Therapeutics: Neurofibromin 1 (NF1)

Mouse studies suggest MEK inhibitors could help treat neurofibromatosis type 1, which is caused by loss-of-function mutations in the tumor suppressor gene NF1. In neonatal mice with neuronal precursor-specific knockout of NF1, treatment with the MEK inhibitor PD0325901 during the first 3 weeks of life decreased neurofibromatosis-associated accumulation of abnormal neurons in the cerebellum by more than 60% compared with vehicle. In this model, PD0325901 treatment improved motor performance on a rotorod test compared with vehicle. Next steps include testing less potent and safer MEK inhibitors in NF1-associated developmental disorders in the brain...