NTAP Cutaneous Neurofibroma: Biology and Therapeutic Development for Cutaneous Neurofibromas

Sponsor Deadline: 

Sep 2, 2022

Letter of Intent Deadline: 

Aug 5, 2022


Johns Hopkins University School of Medicine - Neurofibromatosis Therapeutic Acceleration Program

UI Contact: 

ProposalCentral link https://proposalcentral.com/grantopportunities.asp?GMID=229#

Cutaneous neurofibromas (cNF) are multicellular tumors involving the skin that are the hallmark of the tumor predisposition syndrome neurofibromatosis type 1 (NF1). They affect >90% of adults with NF1 and are a major source of emotional and social distress as well as intermittent but chronic physical pain and itching. cNF typically appear in adolescence and commonly increase in number over time. Although cNF are not predisposed to malignant transformation and are rarely associated with functional limitations, they are highly damaging to people with NF1 via their disfigurement, pain and itching. In adults with NF1, perceived disease visibility is significantly associated with depression, psychosocial distress, quality of life impairment and negative body experience for attractiveness and self-confidence. There are no known ways to prevent cNF from developing and current treatments are limited to local or regional procedure based approaches.

Major advances in therapeutics for NF1 associated plexiform neurofibromas, new preclinical models for cNF, enhanced understanding about the relationship between NF1 and Ras, and the biology underlying cNF set the stage for acceleration of the next phase of discovery, leading to effective strategies to prevent and treat (stabilize or reduce) cNF in people of all ages and skin types. Experts with diverse expertise met and reviewed all available data pertinent to cNF and generated a list of priority areas to be the focus of cNF funding to accelerate the next era of discovery and therapeutics for cNF.