Neurofibromatosis 2 (NF2)

What is NF2?
NF2 is a genetic disorder which causes benign, slow growing tumors, primarily in the central nervous system. The hallmark of NF2 is bilateral vestibular schwannomas, which are noncancerous tumors on the main nerve leading from the inner ear to the brain. Since th main nerve affected is responsible for carrying balance and hearing information from the inner ear to the brain, patients experience hearing loss and balance issues, in addition to cataracts, pain and weakness in extremities and neurological impairments. More information about NF2 may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/7193/neurofibromatosis-type-2

What is the prevalence of NF2?
The estimated incidence of NF2 is 1 in 33,000 people worldwide.

How is NF2 diagnosed?
NF2 is diagnosed based on clinical evaluation, patient history, specialized testing including CT scans and MRIs, and is confirmed via genetic tests.

Is there any specific gene/pathway in NF2 that has been identified?
NF2 is caused by a mutation in the NF2 gene on chromosome 22, which regulates the production of a protein which helps suppress the development of certain tumors.

How is NF2 treated?
There is currently no cure for NF2. Treatment is centered around a ‘watch and wait’ approach with yearly MRI scans and hearing and vision tests as needed. Should there be a risk of tumors which may cause neurological damage, surgery may be recommended. Treatment of hearing loss often includes an auditory brainstem implant, if the auditory nerve is still intact. More information on treatment may be found here: https://rarediseases.org/rare-diseases/neurofibromatosis-2/

Are there any clinical trials underway for NF2?
The National Institutes of Health (NIH) has completed 27 clinical trials for NF2. Currently, there are 20 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=nf2&Search=Apply&recrs=e&age_v=&gndr=&type=&rslt=

How can RareShare be helpful to NF2 patients and families?
The NF2 community has 8 members. There are currently 0 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in NF2 and provide them continual access to community resources.