2022 cNF Symposium & Research Initiative
Cutaneous neurofibromas (cNF) are an urgent unmet need for people living with the complex syndrome of NF1. Patients with NF1 often identify cNF as their greatest burden related to the condition. As part of NTAP’s commitment to helping people with NF1, we focus on inventing, identifying and developing effective therapies, and ultimately cures, for NF1 associated cNFs.
NTAP launched the first cNF scientific initiative via the 2016 Cutaneous Neurofibromas Summit in which 17 thought leaders reviewed the existing data for cNF and brainstormed to identify the most urgent needs for cNF research and clinical therapeutic development. The ideas and priority areas identified during the 2016 cNF summit led to five manuscripts and ten new scientific projects that have significantly advanced the field for NF1 cNF.
Building on this remarkable progress, NTAP hosted the 2022 cNF Symposium with 25 participants with diverse experiences and expertise pertinent to cNF. The outcome of the 2022 cNF Symposium is the identification of five areas of priority for cNF research including:
- Investigate the processes underlying the stages of cNF initiation, progression, maintenance and senescence in general via the following specific topic areas:
- Integrate multi-omic approaches such as single cell (RNA, DNA, etc.); epigenetics (e.g. ATAC seq); phosphoproteomics; metabolomics; temporal-spatial assessment strategies and cell-cell signaling analyses in human and preclinical cNF samples.
- Validate existing preclinical models and explore novel models (including co-cultures, assembloids, organoids) that predict human cNF behavior, accounting for age, sex, ethnicity and race.
- Including clinicopathologic studies across humans and preclinical systems (in vitro and in vivo models).
- Assess tumor microenvironment including neuronal components that contribute to cNF pathogenesis at all stages of cNF development (initiation, progression, maintenance and senescence).
- Investigate the NF1 gene (or other genes that effect NF1 function), neurofibromin structure and function, and cNF biology, including non-RAS pathway functions as specifically related to cNF initiation, progression, maintenance or senescence.
- Investigate the contributions of paracrine or autocrine factors, cytokines, chemokines, collagens, hormones and other proteins to cNF initiation, progression, maintenance or senescence.
- Identify and validate therapeutic candidates across the various stages and expressions of cNF in preclinical or clinical systems, including strategies focused on prevention of cNF and identifying candidate therapy-matched biomarkers.
- Identify or validate non-invasive approaches in humans and preclinical systems for detection and assessment of change (growth or response) of cNF.
- Define or validate key variables (i.e. patient or tumor specific characteristics) and endpoints for cNF clinical trials, including but not limited to:
- Develop reliable and sensitive metrics for assessment of cNF appearance
- Identify and validate biomarkers of treatment response or toxicity, including but not limited to circulating and tumor-specific markers and patient-specific prognostic markers of cNF course.
- Develop the infrastructure for patient-driven engagement programs to enable registries and rapid enrollment into clinical trials for cNF.
With these topic areas in mind, NTAP is launching a new initiative to advancing meaningful therapeutic discovery for NF1 associated cNF: the Biology and Therapeutic Development for Cutaneous Neurofibromas Initiative. A core element of this new cNF initiative is the Request of Applications for research projects focused on cNF.
We invite investigators and inventors from all scientific and clinical backgrounds, around the world, to respond to this request for applications HERE. The letters of intent for this opportunity are due August 5, 2022. Please review the full RFA for the 2022 Biology and Therapeutic Development for Cutaneous Neurofibroma announcement for details about the application and funding.
2016 cNF Symposium & Research Initiative
In 2016 NTAP assembled a team of experts from various disciplines and backgrounds to deeply investigate questions pertinent to cNF. The teams met monthly to review published and unpublished materials, and created summaries about the material known and unknown that may influence therapeutic development for cNF. Teams prioritized questions and organized supporting data, which was presented to the entire body of experts by each team at a research summit. From these efforts, the first cNF RFA was announced in 2017 and five manuscripts setting the international cNF research agenda were published. Ten projects were funded in 2018 generating some of the most critical data needed for cNF therapeutic advancement. Details about the 2016 cNF Summit outcomes can be found below: