Neurofibromatosis Type 1 (NF1) Clinical Trials

Neurofibromatosis type 1 (NF1) is caused by loss-of-function mutations in the NF1 gene, which normally produces neurofibromin, a protein that regulates the RAS-MAPK cell signaling pathway. When neurofibromin is absent or defective, this pathway becomes overactive, driving uncontrolled cell growth and tumor formation. The hallmark features are cafe-au-lait macules (present in nearly all patients by age 1), cutaneous neurofibromas (which develop during puberty and adulthood), and plexiform neurofibromas (congenital tumors that can grow to significant size and cause pain, disfigurement, and functional impairment).

The most common symptoms of Neurofibromatosis Type 1 include Cafe-au-lait spots (flat, light brown patches on the skin appearing in early childhood), Neurofibromas (soft bumps on or under the skin) that increase in number with age, Plexiform neurofibromas (larger tumors growing along nerve bundles causing pain and disfigurement), Freckling in the armpits or groin area (Crowe sign), Optic pathway gliomas affecting vision, typically in children under 7, among others. Neurofibromatosis Type 1 affects approximately 1 in 2,500 to 3,500 people in the U.S., making it one of the most common genetic conditions. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Neurofibromatosis Type 1 from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. The treatment landscape for NF1 has changed rapidly. Selumetinib was approved in 2020 for children with symptomatic, inoperable plexiform neurofibromas and has since been expanded to children 1 year and older (September 2025) and adults (November 2025), and mirdametinib received FDA approval in February 2025 for patients aged 2 and older.

Yes. As of September 2026, Trial Friend lists 2 FDA-approved drugs used to treat Neurofibromatosis Type 1: Koselugo (selumetinib), first approved in 2020; and Gomekli (mirdametinib), first approved in 2025.

Each has its own page with what the label covers, side effects and how it is given, and the Treatments section of this page adds any further approved drugs found in FDA labeling data.

Neurofibromatosis Type 1 is caused by variants in the NF1 gene. About half of cases are de novo NF1 variants; the diagnosis can be made clinically, with NF1 testing used to confirm.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. The condition affects approximately 1 in 2,500 to 3,500 people in the U.S., making it one of the most common genetic conditions. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Neurofibromatosis Type 1 looks at the NF1 gene. About half of cases are de novo NF1 variants; the diagnosis can be made clinically, with NF1 testing used to confirm.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Neurofibromatosis Type 1 clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Neurofibromatosis Type 1 clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.