Protocol Number: 08-N-0044

Title:

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

Number:

08-N-0044

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, 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.

Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility 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.

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

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

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. No abstract available.

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.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

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