The Very First Treatment for Neurofibromatosis Type 1 Has Been Approved by the FDA


Neurofibromatosis is a rare condition that presents in different forms. Neurofibromatosis type one (NF1) causes tumors to grow on the plexiform neurofibromas, a type of nerve in the body. These tumors are painful and can be a debilitating consequence of the disease.

A new treatment has just been approved by the FDA for NF1, and researchers are hopeful that it will lead to new treatment options for all forms of this rare disease.


Koselugo is the very first approved therapy for NF1. It is a MEK inhibitor which works by targeting various signaling pathways in cells. These pathways are responsible for not only ensuring cells survive, but for allowing them to grow. Previously, MEK inhibitors have been found to be successful in treating cancer. Now, its been found to decrease the size of the tumors caused by NF1.

The first promising result regarding this type of treatment in NF1 was in 2015 by Brigitte Widemann.

In clinical trials, tumors were reduced in size from between 20-60%. This visual reduction was present in more than 70% of patients. Additionally, patient’s pain was significantly decreased. They had improved mobility, physical function, and an overall betterment of their quality of life.

Looking Forward

Clinical trials like these have brought hope to the community. The progress in this disease has been slow going. Back in 1900, it was first discovered that this disease was hereditary. But proper criteria for diagnosis wasn’t created for another 88 years. The specific gene causing NF1 wasn’t discovered until 1990.

Now, there are many ongoing clinical trials with other MEK inhibitors which could potentially serve as a treatment option for these patients. These trials are for patients with NF1 and other forms of the disease. The number of pharmaceutical companies interested in neurofibromatosis has grown since this success of Koselugo, and NF patients are hopeful for the future.

You can read more about this new approval here.

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