Overview
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder caused by mutations in the NF1 tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK signaling pathway. MEK inhibitors are the standard of care for symptomatic inoperable plexiform neurofibromas (PN): selumetinib (Koselugo, approved April 2020 for pediatric patients) and mirdametinib (Gomekli, approved February 2025 for adults and pediatric ≥2).
Clinical phenotype terms— hover any for plain English:
Autosomal dominant, NF1 gene (chromosome 17q11.2); ~50% de novo mutations
Congenital/early childhood; café-au-lait spots may be present at birth
FDA & Trial Timeline
10 eventsPRG Science & Technology Co., Ltd. — PHASE1, PHASE2
National Cancer Institute (NCI) — NA
Massachusetts General Hospital — NA
Johns Hopkins University — PHASE1
St. Justine's Hospital — PHASE1, PHASE2
AstraZeneca — NA
Shanghai Fosun Pharmaceutical Industrial Development Co. Ltd. — PHASE1, PHASE2
AstraZeneca — NA
Pasithea Therapeutics Corp. — PHASE1
National Cancer Institute (NCI) — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
2 availableGomekli
Adult and pediatric patients aged 2 years and older with neurofibromatosis type 1 (NF1) who have symptomatic plexiform neurofibromas not amenable to complete resection. Approved based on the ReNeu Pha…
Adult and pediatric patients aged 2 years and older with neurofibromatosis type 1 (NF1) who have symptomatic plexiform neurofibromas not amenable to complete resection. Approved based on the ReNeu Phase 2b trial (JCO 2025;43(6):716-729): ORR 41% adults, 52% pediatric. Significant pain reduction and QoL improvement. First MEK inhibitor approved for both adult and pediatric NF1-PN.
Koselugo
Pediatric patients 2 years and older with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable plexiform neurofibromas. Initially approved April 10, 2020. CONTEXT: selumetinib was initially…
Pediatric patients 2 years and older with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable plexiform neurofibromas. Initially approved April 10, 2020. CONTEXT: selumetinib was initially approved only for pediatric patients — adult NF1-PN patients had no approved treatment until mirdametinib (Gomekli) in February 2025.
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Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Children's Hospital Colorado
📍 Aurora, Colorado
👤 Zachary Grinspan, MD
Arkansas Children's Hospital
📍 Little Rock, Arkansas
Boston Children's Hospital
📍 Boston, Massachusetts
Massachusetts General Hospital
📍 Boston, Massachusetts
👤 Matthew Frigault, MD
👤 Janssen Research & Development, LLC Clinical Trial
Children's Hospital of Orange County
📍 Orange, California
👤 Richard Neibeger, MD
Children's Hospital of Philadelphia
📍 Philadelphia, Pennsylvania
👤 Study Director
👤 Richard Neibeger, MD
Children's National Medical Center
📍 Washington D.C., District of Columbia
👤 Richard Neibeger, MD
Financial Resources
2 resources5 travel grants are also available for Neurofibromatosis type 1 patients — see Travel Grants below ↓
Travel Grants
5 grantsPAN: Neurofibromatosis (Premium Assistance)
This program provides premium assistance to insured residents of the US or Puerto Rico being treated for neurofibromatosis. Applicants must have commercial, Medicare, or Medicaid insurance and meet needs-based criteria for a $4,700 annual benefit.
PAN Foundation Neurofibromatosis Patient Assistance Grant
PAN Foundation
Patients must be receiving treatment for neurofibromatosis within the United States and possess health insurance that covers their prescribed medication. Financial eligibility requires a household income at or below 400% of the Federal Poverty Level.
Assistance Fund: Neurofibromatosis
Eligible applicants must be residents of the United States or Puerto Rico and possess commercial insurance, Medicare, or Medicaid. This is a needs-based program requiring enrollment and verification of demographic, insurance, and financial information.
The Assistance Fund (TAF) Neurofibromatosis Financial Assistance Program
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1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Neurofibromatosis type 1
What is Neurofibromatosis type 1?
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder caused by mutations in the NF1 tumor suppressor gene encoding neurofibromin, a negative regulator of the RAS/MAPK signaling pathway. MEK inhibitors are the standard of care for symptomatic inoperable plexiform neurofibromas (PN): selumetinib (Koselugo, approved April 2020 for pediatric patients) and mirdametinib (Gomekli, approved February 2025 for adults and pediatric ≥2).
How is Neurofibromatosis type 1 inherited?
Neurofibromatosis type 1 follows a autosomal dominant, nf1 gene (chromosome 17q11.2); ~50% de novo mutations inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Neurofibromatosis type 1 typically begin?
Typical onset of Neurofibromatosis type 1 is congenital/early childhood; café-au-lait spots may be present at birth. Age of onset can vary across affected individuals.
Are there clinical trials for Neurofibromatosis type 1?
Yes — 20 recruiting clinical trials are currently listed for Neurofibromatosis type 1 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Neurofibromatosis type 1?
25 specialists and care centers treating Neurofibromatosis type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Neurofibromatosis type 1?
1 FDA-approved treatment and 2 patient support programs are currently tracked on UniteRare for Neurofibromatosis type 1. See the treatments and support programs sections for copay assistance, eligibility, and contact details.