Disease Directory Neurofibromatosis Type 2
Neurological

Neurofibromatosis Type 2

Also known as: NF2, bilateral acoustic neurofibromatosis, MISME syndrome, NF2 merlin deficiency

Prevalence

1-9 per 100,000 (Orphanet)

Onset

Adolescent, Adult

Type

Autosomal dominant genetic

Gene

NF2

About Neurofibromatosis Type 2

Neurofibromatosis type 2 (NF2) is caused by mutations in the NF2 tumor suppressor gene encoding merlin (schwannomin), a cytoskeletal protein. The hallmark is bilateral vestibular schwannomas causing progressive hearing loss, tinnitus, and balance problems. Patients also develop meningiomas, ependymomas, and other schwannomas throughout the nervous system. Bevacizumab has shown benefit for vestibular schwannoma growth; FAK inhibitors and MEK inhibitors are in active trials.

Common Clinical Features

Bilateral vestibular schwannomas Hearing loss and tinnitus Balance problems Meningiomas Spinal ependymomas Facial nerve palsy Cataracts

Clinical Trial Eligibility Tips

What to know before applying to Neurofibromatosis Type 2 trials.

Tumor growth rate on serial MRI (typically requiring 2 scans 6 months apart) is a standard eligibility criterion

Hearing assessment (audiogram and word recognition scores) at baseline is required — hearing preservation is a key trial endpoint

Bevacizumab treatment history and response must be documented for anti-angiogenic and alternative therapy trials

NF2 severity scale (Manchester) and Karnofsky performance status are used for trial stratification

Patient Resources

Patient Organization

Children's Tumor Foundation

Visit website ↗

Natural History Registry

NF Registry

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Orphanet

European reference resource for rare diseases (ORPHA:637)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Neurofibromatosis Type 2 trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Neurofibromatosis Type 2. Updated daily.

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