An investigational treatment for the genetic disorder neurofibromatosis type 1 (NF1) has been granted Orphan Drug Designation by the Food and Drug Administration (FDA).

Selumetinib is an MEK 1/2 inhibitor being developed as part of AstraZeneca and Merck’s oncology collaboration. NF1 has no known cure and carries highly-variable symptoms including cutaneous, neurological, and orthopedic manifestations.

Plexiform neurofibromas (PNs), a neurological manifestation, occur in 20-50% of NF1 patients. These can cause pain, motor dysfunction and disfigurement. Mutations in the NF1 gene may result in dysregulation in RAS/RAF/MEK/ERK signaling, which can result in PN growth. By inhibiting the MEK enzyme, selumetinib may inhibit PNs. 

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Selumetinib is currently being examined in a National Cancer Institute-sponsored phase 1/2 SPRINT trial. Participants include children with symptomatic NF1-related PNs. The results are expected at some point later in 2018. The treatment has previously been granted Orphan Drug Designation for stage 3/4 differentiated thyroid cancer (DTC). 

“This is an important collaborative effort with our colleagues at AstraZeneca addressing an area of significant unmet medical need to potentially benefit patients with neurofibromatosis type 1,” said Dr. Roy Baynes, SVP, CMO of Merck Research Labs.

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