NF2 is a rare genetic disorder that affects approximately 1/30,000 individuals globally. NF2 uniformly results in the growth of multiple tumors throughout the central and peripheral nervous systems, including schwannomas, meningiomas, and ependymomas. The cause of these tumors is a defect in the NF2 gene. The NF2 gene encodes for a protein called Merlin. Merlin functions as tumor suppressor that in healthy individuals prevents the growth of tumors.
While usually benign, these tumors result in severe morbidity and mortality in affected individuals. Tumors that grow on the hearing nerves, called vestibular schwannomas, affect almost all NF2 patients and result in hearing loss, severe balance problems, and facial paralysis. Large vestibular schwannomas can also cause death through compression of the brain stem. NF2 patients also frequently experience peripheral neuropathy and vision problems, which along with the tumors, result in a very poor quality of life. While symptoms usually appear in the teenage years, they can occur at any age, even in very young children. NF2 is an autosomal dominant disorder, which means that children of NF2 patients have a 50% chance of inheriting the disorder.
The vast majority of patients lose hearing, and many lose the ability to walk and even to see. Currently, the only available treatments are surgery and radiation to either remove or shrink tumors. Both treatment modalities carry a very high risk profile and often result in severe damage to underlying nerves. These side effects are unacceptable and there remains a huge and largely unmet medical need for NF2 patients.
Because NF2 is a progressive disorder, symptoms worsen over time. The disorder is currently severely understudied and underfunded. Every day spent not developing new treatments for NF2 is another day the children and adults with NF2 suffer and deteriorate.
Until recently, gene therapy was more of a theoretical dream than a reality. However, due to rapid medical advances, gene therapy is now becoming a possibility for many medical conditions and genetic disorders. We seek to support and fund research and clinical trials for NF2, with the goal of bringing gene therapy to those patients with NF2 who desperately need a treatment outside of surgery and radiation. For many of these patients, time is not a luxury, which is why we very much need to move these efforts forward as quickly as possible, and we can only do it with your help.