New Drug to Help Children with Neurofibromatosis Type 1

By Allison Weisman, Vera Shively and the Genetics Counseling Team at Lurie Children’s

Until recently, children with Neurofibromatosis type 1 (NF1) had few options to relieve the pain and health problems caused by the tumors that characterize this condition. A new drug called selumetinib (KOSELUGOTM) is the first approved treatment for NF1 tumors. There is hope that its development will lead to other treatment options for NF1 and related conditions in the future.

What Is NF1?

Neurofibromatosis type 1 (NF1) is a relatively common genetic condition. About 1 in 3,000 babies are born with this condition. Although signs and symptoms of NF1 vary widely, most patients experience the growth of non-cancerous (benign) tumors called neurofibromas. In some people with NF1, a more complex type of benign tumor, called a plexiform neurofibroma, can grow along the nerves in the skin, face and other parts of the body. As plexiform neurofibromas grow, they may cause severe pain, make movement difficult and interfere with regular body functions such as swallowing, breathing, urinating or having a bowel movement.

How Is NF1 Treated?

Unfortunately, there is no cure for NF1. The best way to care for a child with NF1 is to detect a possible health problem early. Usually, the earlier we find a problem, the better the treatment possibilities and outcomes. We recommend thorough routine exams to check the skin, nervous system, development/learning, growth, and vision. When children are doing well, we usually see them once every year in the NF Clinic. At this appointment, the child will have a physical exam tailored to look for NF1 complications as well as a dilated eye exam. If we have any concerns, we may recommend blood tests, x-rays, or even an MRI scan. When a new NF1 health problem is found, we connect the family with other NF1 experts at Lurie Children’s who focus on a specific complication like brain tumors or bone problems. We then all work together to ensure the best care for the child.

New NF1 Drug Treatment

Plexiform neurofibromas have always been a challenge to treat. This is because they often cannot be safely removed with surgery. In April 2020, a new drug, selumetinib (KOSELUGOTM), was approved by the Food and Drug Administration (FDA) for use in children two years of age and older. It was shown to reduce plexiform tumor size and growth in a majority of children with NF1. It works by blocking a substance in human cells that leads to the kind of unchecked cell growth that causes tumors. At Lurie Children’s, we may prescribe selumetinib for children with plexiforms that are actively causing health problems, such as making it hard to swallow or breathe. Children taking selumetinib must be monitored regularly by their doctors for common and possibly serious side effects. Selumetinib does not work well for all patients, but it represents important progress in the treatment of NF1.

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