Active clinical trials for "Von Hippel-Lindau Disease"

This study will examine whether he drug ranibizumab can slow or stop the growth of angiomas (blood vessel tumors) in patients with Von Hippel-Lindau syndrome (VHL). Angiomas commonly develop in the back of the eye on the retina and the optic nerve in patients with VHL. Although these tumors are not cancerous, they may cause significant vision loss. Current treatments, including laser therapy, cryotherapy, and vitrectomy, may not be successful or possible for all patients. Ranibizumab decreases production of VEGF, a growth factor that is important for the formation of new blood vessels and that is elevated in patients with VHL. Preliminary findings from other studies suggest that ranibizumab can reduce retinal thickening caused by vessel and tumor growth and improve vision. Patients 18 years of age and older with retinal angiomas due to VHL in one or both eyes and central vision loss of 20/40 or worse may be eligible for this study. Participants undergo the following tests and procedures: Medical history, physical examination, electrocardiogram (EKG) and blood tests. Eye examination, including eye pressure measurement and dilation of the pupils to examine the retina. Fluorescein angiography to evaluate the eye's blood vessels. For this test, a yellow dye is injected into an arm vein and travels to the blood vessels in the eyes. Pictures of the retina are taken using a camera that flashes a blue light into the eye. The pictures show if any dye has leaked from the vessels into the retina, indicating possible blood vessel abnormality. Optical coherence tomography to measure retinal thickness. The eyes are examined through a machine that produces cross-sectional pictures of the retina. These measures are repeated during the study to determine changes, if any, in retinal thickening. Stereoscopic color fundus photography to examine the back of the eye. The pupils are dilated with eye drops to examine and photograph the back of the eye. Electroretinogram (ERG) to measure electrical responses generated from within the retina. For this test, the patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small silver disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops, and contact lenses are placed on the eyes. The patient looks inside an open white globe that emits a series of light flashes for about 20 minutes. The contact lenses sense small electrical signals generated by the retina when the light flashes. Ranibizumab injections to treat ocular angiomas. Ranibizumab is injected through a needle into the eye's vitreous (gel-like substance that fills the inside of the eye). Seven injections are given over a 28-week period. Before each injection, the surface of the eye is numbed with anesthetic eye drops. This is followed by injection of another anesthetic into the lower portion of the eye in the clear tissue surrounding the white of the eye. After a few minutes, the ranibizumab is injected into the vitreous. Patients receive ranibizumab injections at the first visit (during enrollment) and again at 4, 8, 12, 16, 20 and 24 weeks after the first injection. At the 28-week visit, the doctor will determine if further treatment is needed. Patients can continue to have injections every 4 weeks until 1 year of follow-up (54 weeks). At each injection visit, participants repeat most of the tests described above to evaluate the response to treatment and return a week later for another eye examination.

Background: Retinal hemangioblastoma (RH) is a tumor. It grows from the retina in the eye. It can threaten a person s vision. Trans-scleral cryotherapy is used to destroy the tumors and minimize the long-term risks of vision loss. RH is a rare condition, often occurring in people with von Hippel-Lindau disease. There are no clinical trials to study how well the treatment works. Researchers want to study the medical records of people with RH who were treated at the NIH eye clinic to learn more. Objective: To analyze clinical data collected over a 20-year span to study consecutive cases of RH managed with trans-scleral cryotherapy at the NIH. Eligibility: People who took part in NIH natural history protocols for which cryotherapy of RH was performed as a standard care measure. Design: Researchers will collect and study data from participants medical charts. Participants will not be contacted because no new data is needed. Researchers were granted a waiver of informed consent for use of these medical records. To protect patient privacy, participants will be assigned an ID number. Their data will be entered into a spreadsheet in a coded fashion. The key to this code will be kept in a secure file. No patient identifying information will be used in the analysis or the publication....

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: - 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.

The purpose of this study is to determine if contrast-enhanced ultrasound can detect abnormal features of kidney lesions in patients with Von-Hippel Lindau with the same accuracy as conventional ultrasound and contrast-enhanced magnetic resonance imaging (MRI)

RATIONALE: The identification of gene mutations in individuals who have or are at risk for von Hippel-Lindau syndrome may allow doctors to better determine the genetic processes involved in the development of cancer. PURPOSE: This genetic study is finding gene mutations in participants with von Hippel-Lindau syndrome or who are at risk for developing von Hippel-Lindau syndrome.

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. To learn more about this disease, its genetic cause and how best to treat it, this study will 1) identify patients with VHL who have pancreatic lesions; 2) examine the characteristics of the lesions and how fast they grow; 3) study how well imaging tests can reveal lesion characteristics that will help in diagnosis; and 4) perform genetic studies using blood and, when possible, tissue samples. Patients 12 years of age and older with VHL involving the pancreas may be eligible for this study. Participants will undergo some or all of the following tests and procedures: Interviews with a cancer doctor, cancer nurses, and a surgeon (if surgery is recommended). Computed tomography (CT) scan of the abdomen, chest, or pelvis. This test uses x-rays to produce images of body tissues and organs in small sections. Magnetic resonance imaging (MRI) of the abdomen. This test uses radio waves and a strong magnetic field to produce images of body tissues and organs. Ultrasound of the abdomen. This test uses sound waves to create images body tissues and organs. Blood tests for routine laboratory chemistries, for tests specific to the pancreas, and for genetic studies 24-hour urine studies After the tests are completed, the doctor will discuss the results with the patient. Patients with a pancreatic tumor that requires surgery will be offered the option of an operation to remove as much tumor as possible. Patients with lesions that are not appropriate for surgery will be asked to return to National Institutes of Health (NIH) for scans and x-rays every year to monitor growth of the lesions. If surgery should become advisable in the future, the option will be discussed at that time. Patients with pancreatic cysts will be asked to return to NIH every 2 years for scans and x-rays to monitor their condition.

The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control study to be conducted by the National Cancer Institute. The study subjects are 603 individuals who were determined to belong to families with VHL disease confirmed through screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13 - 17 will be included. All subjects will give informed consent prior to participation; for minor subjects, assent will be obtained from the minor and consent from the parent/guardian. This protocol provides the potential to benefit people with VHL disease (although not necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary) forms of the tumors which occur in VHL disease. The risks and discomfort associated with this study are minor. The present protocol is a new epidemiologic component to VHL research at NIH which will relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical activity), occupational exposures, reproductive and hormonal factors, demographic factors, medication use, diet, and putative susceptibility genes. Information will be collected by telephone interview and a written, self-administered diet questionnaire. A cheek cell sample will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to document events reported by the subject at interview. Primary comparisons will be between VHL patients with a particular manifestation and VHL patients who are free of that condition. Additional comparisons may be made with unaffected family members who lack a mutation in the VHL gene, as appropriate.

The von Hippel Lindau (VHL) gene has recently been identified as the genetic defect resulting in a syndrome of multiple neoplasias. Patients with VHL disease develop retinal angiomata, renal cysts and/or carcinomas, CNS hemangioblastomas as well as pancreatic cysts and pheochromocytomas. Investigators have shown the gene to be a tumor suppressor type proto-oncogene located at chromosomal locus 3p26. The gene includes three exons whose gene product targets a cellular transcription factor Elongin SIII. Binding of the VHL proteins to two subunits of this elongation factor inhibits transcription and may play a crucial role in the clinical development of the von Hippel Lindau phenotype.

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.