An international leader in advancing neurofibromatosis research, UAB serves as the national coordinating center for the NF Clinical Trials Consortium. This collaborative group of 15 primary and 10 affiliate clinical centers across the country and in Australia is dedicated to conducting clinical trials of the most promising drug therapies for all forms of neurofibromatosis. Formed in 2006 with funding from the U.S. Army Medical Research and Material Command, the Consortium helps to accelerate the pace of research by providing the opportunity for patients to participate in clinical trials at sites around the country.

Testing of Mechanism-Based and Genome-Guided Therapeutics

Identification of the genes associated with NF1, NF2, and some forms of schwannomatosis has paved the way for the testing of medications that may be effective in preventing or treating complications of neurofibromatosis. In NF1, many of these medications work by blocking a specific cell signaling pathway called Ras/MAPK that is hyperactive in cells that have lost NF1 function due to gene mutation.

When this signaling pathway becomes altered, cells respond with uncontrolled growth and increased capability to invade surrounding tissues. Therapeutic approaches for NF1 focused on blocking the Ras/MAPK signaling pathway have led to exciting advances, such as the development of MEK inhibitor drugs such as selumetinib, that has been approved by the FDA as a treatment for plexiform neurofibromas in children. New medications currently being tested in clinical trials block altered cell signaling pathways, providing a potential means of shrinking existing neurofibromas or preventing others from growing.

The UAB NF Research Program is also focused on the development of genome-guided therapeutics, a promising area of NF research that has the goal of restoring function to the mutated NF1 gene or gene product. Several preclinical research initiatives currently underway at UAB are using various approaches in testing the effectiveness of drug compounds in cell cultures and in animal models to restore function to the mutated NF1 gene. These preclinical studies may serve as a foundation for future clinical trials to test the effectiveness of genome guided therapeutics in people with NF.