The neurofibromatoses are a group of three distinct dominantly inherited disorders, NF1, NF2, and schwannomatosis. There is no definitive treatment for the various complications of neurofibromatosis, with management currently limited to surveillance and symptomatic treatment. Advances in the understanding of how the various complications of NF1, NF2, and schwannamatosis come about are increasingly making it possible to develop new drugs or identify existing drugs that may be helpful in treating these complications; however, the complex nature of the disorders and their unpredictable natural history make it difficult to choose treatment targets, define endpoints for treatments, and identify patients for treatment before disease progression has occurred. The Neurofibromatosis Clinical Trials Consortium (NFCTC) was established to overcome these barriers. The Consortium consists of Operations Center at the University of Alabama at Birmingham and currently 18 patient recruitment sites. In its first 5 years, the NFCTC consisted of nine patient recruitment sites, launched three clinical trials within the Consortium, one additional trial in collaboration with the Sarcoma Alliance for Research through Collaboration (SARC), and one ancillary study.
In the second grant cycle (2012-2017), the Consortium has expanded to 18 sites, opened five studies (in spite of being funded to open four), initiated a second collaborative study with SARC, and has another soon to begin. The Operations Center has moved to an all-electronic system of data capture and is the IND (Investigational New Drug) holder for three clinical trials. The NFCTC has maintained an active dialog with the Children's Tumor Foundation/Neurofibromatosis Therapeutic Acceleration Project Preclinical Consortium to identify new active agents to accelerate their entry into clinical trials and has worked closely with the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) initiative to incorporate state-of-the-art endpoints into the design of our clinical trials. We anticipate opening one trial for patients with NF1 and plexiform neurofibroma and one for patients with NF2 and vestibular schwannoma in the first year, and have a list of additional trials to choose from in subsequent years, depending on availability of funding. As in the past, we expect to exceed the required four trials by leveraging the NFCTC infrastructure to partner with other groups, including other grant funding agencies, the pharmaceutical industry, and private philanthropy.