Abstract Details

Title Natural history study of cutaneous neurofibromas in people with NF1: Research in Progress

Topic Neuro-oncology

Presentation(s) P1 - Poster Session 1 (9:00 AM-5:00 PM)

Poster/Presentation
Number 428

Objective

To assess the reliability of using whole-body (WB) 3D photography to detect cNFs and describe their natural history relative to change in number and size, patient reported outcomes and germline NF1 variant.

Background Cutaneous neurofibromas (cNFs) are the most common tumors in people with neurofibromatosis type 1 (NF1). They significantly impact quality of life due to interference with daily activities and disfigurement. Multiple challenges hinder clinical trials for cNFs including: 1) lack of natural history data, precluding identification of the patient population most likely to benefit from various therapies; 2) manual counting or measuring of cNFs is labor-intensive, of questionable accuracy and frequently not feasible; and 3) there are no clearly defined endpoints in clinical trials to assess treatment response.

Design/Methods 500 participants of all ages are being recruited at the Johns Hopkins Comprehensive Neurofibromatosis Center (100 patients per age cohort). WB digital images are collected via VECTRA WB360 3D imaging system (Canfield Scientific) annually for 5 years. NF1 variant assessment is being performed via next generation sequencing (Invitae Corporation). The first stage of the study is demonstrating feasibility of the WB camera to visualize cNF and compare to manual clinician counting to assess for time required and number of cNF in a cohort of 32 patients.

Results 32 patients completed the feasibility stage. Median age was 24 years [1-69]; 15 were female (47%), 17 males (53%). Participants with Fitzpatrick phototypes I-VI participated. Median number of cNFs was 3 [0-1417]. Analysis of cNF count through digital photographs is ongoing.

Conclusions There are increasing therapeutic possibilities for cNF, increasing urgency for identifying accurate and efficient mechanisms to assess cNFs. Initial data suggests that WB digital imaging is feasible, efficient, and provides durable source documentation. Ongoing analysis will report reliability and sensitivity to change over time.

Authors/Disclosures
Carlos G. Romo, MD (Johns Hopkins Hospital) PRESENTER	Dr. Romo has nothing to disclose.
	No disclosure on file
	No disclosure on file
Shannon Langmead, CRNP, CNRN (Johns Hopkins University)	Ms. Langmead has received personal compensation in the range of $500-$4,999 for serving as a Langmead with AstraZeneca.
	No disclosure on file
	No disclosure on file
Verena Staedtke, MD (Johns Hopkins University, Child Neurology)	Dr. Staedtke has received personal compensation for serving as an employee of Gilbert Family Foundation. The institution of Dr. Staedtke has received research support from NCI K08. The institution of Dr. Staedtke has received research support from NCI U01 Cancer Moonshot. The institution of Dr. Staedtke has received research support from Sontag Family Foundation.
Jaishri Blakeley, MD, FAAN (Johns Hopkins University School of Medicine)	Dr. Blakeley has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Springworks Therapeutics.

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