through a big ring. They may have an MRI in which they lie on a table that moves into a big tube. They may have an ultrasound that uses a small stick that produces sound waves to look at the body.\n\nAfter the first visit, participants will be asked to return to the NIH. Some of the tests performed at the first visit will be repeated. Depending on their disease status, visits will be once a year or every 2 years for life.",[214,28,215],"VHL Pancreatic Neuroendocrine Tumors","Neuroendocrine Tumors",[217,218,219,220,221],"Pancreatic tumors","68-Gallium DOTATATE","MEN1 syndrome","NETest","PNET","2026-04-17",{"date":224,"type":39},"2026-04-20",{"date":226,"type":39},"2020-06-02",{"date":228,"type":20},"2036-07-01",{"name":230,"class":231},"National Cancer Institute (NCI)","NIH",{"id":233,"slug":234,"hasResults":11,"nctId":235,"briefTitle":236,"officialTitle":237,"acronym":4,"eligibilityCriteria":238,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":239,"targetDuration":241,"studyType":57,"phases":4,"briefSummary":242,"conditions":243,"keywords":269,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":275,"lastUpdatePostDateStruct":276,"startDateStruct":278,"completionDateStruct":280,"leadSponsor":282,"locationsCount":70},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":240,"type":20},380,"10 Years","The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[244,245,246,247,248,249,28,250,251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266,267,268],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Vascular Anomalies","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[270,271,272,247,273,274,28,250,251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266,268],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":277,"type":39},"2026-01-14",{"date":279,"type":39},"2024-07-01",{"date":281,"type":20},"2034-12-31",{"name":283,"class":69},"Hospital Italiano de Buenos Aires",{"id":285,"slug":286,"hasResults":11,"nctId":287,"briefTitle":288,"officialTitle":289,"acronym":290,"eligibilityCriteria":291,"healthyVolunteers":11,"sex":16,"minAge":292,"maxAge":4,"enrollmentInfo":293,"targetDuration":4,"studyType":21,"phases":295,"briefSummary":296,"conditions":297,"keywords":303,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":309,"lastUpdatePostDateStruct":310,"startDateStruct":312,"completionDateStruct":314,"leadSponsor":316,"locationsCount":70},"100605808","phase-2-real-world-effectiveness-and-pharmacogenetics-of-belzutifan-in-vhl-syndrome-the-believe-vhl-trial-100605808","NCT07167329","Real-World Effectiveness and Pharmacogenetics of Belzutifan in VHL Syndrome: The BELIEVE-VHL Trial","The BELIEVE-VHL Trial: A Real-world Longitudinal Study on Belzutifan's Effectiveness, Pharmacogenetics, and Pharmacoeconomics in Von Hippel-Lindau (VHL) Syndrome Using the HIF2α Inhibitor Belzutifan","BELIEVE-VHL","Inclusion Criteria:\n\n* Age ≥ 14 years.\n* Clinical or genetic confirmation of von Hippel-Lindau (VHL) syndrome.\n* Presence of measurable or progressive VHL-associated tumors, as defined by RECIST 1.1 or disease-specific imaging criteria.\n* ECOG performance status of 0-2.\n* Adequate bone marrow, hepatic, and renal function as defined by laboratory reference values.\n* Ability to swallow oral medication.\n* Provision of written informed consent prior to enrollment.\n\nExclusion Criteria:\n\n* Age \\\u003C 14 years.\n* Absence of a confirmed diagnosis of von Hippel-Lindau (VHL) syndrome.\n* Presence of an active malignancy outside the VHL tumor spectrum within the past 3 years, except for adequately treated basal or squamous cell carcinoma of the skin, cervical carcinoma in situ, or other malignancies considered cured for \\>2 years.\n* Known hypersensitivity or allergic reaction to belzutifan or any excipient in the formulation.\n* History of severe or uncontrolled cardiovascular disease, including but not limited to unstable angina, myocardial infarction within the past 6 months, congestive heart failure requiring treatment, or uncontrolled hypertension.\n* Active infectious diseases, including HIV, hepatitis B, or hepatitis C.\n* Immunosuppressed status, whether due to underlying disease or ongoing therapy.\n* History of significant bleeding disorders, including bleeding diathesis, thrombocytopenia, or coagulopathy.\n* Radiotherapy administered within 4 weeks prior to study enrollment.\n* Major surgical procedure, including for VHL-related tumors, within 4 weeks prior to study enrollment, or immediate need for surgical intervention for tumor management.\n* Malabsorption secondary to prior gastrointestinal surgery or active gastrointestinal disease.\n* Current use of concomitant medications known to interact with belzutifan and significantly alter its bioavailability.\n* Anticipated low adherence to or planned interruption of belzutifan therapy.","14 Years",{"count":294,"type":20},100,[23],"The BELIEVE-VHL Trial is a prospective real-life study designed to evaluate the therapeutic effects, benefits, and adverse effects of belzutifan, as well as the timing of treatment response and disease progression in patients with von Hippel-Lindau (VHL) syndrome.",[298,60,299,300,221,301,26,302],"Von Hippel Lindau","Von Hippel Lindau-Deficient Clear Cell Renal Cell Carcinoma","Hemangioblastoma (HB) of the Central Nervous System (CNS)","Retinal Angiomatous Proliferation","Endolymphatic Sac Tumor",[304,305,306,307,308],"Belzutifan","von Hippel-Lindau","Renal Cell Clear Carcinoma","Hemangioblastoma of Central Nervous System","Pharmacogenetics","2025-09-09",{"date":311,"type":39},"2025-09-11",{"date":313,"type":39},"2024-01-01",{"date":315,"type":20},"2030-01-01",{"name":317,"class":69},"José Claudio Casali da Rocha",{"id":319,"slug":320,"hasResults":11,"nctId":321,"briefTitle":322,"officialTitle":322,"acronym":4,"eligibilityCriteria":323,"healthyVolunteers":174,"sex":16,"minAge":54,"maxAge":4,"enrollmentInfo":324,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":326,"conditions":327,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":344,"lastUpdatePostDateStruct":345,"startDateStruct":347,"completionDateStruct":349,"leadSponsor":351,"locationsCount":353},"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":325,"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.",[328,329,330,331,332,333,334,249,248,335,336,131,132,337,109,338,339,340,113,127,128,28,341,342,343,147],"Neuroendocrine Neoplasm","Neuroendocrine Neoplasm of Gastrointestinal Tract","Neuroendocrine Neoplasm of Lung","Thymic Neuroendocrine Neoplasm","Neuroendocrine Tumor of Pancreas","Gastrointestinal Stromal Tumors","Medullary Thyroid Cancer","Primary Hyperparathyroidism","Pituitary Tumor","Multiple Endocrine Neoplasia Type 4","Carney Stratakis Dyad","Carney Triad","Cowden Syndrome","Familial Isolated Pituitary Adenoma","X-Linked Acrogigantism","Neurofibromatosis 1","2024-07-22",{"date":346,"type":39},"2024-07-26",{"date":348,"type":39},"2022-08-03",{"date":350,"type":20},"2037-03-01",{"name":352,"class":69},"Universidad Nacional Autonoma de Mexico",3,{"id":355,"slug":356,"hasResults":11,"nctId":357,"briefTitle":358,"officialTitle":358,"acronym":359,"eligibilityCriteria":360,"healthyVolunteers":174,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":361,"targetDuration":363,"studyType":57,"phases":4,"briefSummary":364,"conditions":365,"keywords":369,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":374,"lastUpdatePostDateStruct":375,"startDateStruct":377,"completionDateStruct":379,"leadSponsor":381,"locationsCount":70},"100343310","myvhl-patient-natural-history-study-100343310","NCT03749980","MyVHL: Patient Natural History Study","MyVHL","Inclusion Criteria:\n\n* All patients with von Hippel-Lindau Disease (VHL)\n\nExclusion Criteria:\n\n\\-",{"count":362,"type":20},10000,"1 Year","MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other factors impact the disease and quality of life. These insights help you better understand the condition and help researchers know where to focus their efforts.\n\nDue to its rarity, there is less understanding of VHL and the factors that may have an impact. The data individuals provide in MyVHL helps researchers identify and uncover factors that may increase risk, inhibit or slow tumor growth, or lead to an effective cure.",[28,366,367,368],"Hereditary Leiomyomatosis and Renal Cell Cancer","Birt-Hogg-Dube Syndrome","SDHB Gene Mutation",[370,371,372,373,359],"VHL","BHD","HLRCC","SDHB","2024-04-25",{"date":376,"type":39},"2024-04-26",{"date":378,"type":39},"2012-01",{"date":380,"type":20},"2028-12",{"name":382,"class":69},"Joshua Mann, MPH",{"id":384,"slug":385,"hasResults":11,"nctId":386,"briefTitle":387,"officialTitle":387,"acronym":388,"eligibilityCriteria":389,"healthyVolunteers":11,"sex":16,"minAge":54,"maxAge":4,"enrollmentInfo":390,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":392,"conditions":393,"keywords":394,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":398,"lastUpdatePostDateStruct":399,"startDateStruct":401,"completionDateStruct":403,"leadSponsor":405,"locationsCount":70},"100531044","mechanisms-of-somatic-mutation-and-tumor-initiation-in-pre-malignant-kidney-tubule-cells-100531044","NCT06194669","Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells","SoMuKT","Inclusion Criteria:\n\n* Genetic diagnosis of VHL-disease; age (data need to be collected from a population distributed between 25 and 65 years); gender (males and females should be equally represented);\n\nExclusion Criteria:\n\n* patients with bilateral nephrectomy, in dialysis or kidney transplant; use of nephrotoxic drugs",{"count":391,"type":20},50,"The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates observed in these patients and in individuals not affected by the disease. The main questions the study aims to answer are:\n\n* Do kidney cells from VHL patients mutate more than cells from control individuals during adult life?\n* What mechanisms favor somatic mutation occurrence in the genome of normal kidney tubule cells?\n\nParticipants will donate one blood sample and multiple urine samples. Urines will be used for kidney cell isolation, followed by cell culturing and genetic analyses. Urine samples will be collected once a year for 3-5 years. Sample collection will occur during the yearly screening program that each patient undergoes at the hospital. In case patients undergo surgical treatment of kidney tumors, samples discarded from surgery (tumor and normal kidney adjacent to tumor) will be collected and subjected to genetic analyses.\n\nResearchers will compare the number and types of mutations found in tumors and normal kidney cells from VHL-disease patients with those found in normal kidney cells from control individuals, to see if somatic mutation rates are increased in VHL-disease patients during aging.",[84,28],[395,396,397],"Somatic mutations","Whole genome sequencing","Normal kidney","2024-01-08",{"date":400,"type":39},"2024-01-10",{"date":402,"type":39},"2023-06-30",{"date":404,"type":20},"2027-12-31",{"name":406,"class":69},"IRCCS San Raffaele",{"id":408,"slug":409,"hasResults":11,"nctId":410,"briefTitle":411,"officialTitle":412,"acronym":413,"eligibilityCriteria":414,"healthyVolunteers":11,"sex":16,"minAge":54,"maxAge":4,"enrollmentInfo":415,"targetDuration":4,"studyType":21,"phases":417,"briefSummary":418,"conditions":419,"keywords":421,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":426,"lastUpdatePostDateStruct":427,"startDateStruct":429,"completionDateStruct":431,"leadSponsor":433,"locationsCount":70},"100471833","propranolol-and-von-hippel-lindau-disease-100471833","NCT05424016","Propranolol and Von Hippel-Lindau Disease","Efficacy of Propranolol for the Treatment of Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: a Randomized Controlled Clinical Trial","PRO-HEB","Inclusion Criteria:\n\n* Age ≥ 18\n* VHL patient with one or more hemangioblastomas of the central nervous system, none of which require urgent surgery (within 3 months)\n* Patient with written consent to participate in the study\n* Enrolled in a social security plan or beneficiary\n\nExclusion Criteria:\n\n* Contraindication to the use of propranolol:\n* chronic obstructive pulmonary disease and asthma,\n* uncontrolled heart failure,\n* 2nd and 3rd degree atrioventricular blocks,\n* bradycardia (\\\u003C50 beats\u002Fminute after 3 minutes of rest),\n* Raynaud's phenomenon and peripheral arterial disorders,\n* arterial hypotension,\n* hypersensitivity to propranolol\n* cardiogenic shock,\n* Prinzmetal's angina,\n* sinus disease (including sino-auricular block)\n* untreated pheochromocytoma,\n* history of anaphylactic reaction,\n* in the context of primary and secondary prevention of digestive bleeding in cirrhotics: advanced liver failure with hyperbilirubinemia, massive ascites, hepatic encephalopathy\n* predisposition to hypoglycemia (as after fasting or in case of abnormal response to hypoglycemia)\n* metabolic acidosis\n* Contraindication to MRI:\n* claustrophobia,\n* presence of a pace maker and other stimulators\u002Fimplants\n* ocular metallic foreign bodies,\n* heart valves or ferromagnetic metal vascular clips\n* Patients already on Propranolol or other beta blockers\n* Patients under guardianship or conservatorship\n* Pregnant or breastfeeding women - Woman with a medium-term pregnancy project",{"count":416,"type":20},85,[178],"Propranolol (beta-blocker), is successfully used for the treatment of infantile hemangiomas, the most common vascular tumor of newborns. The mechanism is related to its anti-angiogenetic and pro-apoptotic effects. Recently, in vitro studies demonstrated that propranolol decreased the expression of target genes of the HIF (hypoxia-inducible factor, of which the VHL gene is the main regulator) pathway in hemangioblastoma cells and affected their viability. The efficacy of propranolol (stabilization of all HB and decrease in serum VEGF levels) was demonstrated in a phase III study, but only in retinal BHs . The only study that evaluated the effect of propranolol on CNS HB was retrospective and involved a limited number of patients. Nevertheless, it showed a decrease in the growth rate of HBs. The investigator therefore propose to carry out a randomized controlled trial to study the effect of propranolol on the growth of CNS HB in patients with VHL disease (von Hippel-Lindau).\n\nThe hypothesis of the present work is the following: the use of propranolol in VHL patients with CNS HB allows to decrease and\u002For slow down the tumor growth.",[420,28],"Hemangioblastoma of CNS",[422,423,424,425],"hemangioblastomas","Propranolol","Von Hippel-Lindau,","MRI","2023-12-12",{"date":428,"type":39},"2023-12-13",{"date":430,"type":39},"2023-01-16",{"date":432,"type":20},"2026-11-01",{"name":434,"class":69},"Assistance Publique - Hôpitaux de Paris",{"id":436,"slug":437,"hasResults":11,"nctId":438,"briefTitle":439,"officialTitle":440,"acronym":4,"eligibilityCriteria":441,"healthyVolunteers":11,"sex":16,"minAge":442,"maxAge":4,"enrollmentInfo":443,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":444,"conditions":445,"keywords":446,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":451,"lastUpdatePostDateStruct":452,"startDateStruct":454,"completionDateStruct":456,"leadSponsor":458,"locationsCount":70},"100241348","screening-for-endolymphatic-sac-tumours-elsts-in-von-hippel-lindau-vhl-patients-100241348","NCT02420067","Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients","An International Collaborative Study: Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients","Inclusion Criteria:\n\n* A diagnosis of vHL (either a carrier of a VHL mutation or vHL diagnosed by clinical criteria, i.e. at least two vHL-related manifestations diagnosed or one vHL-related manifestation diagnosed AND a first-degree relative with vHL)\n* At least one audiological examination (including an audiogramme) and one MRI examination of the brain also visualizing the inner ear within 12 months of each other\n\nExclusion Criteria:\n\n* Children under the age of 15 years","15 Years",{"count":240,"type":20},"The purpose of the study is to investigate how best to screen for Endolymphatic sac tumors (ELSTs) in von Hippel-Lindau (vHL) patients in order to diagnose the ELSTs while they are still small so that hearing loss can be prevented.\n\nUp to 16% of vHL patients are known to develop endolymphatic sac tumors in the inner ear that can cause permanent hearing loss. However, the ELSTs are often not found before hearing loss has already occurred. The challenge for doctors is to diagnose the ELSTs at early stages before they cause often irreversible deafness. In order to find ELSTs before they cause hearing loss, it is important to screen for the tumors prophylactically, that is screen all vHL patients regardless of whether or not they have symptoms.\n\nWho can join? Persons diagnosed with vHL who are at least 15 years old. The investigators include patients WITH OR WITHOUT a diagnosed ELST.\n\nWhat does it involve? You need to have a hearing test and an MRI of the brain, where the inner ear can be seen, most vHL patients have already had this done as part of their surveillance program.\n\nParticipants will be asked to participate in follow up examinations (hearing test and\u002For MRI of the brain) after 2, 5, and 10 years.\n\nHow can I join? A doctor has to be responsible for the study in each country where vHL patients participates.\n\nAsk the doctor who manages your vHL examinations to contact us or contact us yourself and the investigators will help you find a doctor in your country who will participate in the study.",[28],[447,448,449,425,450],"von Hippel-Lindau disease","Endolymphatic sac tumors","Audiological examination","Surveillance","2017-05-06",{"date":453,"type":39},"2017-05-09",{"date":455,"type":4},"2011-02",{"date":457,"type":20},"2026-12",{"name":459,"class":69},"Marie Luise Bisgaard, MD"]