The mission of the NF1 Research Initiative (NFRI) is to advance pre-clinical research towards effective treatment of neurofibromatosis-related tumors. The initial focus of the NFRI will be on malignant peripheral nerve sheath tumors (MPNSTs), for which there is currently no effective medical treatment.
The NFRI will accomplish this mission through two primary objectives:
- Collaboration with international experts to collect MPNSTs and define their genomic architecture, combine genomic data with relevant clinical information, and make the data available as an open resource to identify drivers of tumor progression. This effort will take the form of a "Genomics of MPNST" (GeM) Consortium.
- Directing an international open grant program to fund pre-clinical research proposals taking novel approaches aimed at advancing effective medical treatment(s) for MPNSTs.
By 2021, NF1-related Malignant Peripheral Nerve Sheath Tumor genetic profiling has been incorporated into clinical care because of international collaborative research, resulting in more accurate diagnosis and selection of effective medical treatment for an individual patient's tumor.
Specific components of this vision:
- By 2021, the NF community will use a shared database of genomic and clinical information (including treatment outcomes) on NF1 patients with MPNST to optimize clinical management for individual patients.
- By 2021, data-mining of a shared clinical genomic MPNST database has facilitated pre-clinical research on a new combination of agents for treating MPNST, and that combination has been considered for a clinical trial.
- By 2021, genomic data about MPNSTs has led to a circulating tumor DNA assay that has been validated for clinical use to identify malignant transformation to MPNST, and to monitor for residual disease after surgery.