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

A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas

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.

Study Overview

Status

Active, not recruiting

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.

Study Type

Observational

Enrollment (Actual)

250

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

8 years to 75 years (Child, Adult, Older Adult)

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.

Description

  • INCLUSION CRITERIA:

    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.

EXCLUSION CRITERIA:

  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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
1
250 subjects with von Hippel-Lindau (VHL) disease.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Baseline, 12-24 month intervals

Secondary Outcome Measures

Outcome Measure
Time Frame
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
12 24 months after surgery until withdrawal or death

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Prashant Chittiboina, M.D., National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 15, 2001

Study Registration Dates

First Submitted

June 6, 2000

First Submitted That Met QC Criteria

June 6, 2000

First Posted (Estimated)

June 7, 2000

Study Record Updates

Last Update Posted (Actual)

March 27, 2024

Last Update Submitted That Met QC Criteria

March 26, 2024

Last Verified

September 12, 2023

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD 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.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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