554 Sirolimus gel effectively reduced neurofibromas in neurofibromatosis type 1 in a double-blind, placebo-controlled, randomized clinical trial

NF1 is an autosomal dominant inherited disease caused by the mutation of NF1 gene coding neurofibromin. Although many symptoms with wide variations are recognized, neurofibromas and caf é-au-lait spots are observed in nearly 100% of patients. Neurofibromin is a tumor suppressor and suppress RAS-MAPK and PI3K-mTOR signaling pathway. Although several clinical trials in NF1 patients have been conducted with RAS-MAPK inhibitors, they are not constantly effective for tumor suppression but resulted in severe side effects.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Interventional Studies, Clinical and Patient Outcomes Research Source Type: research