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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

250 participants

Study Classification

OBSERVATIONAL

Study Start Date

2001-02-15

Brief Summary

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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.

Detailed Description

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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 natural experiment trial collected prospective radiological and clinical data on the growth of the central nervous system (CNS) hemangioblastomas and associated cysts. We prospectively collected information on systemic processes that may influence tumor progression, such as puberty, menopause, pregnancy, effects of hormone therapy, tumor load, serum erythropoietin level and hemoglobin/hematocrit levels.

This natural experiment trial has resulted in significant improvement in our understanding of the pathophysiology of VHL disease. Data from this trial 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 experiment trial to continue to inspire new hypothesis-driven studies while improving the understanding and management of hemangioblastomas in VHL disease.

Conditions

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Hemangioblastoma Hippel Lindau Disease

Keywords

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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1

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

No interventions assigned to this group

Eligibility Criteria

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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. 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.

Minimum Eligible Age

8 Years

Maximum Eligible Age

75 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Prashant Chittiboina, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Institute of Neurological Disorders and Stroke (NINDS)

Locations

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National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status

Countries

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United States

References

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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.

Reference Type DERIVED

PMID: 24579662 (View on PubMed)

Other Identifiers

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000140

Identifier Type: -

Identifier Source: org_study_id

00-N-0140