View clinical trials related to Von Hippel-Lindau Disease.
Filter by: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. Up 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. Who can join? Persons diagnosed with vHL who are at least 15 years old. The investigators include patients WITH OR WITHOUT a diagnosed ELST. What 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. Participants will be asked to participate in follow up examinations (hearing test and/or MRI of the brain) after 2, 5, and 10 years. How can I join? A doctor has to be responsible for the study in each country where vHL patients participates. Ask 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.
The investigators aim to analyze tumors from vHL patients who have different courses of disease and different types of VHL gene alterations to characterize which types of genetic alterations the tumors contain and how these alterations affect the tumor cells' behavior on a molecular level. The investigators will then compare these observations to vHL disease outcome in patients and families. It is already known that most vHL tumors develop when both copies of the VHL gene in a cell are inactivated. The first copy is inactivated in all the person's cells from birth ("first hit"), leaving just one functional copy. A tumor can develop from cells where the second copy is also inactivated ("second hit"). So far, only the molecular consequences of the first hit have been investigated. It is our hypothesis that both the first and second hits in combination have consequences for tumor development and clinical outcome. The investigators will include tumors from patients with different disease courses and different types of "first hits" and analyse the tumors' DNA in order to find correlations between the first and second hits and patients' and families' medical histories. The investigators hereby hope to give new insights into how vHL tumors grow and which genetic factors influence tumor development. These results will contribute to the current knowledge of vHL and help us get one step closer to be able to predict an individual's tumor risks and need for surveillance.
Background: - Von Hippel-Lindau (VHL) disease is a rare gene disease. People with VHL often have a brain tumor called hemangioblastoma. Standard treatment for these tumors is risky surgery. Researchers want to find new ways to treat people who have the tumors. They want to see if a drug that fights other cancers might slow the growth of hemangioblastomas in some people with VHL. Some people with VHL have mutations that make abnormal proteins. Tumors form in such people because the abnormal protein is broken down quickly. The cancer drug may work in these tumors by preventing breakdown of protein. Objective: - To study how the drug vorinostat affects hemangioblastomas in people with VHL. Eligibility: - Adults at least 18 old with hemangioblastomas from VHL. Design: - Participants must already be in study 03-N-0164. They must have tumor surgery scheduled. - Participants must stop taking most medications 14 days before surgery. - One week before surgery, participants will enter the hospital. They will be screened with medical history and physical and neurological exams. They will give blood and urine samples. Participants will have an electrocardiogram. For this test, small sticky patches are put on the arms, legs, and chest. Participants will lie still for a few minutes while a machine records heart rate and rhythm. - Participants will take one vorinostat by mouth each day for 7 days. - Participants will have blood drawn during the week to check for any side effects. - Participants will have their tumor removed in surgery. Researchers will study the tumor tissue for the effects of the study drug. - A nurse will call participants 1 month after surgery to check for side effects.
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. Researchers are looking for the best way to find NETs earlier, so that surgery can be successful. They want to test if the study drug can be used along with imaging devices to detect NETs. Objectives: - To see how well a new experimental imaging agent, 68Gallium-DOTATATE, detects unknown primary and metastatic NETs in the gastrointestinal system and pancreas. Eligibility: - Adults over 10 years old with a suspected NET or family history of NET. Design: - Participants will be screened with a medical history and physical exam, and have a blood test. - Participants will undergo three scans. For all of these, a substance is injected into their body, they lie on a table, and a machine takes images. - A standard computed tomography (CT) scan of the chest, abdomen, and pelvis. - An octreotide scintigraphy Single photon emission computed tomography (SPECT)/CT. - A 68Gallium-DOTATATE positron emission tomography (PET)/CT. The study drug is injected into a vein, usually in the arm. Low-dose X-rays go through the body. For about 40 minutes a large, donut-shaped device takes images of the body. The entire session takes 90 to 120 minutes. - Researchers will compare images from the three scans. - Participants will have 1 follow-up visit each year for 5 years. At this visit, they will have a medical exam, blood taken, and a CT scan.
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. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some people respond to treatment while others do not. Researchers want to collect physical samples and personal data to develop a National Eye Institute database. Objectives: - To collect health information and blood and tissue samples from people with and without eye diseases, to be used in research studies. Eligibility: - Individuals of any age with different types of eye disease. - Healthy volunteers with no history of eye disease. Design: - Participants may be recruited from National Eye Institute studies or may be referred from other sources. - Participants will be screened with a physical exam and medical history. They will also have a full eye exam. Questions will be asked about family medical history, especially about eye disease. - Blood samples will be collected. Other samples, such as saliva, tears, hair, stool, and urine, may be collected as needed. Adult participants may also provide a skin sample. - Tissue or fluid from eye collected as part of eye care or treatment may also be added to the database. - No treatment will be provided as part of this study.
This phase II trial studies the side effects and how well pazopanib hydrochloride works in treating patients with von Hippel-Lindau syndrome. Pazopanib hydrochloride may stop the growth of cancer cells by blocking some of the enzymes needed for cell growth.
The goal of this clinical research study is to learn if dovitinib can safely be given to patients who have VHL with a measurable hemangioblastoma (tumor of the central nervous system). The effects of this drug on the disease will also be studied.
VHL patients may benefit from sunitinib. This study will investigate the following objectives : PRIMARY OBJECTIVE - To determine the objective response rate according to RECIST criteria, in VHL patients with advanced tumors or tumors untreatable by other means, and treated with sunitinib. SECONDARY OBJECTIVES - To evaluate the safety and tolerability of sunitinib in VHL patients according to the NCI-CTC criteria Version 3.0. - To determine the following time-to-event endpoints: overall survival, time to disease progression, progression free survival, time to response and duration of response. - To evaluate quality of life in VHL patients receiving sunitinib.
Von Hippel-Lindau (VHL) disease is an inherited syndrome manifested by a variety of benign and malignant tumors. Hemangioblastomas are the most common lesion associated with VHL disease affecting 60-84% of patients with a mean age at diagnosis of 29 years. Standard treatment for this disease is by surgery or radiotherapy. No approved systemic therapy yet exists. Patients with VHL have an increased growth factor production, specifically vascular endothelial growth factor (VEGF), resulting in angiogenesis (growth of blood vessels). Studies show that Bevacizumab inhibits the growth of VEGF protein and will block the VEGF-driven angiogenesis and result in stabilization and regression of hemangioblastomas in VHL disease patients. The dose of bevacizumab will be 10 mg/kg every two weeks for up to 6 months.
Von Hippel Lindau disease (VHLD) is an inherited syndrome characterized by vascular malformations, kidney cancer, adrenal gland and pancreas tumors. The VHL protein is not functional in the different disease associated lesions which results in production of high amounts of vascular endothelial growth factor (VEGF). Currently there are no clinical, radiographic or molecular markers that can predict the natural history of a given lesion. With 89Zr-bevacizumab positron emission tomography (PET) scanning, VEGF can be visualized and quantified. The investigators hypothesize that 89Zr-bevacizumab PET imaging is a useful tool to predict the behaviour of disease associated lesions in patients with VHLD. Adult patients with VHLD who have had routine magnetic resonance imaging (MRI) scans of central nervous system (CNS) and abdomen will undergo a 89Zr-bevacizumab PET scan. MRI will be repeated within 12 months.