Potential Treatment for Neurofibromatosis Type 1 Shows Capability in Clinical Trial

According to a story from cancernetwork.com, the experimental drug selumetinib, which is currently licensed to AstraZeneca, has showed positive results in the phase 2 clinical trial. In this study, the drug was tested as a treatment for plexiform neurofibroma tumors associated with neurofibromatosis type 1, a rare genetic disorder. There are currently no approved treatments for this indication. Up to half of patients with this disorder will develop these tumors, which have the potential to transform into an aggressive cancer.

About Neurofibromatosis Type 1

Neurofibromatosis Type I (NF-1) is a genetic disorder that has 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.

Trial Findings

The clinical trial included a total of 26 patients with NF-1 that were between 18 and 60 years old. Treatment consisted of twice per day selumetinib in 28 day cycles at a dose level of 50 mg. 21 patients were deemed evaluable and 71 percent of them had a partial response to the drug; the target response rate was 45 percent. Four of the patients chose to discontinue treatment because of adverse effects or other issues.

Overall, these findings suggest that selumetinib could be a useful therapy for plexiform neurofibroma tumors in adult patients. Hopefully similar results can be replicated in children as well.

Selumetinib is classified as an MEK-inhibitor that is being studied for the treatment of certain types of cancer, such as lung cancer, thyroid cancer, ovarian cancer, melanoma, and more.


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