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Natural History Study of Patients With Neurofibromatosis Type 2
This study is currently recruiting participants.
Verified by National Institutes of Health Clinical Center (CC), January 2008
Sponsored by: National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00598351
  Purpose

This study will examine over the long-term the progress of patients with neurofibromatosis Type 2 (NF2), a condition associated with tumors of the nerves, brain and spinal cord. It will study patients' tumors to learn how fast they can grow and if certain factors might affect their growth. It will also examine the effects of the tumors on patients' abilities to carry out activities of daily living.

People between 8 and 75 years of age with NF2 may be eligible for this study. Participants undergo the following procedures:

Initial evaluation, including hearing, eye and balance testing, gait (walk) testing, magnetic resonance imaging (MRI) scans of the brain and spine, blood tests, and physical and neurological examinations.

MRI scans of the brain and spine every 6 months to follow the size and number of tumors.

Physical and neurological examinations and blood tests every 6 months.

Auditory tests every 12 months. These tests evaluate middle and inner ear function and the patient's ability to hear tones at different frequencies and to hear words at different volumes. The subject responds to tones and words that are delivered through earphones.

Eye examination every 1 to 2 years.

Gait testing every 12 months if a spinal cord tumor causes problems with sensation or muscle control in the arms and legs - Subjects' joints are measured while they walk across a room several times as scientific cameras record their movements.

Vestibular testing if the patient experiences changes in balance or undergoes treatment for vestibular schwannoma (a tumor that develops on the hearing and balance nerves). These tests check the function of various components of the balance system (eyes, inner ear, or leg and body sensation and muscles). They include:

  • Videoelectronystagmogram - Tracks subjects' eye movements while they follow moving red lights with their eyes.
  • Vestibular evoked myogenic potential - Assesses subjects' neck muscle movements in response to noise.
  • Posturography - Determines which parts of the balance system the subject relies on most. Subjects stand on a platform and try to maintain their balance while changes are made to the platform and the environment.
  • Rotary chair test - Subjects' eye movements are monitored as they follow red spots and strips of light with their eyes while seated in a rotary chair that turns side to side at several speeds.

Condition
Spinal Cord Disease
Intracranial Central Nervous System Disorder
Neurologic Disorders
Brain Neoplasms

Genetics Home Reference related topics: familial encephalopathy with neuroserpin inclusion bodies neurofibromatosis type 1 neurofibromatosis type 2
MedlinePlus related topics: Brain Cancer Brain Diseases Cancer Childhood Brain Tumors Neurofibromatosis Neurologic Diseases Spinal Cord Diseases
U.S. FDA Resources
Study Type: Observational
Study Design: Prospective
Official Title: A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2)

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

Estimated Enrollment: 250
Study Start Date: January 2008
Detailed Description:

Objective

The objective of this prospective natural history study on neurofibromatosis type 2 (NF2) is to gain clinical and molecular insight into the effects of this tumor suppressor syndrome on tumor development and progression and to identify factors linked to symptom evolution.

Study Population

Two hundred fifty patients, ages 8-75, with a clinical or genetic diagnosis of NF2 will participate in this study.

Design

Study participants will be evaluated with a thorough physical and neurologic examination upon enrollment. This initial outpatient evaluation will include ophthalmologic examination, auditory and vestibular testing, magnetic resonance imaging with contrast of the craniospinal axis, NF2 gene testing and serum biomarker testing. In patients with spinal cord tumors, gait testing will also be performed.

Subjects will be followed as outpatients for five years, during which clinical, radiologic and serum biomarker evaluation will be performed every six months. Auditory testing will be performed annually. Patients with spinal cord tumors will be followed annually with gait testing. Ophthalmologic evaluation will be performed every one to two years, depending on the severity of ocular lesions. Vestibular testing will be repeated if balance dysfunction develops. If clinical symptoms attributable to any NF2-associated lesion are progressive in nature or warrant treatment intervention, testing may be repeated more frequently.

Outcome measures

Based on data derived from this study, we hope to identify factors that predict tumor development, forecast tumor growth and that underlie symptom formation. These findings should permit the safer treatment of the subset of tumors that will cause symptoms and avoid the unnecessary treatment of lesions that will remain stable (not requiring treatment) in these patients. Moreover, this prospective natural history study should be useful in identifying the stochastic factors that underlie the biology of these tumors.

  Eligibility

Ages Eligible for Study:   8 Years to 75 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:
  • All patients will have the clinical diagnosis of NF2 by established clinical criteria or genetic testing.
  • Males and females between the ages of 8 and 75.
  • Capacity to undergo serial MRI scanning of the CNS.

EXCLUSION CRITERIA:

  • Clinically unstable condition that precludes serial clinical and imaging evaluation (i.e. Class 3 congestive heart failure, severe chronic renal insufficiency, severe chronic obstructive pulmonary disease).
  • Allergy or relative contraindications to MRI contrast agents.
  • 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.
  • Patients with severe chronic renal insufficiency (glomerular filtration rate less than 30 mL/min/1.73 m2), hepatorenal syndrome or post-liver transplantation.
  • Patients who are pregnant at time of intake visit.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00598351

Contacts
Contact: Patient Recruitment and Public Liaison Office (800) 411-1222 prpl@mail.cc.nih.gov
Contact: TTY 1-866-411-1010

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

NIH Clinical Center Detailed Web Page  This link exits the ClinicalTrials.gov site

Publications:
Study ID Numbers: 080044, 08-N-0044
Study First Received: January 10, 2008
Last Updated: July 18, 2008
ClinicalTrials.gov Identifier: NCT00598351  
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Meningioma
Ependymoma
Schwannoma
Acoustic Neuroma
Vestibular Schwannoma
Neurofibromatosis Type 2
NF2

Study placed in the following topic categories:
Vestibulocochlear Nerve Diseases
Otorhinolaryngologic Neoplasms
Spinal Cord Diseases
Neuroma, Acoustic
Retrocochlear Diseases
Central Nervous System Neoplasms
Acoustic neuroma
Brain Diseases
Neurodegenerative Diseases
Ear Diseases
Ependymoma
Neurofibromatosis 1
Neurofibromatosis 2
Heredodegenerative Disorders, Nervous System
Neurofibroma
Neuromuscular Diseases
Neoplasms, Germ Cell and Embryonal
Neuroepithelioma
Meningioma
Nervous System Neoplasms
Neurocutaneous Syndromes
Otorhinolaryngologic Diseases
Central Nervous System Diseases
Neurilemmoma
Neurofibromatosis type 1
Neurofibromatosis type 2
Neuroendocrine Tumors
Brain Neoplasms
Neuroectodermal Tumors
Neoplastic Syndromes, Hereditary

Additional relevant MeSH terms:
Neoplasms
Neoplasms by Histologic Type
Pathologic Processes
Neoplasms by Site
Disease
Neoplasms, Nerve Tissue
Nervous System Diseases
Cranial Nerve Neoplasms
Cranial Nerve Diseases

ClinicalTrials.gov processed this record on January 14, 2009