Natural History Study of Patients With Neurofibromatosis Type 2

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Study ID
NCT00598351
Status
Recruiting
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Conditions

  • Neurofibromatosis

Eligibility Criteria

Sex
ALL
Age
8 Years - 75 Years
Healthy Volunteers
Not accepted

Study Details

Objective With this prospective natural experiment trial 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. 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. ...

Key Dates

Start date
Mar 21, 2008
Status verified
Feb 2026

Study Design

Enrollment
269 participants (estimated)

Arms

  • Arm: Patients
    Patients must have the diagnosis of NF2 by established clinical criteria or genetic testing.

Primary Outcome Measure

To determine the natural history (clinical and radiographic) of nervous system tumors in NF2 [ Time Frame: annual for up to 10 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892-

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National Institutes of Health Clinical Center· Bethesda, MD

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