Neurofibromatosis type 1 and type 2, affecting both children and adults, often results in devastating complications. The rapid unravelling of the genetic underpinnings of these unique disorders has led to the development of novel therapies, especially molecular-targeted therapies. To facilitate clinical trial development, the Neurofibromatosis Clinical Trial Consortium (NFCTC) was established in 2006 by the Department of Defense. Over the past decade, the Consortium has successfully completed studies for children and adults with neurofibromatosis type 1 and plexiform neurofibromas, neurocognitive challenges, low-grade gliomas, and malignant peripheral nerve sheath tumors. In addition, a study for children and adults with neurofibromatosis type 2 and acoustic schwannomas is near completion. The NFCTC has now been expanded to 19 sites in the United Stated and Australia. Mechanisms have been put in place to work closely with other consortia, foundations, and industry to expeditiously translate preclinical discoveries into clinical trials.
Keywords: brain tumor; cognition; genetics; neuroimaging; ophthalmology; treatment.