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Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00005902
Recruitment Status : Active, not recruiting
First Posted : June 7, 2000
Last Update Posted : September 8, 2022
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )

Brief Summary:

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

Detailed Description:

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.

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Study Type : Observational
Actual Enrollment : 250 participants
Observational Model: Cohort
Time Perspective: Prospective
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.

Primary Outcome Measures :
  1. 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 Progression 2. Radiographic Progression 3. Post-treatment outcome (surgery and radiation) 4. Contributing factors 5. Genetic variability and effects on disease progression

Secondary Outcome Measures :
  1. Determine the course of tumor and cyst growth after surgical and/or radiation intervention. [ Time Frame: 12 24 months after surgery until withdrawal or death ]

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years to 75 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
This study will enroll 250 subjects with von Hippel-Lindau (VHL) disease. Withdrawal/dropouts will not be replaced.

    1. Ages 8-75.
    2. Confirmed diagnosis of von Hippel-Lindau disease.
    3. Presence of one or more cerebral, cerebellar or spinal cord hemangioblastomas on screening MRI.
    4. Able to give informed consent (or assent), or have a parent able to provide informed consent if a child.
    5. Karnofsky Performance Scale Score greater than or equal to 60.
    6. Have the capacity to undergo serial MRI scanning of the CNS without IV sedation.


  1. Clinically unstable condition.
  2. Being treated by any chemotherapy, immunotherapy, or steroids.
  3. Allergy to CT or MRI contrast agents.
  4. Contraindication to MRI scanning such as surgery that involves metal clips or wires which might be expected to cause tissue damage or produce image artifacts.

Information from the National Library of Medicine

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

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United States, Maryland
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
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Principal Investigator: Prashant Chittiboina, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Institute of Neurological Disorders and Stroke (NINDS)
ClinicalTrials.gov Identifier: NCT00005902    
Other Study ID Numbers: 000140
First Posted: June 7, 2000    Key Record Dates
Last Update Posted: September 8, 2022
Last Verified: May 18, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: .We do plan to share IPD. we will share all IPD that results in a publication on a public repository, as required by most journals. the data will be de-identified and anonymized.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ):
Spinal Cord
MRI (Magnetic Resonance Imaging)
Natural History
Additional relevant MeSH terms:
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Von Hippel-Lindau Disease
Neurocutaneous Syndromes
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Hemangioma, Capillary
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type