Clinical trials: VHL Syndrome
Deafness, Kidney Diseases
Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors
The von Hippel Lindau (VHL) gene has recently been identified as the genetic defect resulting in a syndrome of multiple neoplasias.
- Conditions
- Deafness, Kidney Diseases, Kidney Neoplasms, Neoplasms
- Trial name
- NCT00001668
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Neoplastic Syndromes, Hereditary, Urologic Neoplasms
Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and…
- Trial name
- NCT00001814
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Von Hippel-Lindau Disease
Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients
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…
- Trial name
- NCT02420067
- Where
- Denmark
- Volunteers
- 380 people
- Sponsor
- Marie Luise Bisgaard, MD
Von Hippel Lindau, Von Hippel Lindau Disease
Real-World Effectiveness and Pharmacogenetics of Belzutifan in VHL Syndrome: The BELIEVE-VHL Trial
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…
- Conditions
- Von Hippel Lindau, Von Hippel Lindau Disease, Von Hippel Lindau-Deficient Clear Cell Renal Cell Carcinoma, Hemangioblastoma (HB) of the Central Nervous System (CNS)
- Trial name
- BELIEVE-VHL (NCT07167329)
- Testing
- Belzutifan
- Where
- Brazil
- Volunteers
- 100 people
- Sponsor
- José Claudio Casali da Rocha
Neuroendocrine Tumors, Von Hippel-Lindau Syndrome
Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors
Background: Neuroendocrine tumors (NETs) are rare but have been more common over the past decade. The only treatment for NETs is surgery, but most are found when they are too advanced for surgery.
- Conditions
- Neuroendocrine Tumors, Von Hippel-Lindau Syndrome, Hippel-Lindau Disease
- Trial name
- NCT01967537
- Testing
- 68Gallium DOTATATE, Radio-guided surgery
- Where
- United States
- Volunteers
- 341 people
- Sponsor
- National Cancer Institute (NCI)
Renal Tumor Histology, Kidney Cancer
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled.
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer
- Trial name
- NCT05534854
- Testing
- Gene test
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- RenJi Hospital
Rare Diseases, Amyloidosis
Institutional Registry of Rare Diseases
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).
- Conditions
- Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis
- Trial name
- NCT06573723
- Where
- Argentina
- Volunteers
- 380 people
- Sponsor
- Hospital Italiano de Buenos Aires
Von Hippel-Lindau Disease
Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease
Von Hippel-Lindau disease (VHL) is an inherited cancer syndrome. Patients are at risk for developing pancreatic cysts and tumors. These tumors are more aggressive in some people than in others.
- Trial name
- NCT00062166
- Where
- United States
- Volunteers
- 340 people
- Sponsor
- National Cancer Institute (NCI)
VHL Pancreatic Neuroendocrine Tumors, Von Hippel-Lindau Disease
Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors
Background: People 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.
- Conditions
- VHL Pancreatic Neuroendocrine Tumors, Von Hippel-Lindau Disease, Neuroendocrine Tumors
- Trial name
- NCT04074135
- Testing
- 68-Gallium DOTATATE
- Where
- United States
- Volunteers
- 740 people
- Sponsor
- National Cancer Institute (NCI)
Hippel-Lindau Disease
EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome
This study will test the ability of the experimental drug EYE001 to reduce retinal thickening and improve vision in patients with Von Hippel-Lindau syndrome (VHL).
- Trial name
- NCT00056199
- Testing
- EYE001
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
Von Hippel Lindau Disease, Kidney Neoplasms
Von Hippel-Lindau Disease Genetic Epidemiology Study
The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control study to be conducted by the National Cancer Institute.
- Trial name
- NCT00001803
- Where
- United States
- Volunteers
- 546 people
- Sponsor
- National Cancer Institute (NCI)
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer
MyVHL: Patient Natural History Study
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…
- Conditions
- Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
- Trial name
- MyVHL (NCT03749980)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Joshua Mann, MPH
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
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.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Age-Related Macular Degeneration, Diabetic Retinopathy
National Eye Institute Biorepository for Retinal Diseases
Background: To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time.
- Conditions
- Age-Related Macular Degeneration, Diabetic Retinopathy, Von Hippel-Lindau Syndrome, Retinal Disease
- Trial name
- NCT01496625
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Von Hippel-Lindau Disease, Central Nervous System Hemangioblastoma
Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas
Von Hippel-Lindau (VHL) disease is a rare hereditary cancer predisposition syndrome associated with the development of central nervous system hemangioblastomas from childhood.
- Trial name
- VHL-PED-CHB (NCT07705529)
- Where
- 3 sites in France
- Volunteers
- 25 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Von Hippel-Lindau Syndrome
Pazopanib Hydrochloride in Treating Patients With Von Hippel-Lindau Syndrome
This phase II trial studies the side effects and how well pazopanib hydrochloride works in treating patients with von Hippel-Lindau syndrome.
- Trial name
- NCT01436227
- Testing
- Laboratory Biomarker Analysis, Pazopanib Hydrochloride
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- M.D. Anderson Cancer Center
Hemangioblastoma, Hippel Lindau Disease
Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease
The purpose of this study is to learn more about the growth of brain and spinal cord tumors and cysts that develop in association with them in patients with von Hippel-Lindau disease.
- Trial name
- NCT00005902
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Pheochromocytoma/Paraganglioma, Pancreatic Neuroendocrine Tumor
Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (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)
This is a study to evaluate the efficacy and safety of belzutifan monotherapy in participants with advanced pheochromocytoma/paraganglioma (PPGL), pancreatic neuroendocrine tumor (pNET), von Hippel-Lindau (VHL) disease-associated…
- Conditions
- Pheochromocytoma/Paraganglioma, Pancreatic Neuroendocrine Tumor, Von Hippel-Lindau Disease, Advanced Gastrointestinal Stromal Tumor
- Trial name
- NCT04924075
- Testing
- Belzutifan
- Where
- 84 sites in United States, Australia and 20 more
- Volunteers
- 355 people
- Sponsor
- Merck Sharp & Dohme LLC
Meningioma, Metastatic Well Differentiated Neuroendocrine Neoplasm
68Ga-DOTA-TOC PET/CT in Imaging Participants With Neuroendocrine Tumors
This trial studies how well gallium Ga 68-edotreotide (68Ga-DOTA-TOC) positron emission tomography (PET)/computer tomography (CT) works in imaging participants with neuroendocrine tumors.
- Conditions
- Meningioma, Metastatic Well Differentiated Neuroendocrine Neoplasm, Multiple Endocrine Neoplasia Type 1, Neuroendocrine Neoplasm
- Trial name
- NCT03001349
- Testing
- Computed Tomography, Gallium Ga 68-Edotreotide, Positron Emission Tomography
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- M.D. Anderson Cancer Center
Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1)
Precision Medicine for Neurocutaneous Syndromes in Western China
The goal of this observational study (retrospective multicenter cohort study) is to learn if precision medicine approaches-including genetic testing, targeted drugs, and coordinated care from multiple specialists-can improve…
- Conditions
- Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC), Sturge-Weber Syndrome (SWS)
- Trial name
- NCT07327164
- Where
- China
- Volunteers
- 1,200 people
- Sponsor
- West China Hospital