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News From the Food and Drug Administration
May 19, 2020

A New Treatment for Children With Neurofibromatosis Type 1

JAMA. 2020;323(19):1887. doi:10.1001/jama.2020.7157

Selumetinib is the first drug approved for pediatric patients aged 2 years or older with neurofibromatosis type 1 (NF1), a rare disfiguring disease.

Philip Marazzi, MD/sciencesource.com

Marketed as Koselugo, the drug is a kinase inhibitor that helps stop neurofibroma tumor growth by blocking a key enzyme. It is indicated specifically for patients with symptomatic, inoperable plexiform neurofibromas, which involve the nerve sheaths and can grow anywhere in the body, including around the spine and in areas where they may affect internal organs. Caused by a genetic abnormality, NF1 is a progressive disease that’s usually diagnosed in childhood and affects about 1 in every 3000 infants.

The approval was based on a National Cancer Institute phase 2 clinical trial that involved 50 children aged 3 to 17 years who were enrolled in 2015 and 2016. They received selumetinib twice daily on a continual basis. As of March 29, 2019, 35 patients had a confirmed partial response, including 28 whose response lasted a year or longer. Six patients had disease progression. After 1 year of treatment, more than one-third of patients also had clinically meaningful improvements in pain, health-related quality of life, strength, and range of motion.

Common adverse events were nausea, vomiting, diarrhea, acneiform rash, and paronychia. Also reported was an increase in creatine phosphokinase, which should prompt an evaluation for rhabdomyolysis. Selumetinib also may result in heart failure or ocular toxicity.