# Clinically Relevant Biomarkers for Niemann-Pick Type C

> **NIH FDA U01** · UNIVERSITY OF ILLINOIS AT CHICAGO · 2024 · $386,205

## Abstract

Project Summary
Niemann-Pick Type C (NPC) is an autosomal recessive, lysosomal storage disorder with progressive
neurodegeneration and no FDA-approved therapy. Over the past decade, our research team has dedicated
efforts to establishing a robust Natural History Study along with efforts to identify biomarkers to enhance our
understanding of the disease. In this project, we will leverage our complementary expertise to define a catalog
of biomarkers to facilitate future clinical trials. The biomarkers that we will characterize will ultimately provide
information on disease progression, prognosis, are associated with commonly affected pathways in NPC and
will predict therapeutic response. Towards this goal, we will 1) prioritize and validate biomarkers that reflect
neuropathological alterations, 2) identify and characterize proximal biomarkers of NPC1 then 3) investigate
multiple biomarkers, representing different aspects of NPC1 neuropathology, to provide prognostic information
that can be used in parental counseling and to stratify this heterogeneous disorder for therapeutic trials. Our
research team’s extensive discovery efforts have revealed twelve candidate markers. Within the scope of this
project is our short-term goal to evaluate these markers in a larger cohort of biospecimens using custom
developed and easily transferrable methods. Our long-term goal is to utilize these biomarkers as indicators of
response in future clinical trials.

## Key facts

- **NIH application ID:** 10931545
- **Project number:** 5U01FD008126-02
- **Recipient organization:** UNIVERSITY OF ILLINOIS AT CHICAGO
- **Principal Investigator:** Stephanie M Cologna
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** FDA
- **Fiscal year:** 2024
- **Award amount:** $386,205
- **Award type:** 5
- **Project period:** 2023-09-15 → 2027-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10931545

## Citation

> US National Institutes of Health, RePORTER application 10931545, Clinically Relevant Biomarkers for Niemann-Pick Type C (5U01FD008126-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10931545. Licensed CC0.

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