International Study Confirms Effectiveness of Selumetinib for Adults with Neurofibromatosis Type 1

An extensive international research effort has validated the use of selumetinib in treating adults suffering from neurofibromatosis type 1 (NF1), a rare genetic disorder characterized by tumor growth along nerves. The study demonstrated that this medication could significantly reduce both the size of tumors known as plexiform neurofibromas and the associated pain, marking a critical advancement in the management of this condition.

Until now, treatment options for adults with NF1 and inoperable tumors have been limited, often relying on surgical procedures that carry risks and are not always effective. This phase 3 trial is the first to establish the safety and efficacy of selumetinib in adult patients, providing hope for a pharmacological approach to manage this chronic disease.

NF1 affects approximately 1 in 3,000 people and manifests with various symptoms, including disfiguring and painful tumors that develop along nerves. While these growths are benign, they can become large, causing both functional impairment and substantial disfigurement. Surgery can sometimes remove these tumors, but due to their location and the complex nature of their growth, complete removal is often difficult.

The study, dubbed KOMET, involved 145 adult participants from different countries and was conducted between 2021 and 2024. It was a randomized, double-blind trial, which means neither the participants nor the researchers knew who received the medication or placebo at the start. Notably, participants who initially received a placebo could later access selumetinib if their tumors worsened or after completing a set number of treatment cycles, allowing researchers to evaluate the drug’s effectiveness in both early and later treatment scenarios.

Results showed that about 20% of treated patients experienced significant tumor reduction, along with a decrease in pain and a decreased reliance on pain medication. These findings suggest that selumetinib could be a vital option for reducing tumor burden and improving quality of life for adults with NF1.

The research team, led by experts at Germans Trias i Pujol Research Institute, emphasized that these results represent a substantial step forward. According to Ignacio Blanco, head of the Clinical Genomics Unit at the institute, this breakthrough offers a new possibility for pharmacologically addressing the disease's various manifestations. Previously, treatment options were largely limited to surgery, which was often complicated and not always feasible.

The study’s success underscores the importance of international collaboration and showcases the role of specialized healthcare centers like Germans Trias in leading innovative research on hereditary neurocutaneous syndromes, including NF1. The findings are published in The Lancet and highlight the potential of targeted drug therapies to revolutionize care for adults affected by this challenging condition.