New Potential Treatment for Neurofibromatosis Type 1 Given Breakthrough Therapy Designation

A new medication called selumetinib has just received Breakthrough Therapy designation by the FDA for pediatric patients diagnosed with neurofibromatosis type 1 (NF1) or inoperable pleciform neurofibromas. This therapy has been licensed since 2003 and this new designation is an exciting step in the process of actually getting the treatment to patients.

Selumetinib has been developed by the combined efforts of Merck and AstraZeneca. These companies hope that this new approval will bring expedited regulatory review to selumetinib which would speed up the process of getting the treatment to the patients who need it most.

Selumetinib has already received Orphan Drug designation by both the FDA and EMA for NF1.

Neurofibromatosis Type 1

Neurofibromatosis Type 1 is a rare genetic disease caused by mutations in the NF1 gene. Symptoms of the condition include cutaneous neurofibromas, plexiform neurofibromas, and peripheral nerve sheath tumors. These symptoms themselves can cause motor, airway, bowel, and bladder dysfunction. Many patients also face complications such as visual impairment, high blood pressure, learning difficulties, epilepsy, and curvature of the spine.

NF1 is estimated to affect one individual out of every 4,000 and there are unfortunately no medicines currently approved to treat the disease. The condition can reduce life expectancy by 15 years.

How Selumetinib Works

Selumetinib was specifically created for pediatric patients who are at least three years of age.

NF1 patients are lacking a properly functioning NF1 gene, which, in healthy patients, produces the protein called neurofibromin. This protein helps control the growth of cells, their differentiation, and their survival by negatively regulating the RAS/MAPK pathway. NF1 patients may also experience the dysregulation of ERK, RAS, RAF, or MEK signaling. This can cause tumors to grow.

Selumetinib works to inhibit MEK which researchers believe could ultimately reduce the chance or tumor growth. It is being investigated in multiple ongoing trials which are analyzing the therapy on its own and in combination with other treatments.

The trial which served as the basis for selumetinib’s new designation was a phase 2 study called SPRINT. 


The SPRINT trial was a Phase 1/2 study. The first phase of the trial aimed to determine optimal dose levels of selumetinib for the second phase.

The results from this study were published in the New England Journal of Medicine and presented at the 2018 American Society of Clinical Oncology Annual Meeting by the United States National Cancer Institute.

You can read more about this trial and selumetinib’s new designation here. Hopefully we will see this treatment become available to NF1 patients soon.

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