Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease
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|ClinicalTrials.gov Identifier: NCT00005902|
Recruitment Status : Active, not recruiting
First Posted : June 7, 2000
Last Update Posted : October 5, 2021
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. It will examine how fast the tumors grow and try to determine what factors (for example, puberty , pregnancy, menopause, blood proteins, etc.) affect their growth.
Patients between the ages of 8 and 75 years who are enrolled in NIH s study of von Hippel-Lindau disease may be eligible for this 5-year study. Participants will have magnetic resonance imaging (MRI) of the brain and spinal cord and a thorough neurological history and examination at the start of the study. A blood sample will be taken for analysis of factors (hormones or other proteins) that may predict tumor growth. Follow-up clinic visits every 6 months will include a physical and neurological examination, blood tests, and MRI scans of the brain and spine. If symptoms or tumor growth requires more frequent follow-up, scans will be done at 3-month intervals.
Surgical removal of brain and spinal cord tumors is currently the treatment of choice when these lesions cause neurological problems. A better understanding of which tumors are likely to grow and which will remain stable may help guide physicians in treatment decisions and avoid unnecessary procedures.
|Condition or disease|
|Hemangioblastoma Hippel Lindau Disease|
Hemangioblastomas of the cerebellum, brainstem and spinal cord are frequent tumors in patients with von Hippel-Lindau (VHL) disease. Rarely, these lesions also affect the cerebrum. Patients often have multiple lesions, many of which are associated with cysts or syrinx. The current treatment for symptomatic lesions is surgical resection. Focused radiation is also being used in selected cases in an attempt to provide tumor control. The natural history of central nervous system (CNS) lesions in patients with VHL has not been addressed in a prospective study. It is not clear at which point these lesions will begin to grow, or develop cysts in the cerebellum or syrinx in the spinal cord, and systemic factors that influence tumor growth have not been identified. By identifying factors that predict or influence tumor progression or cyst development, we can more accurately recommend surgical or medical intervention at appropriate times and avoid unnecessary treatment for stable lesions. This study will collect prospective radiological and clinical data on growth of the central nervous system (CNS) hemangioblastomas and associated cysts. We will also prospectively collect information on systemic processes that may influence tumor progression, such as puberty, menopause, pregnancy, effects of hormone therapy, tumor load, serum erythropoeitin level and hemoglobin/hematocrit levels.
This natural history study has resulted in significant improvement in our understanding of the pathophysiology of VHL disease. Data from this study have resulted in a better understanding of the origin and growth patterns of hemangioblastomas, and endolymphatic sac tumors in patients with VHL disease. New therapies targeting hemangioblastomas in VHL disease are being devised based on information gathered from this study. We expect this natural history disease to continue to inspire new hypothesis driven studies while improving the understanding and management of hemangioblastomas in VHL disease.
|Study Type :||Observational|
|Actual Enrollment :||250 participants|
|Official Title:||A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas|
|Actual Study Start Date :||February 15, 2001|
250 subjects with von Hippel-Lindau (VHL) disease.
- Determine the course of clinical and radiographic progression of VHL [ Time Frame: Baseline, 12-24 month intervals ]The questions to be answered fall in the following general categories:1. Course of Clinical Progression2. Radiographic Progression3. Post-treatment outcome (surgery and radiation)4. Contributing factors5. Genetic variability and effects on disease progression
- Determine the course of clinical and radiographic progression of VHL disease following surgical interventions. [ Time Frame: 12-24 months intervals after baseline evaluation. ]Patients with CNS VHL disease undergo surgery for removal of problem causing tumors and cysts. We are investigating the effect of such necessary surgeries on the clinical measures including neurological deficits, functional measures and reported pain measures. We will also evaluate whether the need for other CNS surgeries remains the same or decreases with time.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00005902
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Prashant Chittiboina, M.D.||National Institute of Neurological Disorders and Stroke (NINDS)|