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

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ) Identifier:
First received: June 6, 2000
Last updated: April 20, 2017
Last verified: October 5, 2016

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.

Hippel Lindau Disease

Study Type: Observational
Official Title: A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 250
Study Start Date: June 4, 2000
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 VEGF levels, hemoglobin/hematocrit levels, and erythropoietin.

Ages Eligible for Study:   8 Years to 75 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

    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. Provide written informed consent (or assent).
    5. Karnofsky Performance Scale Score greater than or equal to 60.


  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.
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Please refer to this study by its identifier: NCT00005902

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: John D Heiss, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: National Institute of Neurological Disorders and Stroke (NINDS) Identifier: NCT00005902     History of Changes
Other Study ID Numbers: 000140
Study First Received: June 6, 2000
Last Updated: April 20, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Magnetic Resonance Imaging
Spinal Cord
von Hippel-Lindau

Additional relevant MeSH terms:
Von Hippel-Lindau Disease
Hemangioma, Capillary
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Neurocutaneous Syndromes
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases processed this record on May 24, 2017