Objective Neurofibromatosis (NF) encompasses a group of rare disorders affecting 100,000 Americans. The clinical course of NF is unpredictable: it can lead to deafness, blindness, amputation or disfigurement. The genes for the two major forms, NF1 and NF2, were identified in the early 1990’s, and the molecular signaling pathways are well understood. The primary funders of US NF research are the Congressionally Directed Medical Research Program for Neurofibromatosis Research ($10M-$25M/year) and NIH ($11-$15M/year). Major tools developed in the last 10 years include transgenic mouse models representing individual NF manifestations, and a Phase II Clinical Trials Consortium. In 2006, the Children’s Tumor Foundation (CTF) examined the NF research landscape looking for ‘funding gaps’ that if filled could rapidly advance NF discoveries to the clinic. The goal was to implement recommendations within 5 years.
Methods We first mapped ‘bench to bedside’ the dollar amounts of NF grants issued by NIH and CDMRP 1996-2005, then convened an expert strategic planning workshop. We concluded that the NF community had a reasonable understanding of NF candidate drug targets; good preclinical drug screening tools; and a Phase II clinical trials consortium; but that areas in need of funding were: i) Coordinated preclinical drug screening; ii) pilot clinical trials for initial advancement of promising compounds; iii) NF clinic network; iv) patient registry; and v) tissue bank to utilize for identifying new biomarkers.
Results CTF has now launched initiatives in all five 2006 strategic recommendation areas. These include: a NF Preclinical Consortium and Drug Discovery Initiative to test candidate drugs in multiple NF tumor models; a Clinical Trial Awards program for proof of concept studies; an NF Clinic Network of 44 US clinics; and we are in the process of developing both a Patient Registry and Tissue Biobank.
Conclusions In early 2011 CTF reviewed these initiatives for the next five years’ strategic planning 2012-2016. Lessons learned have included vagaries of managing multisite legal agreements – particularly when collaborating with a commercial entity; setting realistic goals with measurable milestones; managing donor and constituent expectations. On the positive side, we have a significant increase in industry’s interest in NF as a marketable condition. Preclinical testing, clinical trials and clinical care are becoming progressively linked and the NF community can now offer industry the opportunity to engage in NF research at any point from pilot preclinical studies to large scale clinical trials.