According to a story from Esmo, the results of a recent phase 2 clinical trial bode well for pediatric and adolescent patients with neurofibromatosis type 1 (NF-1), a rare genetic disorder. The study was testing the drug selumetinib, an inhibitor of MEK, as a treatment for patients with this disorder that were experiencing symptoms of plexiform neurofibromas, a type of tumor that can appear with the disease that causes pain and other symptoms. About half of all patients with the disorder experience these tumors and they can lead to troublesome complications.
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 The Trial
In neurofibromatosis type 1, a pathway called RAS is overactivated. This characteristic makes MEK inhibitors a logical treatment approach. The study included a total of 50 patients under age 18 that had plexiform neurofibroma tumors that could not be removed with surgery. 70 percent of patients treated with selumetinib had a partial response. The majority of the patients that had a partial response had a response that was considered durable, meaning it lasted longer than a year.
Patients saw improvements in a number of different characteristics, such as range of motion, pain, physical strength, and health-related quality of life. Five patients had to halt the treatment because of adverse effects, and six patients saw disease progression despite treatment.
Check out the original study here.