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

NCT00005902 | Active Not Recruiting

• 2 other identifiers: 00014000-N-0140
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

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. ...

Conditions

Hemangioblastoma; Hippel Lindau Disease

Keywords

Brain; Brainstem; Cysts; Spinal Cord; MRI (Magnetic Resonance Imaging); Natural History

Outcome Measures

Primary Outcomes (1)

• Determine the course of clinical and radiographic progression of VHL

  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

  Baseline, 12-24 month intervals

Secondary Outcomes (1)

• Determine the course of tumor and cyst growth after surgical and/or radiation intervention.

  12 24 months after surgery until withdrawal or death

Study Arms (1)

1

250 subjects with von Hippel-Lindau (VHL) disease.

Eligibility Criteria

• Age: 8 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• Clinically unstable condition.
• 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.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• Lonser RR, Butman JA, Huntoon K, Asthagiri AR, Wu T, Bakhtian KD, Chew EY, Zhuang Z, Linehan WM, Oldfield EH. Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease. J Neurosurg. 2014 May;120(5):1055-62. doi: 10.3171/2014.1.JNS131431. Epub 2014 Feb 28.

  PMID: 24579662 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Hemangioblastoma; von Hippel-Lindau Disease; Cysts

Condition Hierarchy (Ancestors)

Hemangioma, Capillary; Hemangioma; Neoplasms, Vascular Tissue; Neoplasms by Histologic Type; Neoplasms; Neurocutaneous Syndromes; Nervous System Diseases; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Prashant Chittiboina, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 6, 2000
• First Posted: June 7, 2000
• Study Start: February 15, 2001
• Last Updated: May 7, 2026

Record last verified: 2026-02-27

Locations

US (1)