New Treatments & Clinical Trials for Neurofibromatosis

Neurofibromatosis includes NF1, NF2, and schwannomatosis — genetic conditions causing nerve tumors throughout the body. NF1 affects roughly 1 in 3,000 people and produces skin spots, bone changes, and neurofibromas that can press on organs or nerves. NF2 and schwannomatosis are rarer and cause tumors affecting hearing, balance, and spinal nerves. Until recently, surgery was the main option.

What's actually going on in research

Trials are testing MEK inhibitors that shrink plexiform neurofibromas in NF1, drugs targeting the hearing tumors in NF2, and approaches to pain in schwannomatosis. Selumetinib received FDA approval in 2020 for inoperable plexiform neurofibromas in children with NF1. Researchers are also studying whether MEK inhibitors help cutaneous neurofibromas, learning problems, and other NF1 complications.

What to know before you search

Eligibility typically depends on neurofibromatosis type, tumor location and size, symptoms, genetic testing results, and whether prior treatments have been tried.

What types of trials are currently open

• Drug trials for plexiform neurofibromas — Testing MEK inhibitors and other targeted drugs to shrink large nerve tumors in NF1, especially in children where tumors are growing or causing problems.
• NF2 tumor-shrinking trials — Testing drugs that might shrink vestibular schwannomas or slow their growth, preserving hearing and balance.
• Pain management trials — Testing medications for chronic pain in schwannomatosis and painful neurofibromas in NF1.
• Cognitive and learning trials — Studies of medications or interventions for learning disabilities and attention problems in NF1.
• Natural history studies — Following people with neurofibromatosis over time to understand how tumors grow, what predicts complications, and how symptoms change with age.