New Treatments & Clinical Trials for Neurofibromatosis

Neurofibromatosis includes several genetic conditions that cause tumors to grow along nerves. NF1, the most common form, affects about 1 in 3,000 people and can cause skin spots, nerve tumors, learning differences, and bone problems. NF2 causes tumors on hearing and balance nerves, often leading to hearing loss. Treatment has historically been surgery to remove tumors, but targeted drugs approved in recent years now offer alternatives.

What's actually going on in research

Trials are testing MEK inhibitors like selumetinib (already approved for NF1 plexiform neurofibromas in children) in new settings, mTOR inhibitors for NF2 tumors, and drugs targeting the PD-1 pathway. Researchers are studying when to start treatment, how to prevent tumors from forming, and whether combination approaches work better than single drugs.

What to know before you search

Eligibility often depends on NF type, tumor location and size, prior treatments, age, and whether tumors are causing symptoms or growing.

What types of trials are currently open

• Tumor shrinking trials — Testing MEK inhibitors and other targeted drugs to see if they can shrink plexiform neurofibromas or schwannomas without surgery.
• Prevention trials — Testing whether drugs can stop new tumors from forming or slow tumor growth when started early.
• Symptom trials — Studies of treatments for pain, itching, learning differences, and other symptoms of neurofibromatosis.
• Combination therapy trials — Testing whether combining MEK inhibitors with other drugs works better than either alone.
• Natural history studies — Following people with neurofibromatosis over time to understand how tumors grow and what factors predict complications.