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Natural History Study of Patients With Neurofibromatosis Type 2

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ClinicalTrials.gov Identifier: NCT00598351
Recruitment Status : Recruiting
First Posted : January 21, 2008
Last Update Posted : December 9, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )

Brief Summary:

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 and balance testing, magnetic resonance imaging (MRI) scans of the brain/spine and right upper extremity, nverve conduction study and electromyography of the arms/legs, blood tests, questionnaires, and physical and neurological examinations.

MRI scans of the brain and spine every 12 months to follow the size and number of tumors.

Physical and neurological examinations, questionnaires and blood tests every 12 months.

Auditory tests every 12 months for hearing patients. 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.

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.

Primary Outcome Measures :

1. To determine the natural history (clinical and radiographic) of nervous system tumors in NF2

Secondary Outcome Measures :

  1. To identify underlying causes, and patterns or progression of speech and swallowing problems in patients with NF2.
  2. To identify imaging biomarkers of hearing loss in patients with NF2.
  3. To identify the etiology of peripheral neuropathy in patients with NF2.
  4. To identify serum biomarkers of NF2 disease progression....

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

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 269 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2)
Actual Study Start Date : March 21, 2008





Primary Outcome Measures :
  1. To determine the natural history (clinical and radiographic) of nervous system tumors in NF2 [ Time Frame: annual for up to 10 years ]
    Clinical Variables (longitudinal: measured annually for each subject)a. Subjective speech and swallowing dysfunction (binary)b. Spinal cord function:Modified ASIA Motor Scalec. Ambulatory status:modified McCormick grading scaled. Overall function:Karnofsky Performance Statuse. NFTI-QOLf. Functional Independence Measure scale MRI Variables (longitudinal: measured annually for each subject):a. Tumor volume (continuous variable) for VS tumors, meningiomas, other schwannomas, ependymomas, and Total tumor burden (number and volume). Specific growth rates of tumors.b. FLAIR hyper-intensity MRI Variables (cross-sectional: measured at baseline and as needed for each subject):c. MRI of Right Upper and Lower Extremity Laboratory testing variables (longitudinal:measured annually for each subject):a. Audiometry Laboratory testing variables (cross-sectional:measured at baseline and as needed for each subject)b. EMG/NCV study valuesc. Vestibular testing Covariate variable:a. Ageb. Sex


Secondary Outcome Measures :
  1. To identify the underlying causes, and patterns of progression of speech and swallowing problems in patients with NF2 [ Time Frame: Annual for up to 10 years ]
    Self-reported swallowing deficits (binary, yes vs no) based on the last Visit (cross-sectional data)

  2. To identify imaging biomarkers of hearing loss in patients with NF2 [ Time Frame: Annual for up to 10 years ]
    MRI Variables (longitudinal: measured annually for each subject):a. Tumor volume (continuous variable) for VS tumors, meningiomas, other schwannomas, ependymomas, and Total tumor burden(number and volume). Specific growth rates of tumors.b. FLAIR hyper-intensity MRI Variables (crosssectional: measured at baseline and as needed for each subject

  3. To identify the etiology of peripheral neuropathy in patients with NF2 [ Time Frame: Annual for up to 10 years ]
    MRI images of the Right upper extremity will be evaluated for the presence of peripheral nerve lesions at baseline. These imaging findings will be evaluated with respect to EMG/NCV results.

  4. To identify serum biomarkers of NF2 disease progression [ Time Frame: Annual for up to 10 years ]
    determination of serum biomarker status and suspected biologic markers of disease progression using quantitative immunoassay or newer proteomic approaches



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   8 Years to 75 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
subjects with a diagnosis of NF2 by established clinical criteria or genetic testing
Criteria
  • INCLUSION CRITERIA:

To be eligible for entry into the study, candidates must meet all the following criteria:

  • Have the diagnosis of NF2 by established clinical criteria or genetic testing.
  • Be between the age of 8 and 75.
  • Have the capacity to undergo serial MRI scanning of the CNS without IV sedation.
  • Able to give informed consent, or have a parent able to provide informed consent if a child.

EXCLUSION CRITERIA:

Candidates will be excluded if they:

  • Have a 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).
  • Cannot have an MRI scan due to an allergy or relative contraindication to MRI contrast agents.
  • Have prior surgery or implant that involves metal clips or wires, which might be expected to cause tissue damage or produce image artifacts such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, and artificial heart valves.
  • ABIs or cochlear implants are not approved by the NIH Radiology department for safe use on NIH scanners..
  • Have severe chronic renal insufficiency (glomerular filtration rate less than 30 mL/min/1.73 m2), hepatorenal syndrome or post-liver transplantation.
  • Are pregnant at time of intake visit (women of childbearing age will be tested with a urine pregnancy test).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00598351


Contacts
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Contact: Gretchen C Scott, R.N. Not Listed nf2@nih.gov
Contact: Prashant Chittiboina, M.D. (301) 594-6053 prashant.chittiboina@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
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Principal Investigator: Prashant Chittiboina, M.D. National Institute of Neurological Disorders and Stroke (NINDS)

Additional Information:
Publications:
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Responsible Party: National Institute of Neurological Disorders and Stroke (NINDS)
ClinicalTrials.gov Identifier: NCT00598351     History of Changes
Other Study ID Numbers: 080044
08-N-0044
First Posted: January 21, 2008    Key Record Dates
Last Update Posted: December 9, 2019
Last Verified: June 25, 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ):
Meningioma
Ependymoma
Schwannoma
Acoustic Neuroma
Vestibular Schwannoma
Neurofibromatosis Type 2
NF2
Additional relevant MeSH terms:
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Neurofibromatoses
Neurofibromatosis 1
Neurofibroma
Brain Neoplasms
Neurofibromatosis 2
Spinal Cord Diseases
Central Nervous System Diseases
Brain Diseases
Disease
Nervous System Diseases
Pathologic Processes
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms
Central Nervous System Neoplasms
Neoplasms by Site
Neuroma, Acoustic
Neurilemmoma
Neuroendocrine Tumors
Neuroectodermal Tumors