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Developing Novel Biomarkers of Plexiform Neurofibroma Tumor Burden

Award Number: R33NS122094
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 06/20/2025
PERIOD OF PERFORMANCE END DATE: 05/30/2027

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Developing Novel Biomarkers of Plexiform Neurofibroma Tumor Burden - PROJECT SUMMARY/ABSTRACT Neurofibromatosis type 1 (NF1) is a common inherited human disorder, with a frequency of approximately 1:2500 worldwide. A hallmark of NF1 is development of plexiform neurofibromas (PNFs) in 30 to 50% of NF1 patients. Currently, there are no biomarkers of tumor burden and whole body magnetic resonance imaging (MRI) is expensive and limited to few centers. We established an unbiased pipeline to identify candidate biomarker signals of tumor burden using plasma from neurofibroma-bearing DhhCre;Nf1fl/fl mice using untargeted metabolomics. Our preliminary data show that glucosylceramide (GC) is the most significantly deregulated compound in plasma from neurofibroma-bearing DhhCre;Nf1fl/fl mice. We developed a novel targeted mass spectrometry method to accurately quantify multiple elevated GC and lactosylceramide (LC) species. Further analysis of these candidate tumor burden biomarker signatures in plasma from NF1 individuals with PNFs and DhhCre;Nf1fl/fl mice stratified by tumor volume showed a preliminary strong correlation. In this proposal, we will combine the clinical and research infrastructure of the NF1 comprehensive program with the advance imaging and mass spectrometry capabilities of Cincinnati Children's Hospital Medical Center. Taking advantage of our large, well-characterized, Cincinnati Children’s NF1 population and the RASopathies biorepository, we propose to perform analytical validation studies of candidate GC/LC biomarker signature of tumor burden in plasma from NF1 patients and neurofibroma-bearing mice with defined numbers of PNF (tumor burden) by whole body MRI. The potential outcomes of our study are identification of candidate biomarker of tumor burden that contribute to patient risk stratification, and analytical validation of GC/LC biomarker signature (context of use). Collectively, this work represents a synergistic approach for discovery and validation of biomarkers of tumor burden in NF1.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $725,444 )
2026	2026	ANN & ROBERT H LURIE CHILDRENS HOSPITAL OF CHICAGO	225 E CHICAGO AVE	CHICAGO	IL	60611	COOK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	5/25/2026	NON-COMPETING CONTINUATION	$725,444
														Subtotal = $725,444

Issue Date FY: 2025 ( Subtotal = $734,542 )
2025	2025	ANN & ROBERT H LURIE CHILDRENS HOSPITAL OF CHICAGO	225 E CHICAGO AVE	CHICAGO	IL	60611	COOK	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	3	6/18/2025	EXTENSION WITH OR WITHOUT FUNDS	$734,542
														Subtotal = $734,542

Grand Total All Awards = $1,459,986

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Developing Novel Biomarkers of Plexiform Neurofibroma Tumor Burden

Award Number: R33NS122094

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 06/20/2025

PERIOD OF PERFORMANCE END DATE: 05/30/2027

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