View Clinical Trial (Medical Research Study)
A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2)
| City: |
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Bethesda |
| State: |
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Maryland |
| Zip Code: |
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20892 |
| Conditions: |
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Spinal Cord Disease - Intracranial Central Nervous System Disorder - Neurologic Disorders - Brain Neoplasms |
| Purpose: |
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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.
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| Study Summary: |
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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, magnetic resonance imaging with contrast of the craniospinal axis, NF2 research
blood procurement and serum biomarker testing. Patients with measurable hearing will have
audiology assessment performed during the initial visit. Patients with untreated vestibular
schwannomas will have vestibular assessment performed during the initial visit.
Patients with tumors that affect speech and swallowing production will be seen by a speech
language pathologist at the following visit, where a standard clinical assessment of speech
and swallowing function will be done. In patients with tumors that affect independent
functioning associated with activities of daily living, a physical therapy and occupational
therapy assessment will be performed at the following visit.
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 for patients with measurable hearing. Patients with initially untreated
vestibular schwannomas will be followed annually with vestibular testing. Ophthalmologic
evaluation will performed every one to three years, depending on the severity of ocular
lesions. Peri-operative speech and swallowing reassessments will be performed as medically
indicated, when tumors that may affect these abilities are treated. Functional status
testing will be repeated peri-operatively and annually thereafter when tumors that may
affect independent functioning are treated.
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.
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| Criteria: |
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- 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.
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| NCT ID: |
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NCT00598351 |
| Primary Contact: |
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Principal Investigator
Ashok R Asthagiri, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)
Gretchen C Scott, R.N.
Phone: Not Listed
Email: nf2@nih.gov
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| Backup Contact: |
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Email: asthagiria@ninds.nih.gov
Ashok R Asthagiri, M.D.
Phone: (301) 496-2921
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| Location Contact: |
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Bethesda, Maryland 20892
United States
For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)
Phone: 800-411-1222
Email: prpl@mail.cc.nih.gov
Site Status: Recruiting |
| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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May 23, 2013 |
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