# Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy

> **NIH NIH R01** · UNIVERSITY OF FLORIDA · 2024 · $1,226,317

## Abstract

Project Summary
The proposed research is for the second competitive renewal of a long-term project to develop imaging
biomarkers for Duchenne muscular dystrophy (DMD). Noninvasive outcome measures that provide unbiased
patient assessments and reliably evaluate drug responses in clinical trials are essential to develop curative
therapies for muscular dystrophies. In the previous funding cycles, we developed and validated lower extremity
quantitative magnetic resonance imaging (qMR) biomarkers for ambulatory patients with DMD and modeled
the disease trajectory in upper and lower extremity muscles. These qMR biomarkers are now used as primary
and secondary endpoints in a number of international clinical trials.
In this application one major objective is to extend our DMD work by focusing on older DMD patients with
advanced disease progression. More than 50% of the DMD population is nonambulant, yet there are few
outcome measures that permit their inclusion in clinical trials. We propose to 1) develop composite qMR
biomarkers using quantitative whole-body imaging and 2) validate novel qMR biomarkers that assess
respiratory muscle quality and can predict a decline in respiratory function, a major cause of death in muscular
dystrophies. We hypothesize that composite qMR biomarkers–statistical constructs that optimally combine fat
fraction measures in multiple muscles–are responsive across a wide range of motor abilities in DMD. We will
leverage the large (older) DMD cohort currently enrolled in the ImagingDMD natural history study to test these
two new qMR biomarkers for advanced disease stages.
We also propose to extend our biomarker development work to patients with Becker muscular dystrophy
(BMD), the milder allelic form of the disease. Breakthroughs in gene delivery and exon skipping technology
have resulted in production of truncated dystrophin in variable amounts, effectively converting the DMD
phenotype into BMD. These therapeutic developments are expected to change the landscape for the next
generation of DMD patients. Thus, to assist future trials targeting dystrophin restoration, we will examine the
critical relationship between dystrophin expression, mutation site and qMR biomarkers of muscle
quality in BMD patients, setting the stage for informed in vivo monitoring of dystrophin rescue across muscles.
This project addresses critical barriers in therapeutic development and provides the potential for a paradigm
shift in clinical trial design in DBMD. In addition, this project will help inform future molecular based therapies
and will address a missing piece in translational gene restoration in DMD. All natural history data are shared
with the community.

## Key facts

- **NIH application ID:** 10907663
- **Project number:** 5R01AR056973-15
- **Recipient organization:** UNIVERSITY OF FLORIDA
- **Principal Investigator:** KRISTA H VANDENBORNE
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $1,226,317
- **Award type:** 5
- **Project period:** 2010-05-05 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10907663

## Citation

> US National Institutes of Health, RePORTER application 10907663, Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy (5R01AR056973-15). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10907663. Licensed CC0.

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