Actively Recruiting
A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2)
Led by National Institute of Neurological Disorders and Stroke (NINDS) · Updated on 2026-06-08
269
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting a prospective natural history study to better understand neurofibromatosis type 2 (NF2), focusing on factors that lead to tumor growth and neurological problems. This study includes 269 participants aged 8 to 75 who have either a clinical or genetic diagnosis of NF2. The goal is to uncover the biological causes behind speech and swallowing difficulties, hearing loss, peripheral neuropathy, and tumor burden in NF2 patients. Participants will undergo a comprehensive physical and neurological exam at the start, including MRI scans of the brain and spine with contrast, blood collection for research, and audiology tests for those with measurable hearing. Those with untreated vestibular schwannomas will have vestibular assessments. Genetic confirmation may be done if needed. A speech-language pathologist will evaluate all participants. The study will follow participants as outpatients for up to ten years with yearly clinical and radiologic evaluations, including annual auditory and vestibular testing and repeated speech and swallowing assessments if symptoms worsen. Blood samples will be collected at each visit for biomarker testing. During the study, participants will be regularly assessed through exams, imaging, hearing and vestibular tests, and blood tests to track disease progression and neurological function. Researchers will analyze MRI findings, clinical assessments, and biomarker levels to better understand NF2's impact on speech, swallowing, hearing, peripheral nerves, and tumor development. This long-term follow-up aims to identify imaging and serum biomarkers associated with disease burden and progression in NF2.
CONDITIONS
Brief 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 clinical criteria or genetic testing
- Be between 8 and 75 years old
- Able to undergo serial MRI scans of the central nervous system without sedation
- Able to give informed consent, or have a parent provide consent if a child
You will not qualify if you...
- Have an unstable medical condition that prevents serial clinical and imaging evaluations (e.g., severe heart failure, severe kidney or lung disease)
- Cannot have MRI scans due to allergy or metal implants like pacemakers or aneurysm clips
- Have auditory brainstem implants or cochlear implants not approved for MRI use
- Have severe chronic kidney problems, hepatorenal syndrome, or post-liver transplant
- Are pregnant at the time of the initial visit (women will have a urine pregnancy test)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Initial evaluation visit
Participants undergo a thorough physical and neurologic examination including MRI scans of the brain and spine, blood collection, audiology, vestibular assessments, and speech and swallowing evaluation during an initial outpatient visit.
1 visit (in-person)
Duration - Up to 10 years
Participants are followed as outpatients for up to 10 years with annual clinical, radiologic, auditory, vestibular, speech, swallowing assessments, and blood collection to study the progression of NF2.
Annual visits for up to 10 years
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.
P
Prashant Chittiboina, M.D.
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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