Neurofibromatosis type 1 (NF1) is a common genetic disease that affects approximately 1 in 3,500 persons. Many of the more common complications of NF1, such as the development of neurofibromas and developmental/learning disabilities, take great tolls on patients and their families and can progressively worsen over time. Cognitive deficits, learning disabilities, and school problems are some of the most common complications of NF1.
Recent advances have resulted in an improved understanding of the molecular origination and development of NF1. The gene mutated in patients with NF1 has been identified and its protein product studied intensively. This protein has a critical role in brain development and cell growth control. Agents have recently become available that target specific molecular abnormalities found in tumors and tissues from patients with NF1. One of the obstacles in the development of therapeutic advances for children and adults with NF1 has been the lack of a consistent framework to perform clinical trials. The development of this NF1 Consortium, where selected institutions were chosen under peer review of extensive criteria, fills a major void in the development and effective implementation of appropriate studies. The objective of the Consortium is to conduct multicenter clinical trials to develop and implement innovative therapeutic options for patients with various manifestations of NF1. Studies conducted by the Consortium will be open to patients with NF1, both pediatric and adults.
It is expected that the results of Consortium studies will provide a wider range of therapeutic options for patients with NF1 with the goal of reducing the morbidity associated with this disease and improving the quality of life for patients and their families. By monitoring not only the clinical outcomes, but the molecular effects of therapies, it may be possible to better understand the disease and its multiple manifestations.
Targeted novel biologic agents will be studied as treatments for plexiform neurofibromas, malignant peripheral nerve sheath tumors, and optic gliomas. A study of children with neurocognitive problems associated with neurofibromatosis is also planned.
Clinical applications of the research conducted by the Consortium include utilization of innovative, new therapies in the community for NF1 patients. The benefits of these treatments are expected to be a decline in morbidity and pain and improvement in quality of life. The risks of participation in studies vary due to the agent under study and the patient's underlying condition. Many of the agents under consideration for Consortium studies have been well tolerated and demonstrated efficacy in other patient populations.
Most Consortium studies are expected to require 2 years to enroll patients and follow-up periods ranging from 4 months to 18 months. It may take 3 years to obtain the initial results for dissemination to the public.