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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;
Spinal Cord Tumor;
Vestibular Schwannoma

Recruitment Keyword(s)

None

Condition(s)

Neurofibromatosis

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Neurological Disorders and Stroke

Objective

With this prospective natural history study on neurofibromatosis type 2 (NF2) study, we hope to understand the factors leading to tumor progression and neurological disease burden in NF2.

Study Population

A total of 269 participants, 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 magnetic resonance imaging with contrast of brain and spine and blood collection for research use. Participants with measurable hearing will have audiology assessment performed during the initial visit. Participants with untreated vestibular schwannomas will have vestibular assessment performed during the initial visit. Genetic studies performed outside will be acceptable as confirmation of NF2 in enrolled patients. If needed to confirm NF2 with genetic studies, or for research purpose, whole genome/whole exome sequencing may be performed on blood obtained from subjects enrolled in this study. All participants will be evaluated by a speech language pathologist.

Subjects will be followed as outpatients for up to ten years, during which clinical, and radiologic evaluation will be performed annually. Auditory testing will be performed annually for participants with measurable hearing. Participants with initially untreated vestibular schwannomas will be followed annually with vestibular testing. Speech and swallowing reassessments will be repeated if worsening of speech or swallowing is reported. Blood will be collected at each visit for blood biomarker testing

Outcome measures

We hope to understand the biologic basis for speech and swallowing dysfunction in patients with NF2. We will study and report the strength of association of MRI findings, clinical assessments cranial nerve deficits and speech/swallowing dysfunction. We hope to

identify imaging biomarkers of hearing loss in NF2. We will attempt to discover the mode of peripheral neuropathy in patients with NF2. Lastly, we will attempt to discover previously unknown serum biomarkers associated with high tumor burden in NF2.

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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:

Not Provided

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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 3D20
10 CENTER DR
BETHESDA MD 20814
(301) 496-2921
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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