Actively Recruiting
Natural History Study of Patients With Neurofibromatosis Type 2
Led by National Institute of Neurological Disorders and Stroke (NINDS) · Updated on 2026-05-01
269
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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. ...
CONDITIONS
Official Title
Natural History Study of Patients With Neurofibromatosis Type 2
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Have a diagnosis of NF2 by established clinical criteria or genetic testing
- Be between 8 and 75 years old
- Be able to undergo repeated MRI scans of the central nervous system without intravenous sedation
- Be able to give informed consent, or have a parent able to provide consent if a child
You will not qualify if you...
- Have an unstable medical condition that prevents repeated clinical and imaging evaluations (such as severe heart failure, severe kidney disease, or severe lung disease)
- Cannot have MRI scans due to allergy or contraindications to MRI contrast agents or metal implants like pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, or artificial heart valves
- Have auditory brainstem implants or cochlear implants not approved for use in NIH MRI scanners
- Have severe chronic kidney failure (glomerular filtration rate less than 30 mL/min/1.73 m2), hepatorenal syndrome, or have had a liver transplant
- Are pregnant at the time of the intake visit (women of childbearing age will have a urine pregnancy test)
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
C
Christina P Hayes, C.R.N.P.
CONTACT
P
Prashant Chittiboina, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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