About Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is one of the most common single-gene neurological disorders, caused by mutations in the NF1 tumor suppressor gene encoding neurofibromin, a Ras-GTPase activating protein. Clinical features include cafe-au-lait macules, cutaneous and plexiform neurofibromas, Lisch nodules (iris hamartomas), optic pathway gliomas, and learning disabilities. Malignant peripheral nerve sheath tumors (MPNSTs) are a serious complication. Selumetinib (Koselugo) is approved for plexiform neurofibromas.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Neurofibromatosis Type 1 trials.
Selumetinib (Koselugo) is approved for plexiform neurofibromas — prior MEK inhibitor therapy must be disclosed for trial eligibility
Tumor volumetric MRI measurement of target plexiform neurofibromas is the standard eligibility and efficacy endpoint
Optic glioma trials require ophthalmological assessment including visual acuity and visual field testing at baseline
NF1 genotype class (truncating vs. missense vs. whole-gene deletion) can affect phenotype severity and should be documented
Patient Resources
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