NCT00598351

Natural History Study of Patients With Neurofibromatosis Type 2

Recruiting now Last updated 14 April 2026

What this trial tests

trial in Neurofibromatosis in 269 participants. Currently enrolling.

Timeline

21 March 2008

Quick facts

Lead sponsor	National Institute of Neurological Disorders and Stroke (NINDS)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	269
Start date	21 March 2008
Sites	1 location across United States

Conditions studied

• Neurofibromatosis — all drugs for Neurofibromatosis →

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Who can join

Adults 8 to 75, any sex, with Neurofibromatosis. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

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Publications & conference data

5 peer-reviewed publications reference this trial (live from Europe PMC):

1. Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.
   Dewan R, Pemov A, Kim HJ, Morgan KL, et al · · 2015 · cited 50× · PMID 25452392 · DOI 10.1093/neuonc/nou317
2. Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.
   Pemov A, Dewan R, Hansen NF, Chandrasekharappa SC, et al · · 2020 · cited 22× · PMID 32724039 · DOI 10.1038/s41598-020-69074-z
3. Audiologic Natural History of Small Volume Cochleovestibular Schwannomas in Neurofibromatosis Type 2.
   deTorres AT, Brewer CC, Zalewski CK, King KA, et al · · 2018 · cited 6× · PMID 29342057 · DOI 10.1097/mao.0000000000001690
4. Intralabyrinthine MRI FLAIR as a predictive marker for hearing loss in vestibular schwannomas in Neurofibromatosis Type 2.
   Walker RL, Laws MT, Kim HJ, Zalewski C, et al · · 2026 · PMID 41586863 · DOI 10.1007/s11060-026-05422-9
5. A Prospective Evaluation of Swallowing and Speech in Patients with Neurofibromatosis Type 2.
   Rajendran S, Antonios J, Antonios J, Solomon B, et al · · 2021 · PMID 33777639 · DOI 10.1055/s-0039-1694054