# Biomarker Signatures for Duchenne Muscular Dystrophy

> **NIH NIH R61** · STATE UNIVERSITY OF NY,BINGHAMTON · 2022 · $515,364

## Abstract

Duchenne muscular dystrophy (DMD) is a debilitating muscle disease that remains without an effective
treatment despite the accumulated knowledge about the causative gene and muscle pathogenesis. Several
clinical trials have failed partly because of a lack of reliable and sensitive outcome measures to assess disease
progression and changes in disease course in response to an intervention. Current outcome measures such as
timed physical tests and forced vital capacity (FVC) are laborious and often less objective than ideal, and
moreover not sufficiently sensitive to detect meaningful short-term changes. We hypothesize that blood
accessible biomarkers provide useful tools as surrogate outcome measures to monitor disease course and
early changes in disease direction in DMD. Highly specific, precise, and reproducible analytical assays are
needed to identify such biomarkers. We have extensively published on biomarker discoveries in DMD using
SomaScan aptamer-based assay and mass spectrometry. The next step is to further develop and test
biomarkers for their clinical utility. The goal of this R61/R33 proposal is to use a rigorous workflow to evaluate
monitoring biomarker signatures that could be translated from bench to clinic and bench to clinical trials to help
with drug development programs. We have generated strong preliminary data that support our hypothesis and
feasibility. For the R61 phase, we propose two aims. Specific Aim 1 is to develop reliable, specific, and
accurate methods for discovery and measurement of serum protein biomarkers in DMD. Specific Aim 2 is to
define optimal monitoring biomarker signatures with robust statistical methods using longitudinal serum
samples with clinical data collected from well-defined and well annotated cohorts. Specific Aim 3 is to carry out
an evaluation of the developed monitoring biomarker signatures in external independent samples
(retrospective or prospective) using longitudinal sera samples and clinical data collected through independent
cohorts. If successful, this proposal will provide proof of concept of monitoring biomarker signatures for DMD to
help with go/no-go decision making in future short term clinical trials or in day to day clinical usage by a
physician to judge disease burden and severity, i.e., sensitive to short-term changes in function and predictive
of longer-term disease milestones.

## Key facts

- **NIH application ID:** 10358248
- **Project number:** 1R61NS119639-01A1
- **Recipient organization:** STATE UNIVERSITY OF NY,BINGHAMTON
- **Principal Investigator:** Utkarsh J Dang
- **Activity code:** R61 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $515,364
- **Award type:** 1
- **Project period:** 2022-04-01 → 2025-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10358248

## Citation

> US National Institutes of Health, RePORTER application 10358248, Biomarker Signatures for Duchenne Muscular Dystrophy (1R61NS119639-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10358248. Licensed CC0.

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