FDA Approves a Treatment for Neurofibromatosis Type 1 for the First Time Ever

A press release from the US Food and Drug Administration (FDA) recently announced the approval of the drug selumetinib (marketed as Koselugo) for the treatment of patients aged two years or older with the rare genetic disorder neurofibromatosis type 1 (NF-1). Koselugo will be the first ever treatment for this disorder to be officially approved by the agency.

About Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF-1) is a genetic disorder that has an impact on a number of the human body’s functional systems. NF-1 is caused by a mutation of a gene located on chromosome 17 which is responsible for the production of the protein neurofibromin. This mutation can be heritable, but about half of cases are the result of spontaneous mutation. Symptoms of NF-1 include epilepsy, tumors affecting the nervous system and skin, spots on the skin, scoliosis and other skeletal deformations, learning and mental impairment, and vision disorders. People with the disorder also have greater risk of cardiovascular disease and cancer compared to unaffected people. The severity of symptoms can vary greatly; some people live fairly typical lives, whereas others are faced with serious quality of life challenges. There is no cure, and treatment generally involves managing serious symptoms and complications as they appear. To learn more about NF-1, click here.

About Koselugo

The drug is intended for patients that face one of the most unpleasant complications of the disease: plexiform neurofibromas, a type of tumor that grows along nerve sheaths. They can appear almost anywhere in the body and can cause pain. As many as half of NF-1 patients are affected by them. Koselugo acts as a kinase inhibitor, allowing it to block the activity of a certain enzyme that contributes to the growth of these tumors. 

The approval of Koselugo follows the results of a clinical trial that tested it in patients with inoperable plexiform neurofibromas. While the drug did not cause the tumors to disappear in any patients, it produced an overall response rate of 66 percent. This was defined in the trial as a reduction in tumor volume by at least 20 percent. 82 percent of patients had a response lasting a year or longer.

With approval, NF-1 patients facing the painful and disfiguring effects of plexiform neurofibromas will now have an all new option to control their tumors.

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