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Protocol Details

A Prospective Natural History Study of Patients with Neurofibromatosis Type 2 (NF2)

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

08-N-0044

Sponsoring Institute

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 8
Max Age: 75

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Meningioma;
Ependymoma;
Schwannoma;
Acoustic Neuroma;
Vestibular Schwannoma

Recruitment Keyword(s)

Neurofibromatosis Type 2;
NF2

Condition(s)

Spinal Cord Disease;
Intracranial Central Nervous System Disorder;
Neurologic Disorders;
Brain neoplasms

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Neurological Disorders and Stroke

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.

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Eligibility

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).


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Citations:

Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.Nature. 1993 Jun 10;363(6429):515-21.

Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 1993 Nov 19 (4):826.

Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R. A clinical study of type 2 neurofibromatosis. Q J Med. 1992 Aug;84(304):603-18.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Prashant Chittiboina, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)
BG 10 RM 3D04
10 CENTER DR
BETHESDA MD 20814
(301) 594-6053
prashant.chittiboina@nih.gov

Gretchen C. Scott, R.N.
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health
Building 10
Room 3D20
10 Center Drive
Bethesda, Maryland 20892
Not Listed
nf2@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00598351

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