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Related Experiment Video

Updated: Dec 29, 2025

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
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MR biomarkers predict clinical function in Duchenne muscular dystrophy.

Alison M Barnard1, Rebecca J Willcocks1, William T Triplett1

  • 1From the Departments of Physical Therapy (A.M.B., R.J.W., W.T.T., S.C.F., D.J.L., C.R.S., H.A., K.V.), Statistics (M.J.D., S.C.), Pharmacology and Therapeutics (H.L.S.), and Physiology and Functional Genomics (G.A.W.), University of Florida, Gainesville; Departments of Pediatrics and Neurology (E.L.F., G.T., D.-J.W.) and Advanced Imaging Research Center (W.D.R.), Oregon Health & Science University, Portland; and Children's Hospital of Philadelphia (A.T.H.), PA.

Neurology
|February 7, 2020
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Summary

Lower extremity magnetic resonance (MR) biomarkers show promise for Duchenne muscular dystrophy (DMD) clinical trials. These MR biomarkers effectively predict functional decline and ambulation loss in DMD patients over time.

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Area of Science:

  • Biomedical imaging
  • Neuromuscular disorders
  • Clinical trial methodology

Background:

  • Duchenne muscular dystrophy (DMD) is a progressive genetic disorder affecting muscle strength.
  • Identifying reliable biomarkers for clinical trials is crucial for therapeutic development in DMD.
  • Longitudinal studies are needed to validate potential endpoints in DMD research.

Purpose of the Study:

  • To assess lower extremity magnetic resonance (MR) biomarkers as potential clinical trial endpoints for DMD.
  • To characterize the 48-month progression of MR biomarkers in DMD patients.
  • To evaluate the relationship between MR biomarkers and ambulatory function changes.

Main Methods:

  • 160 participants with DMD were enrolled in a 48-month longitudinal natural history study.
  • Lower extremity muscles underwent MR imaging to assess fat fraction (FF) and T2 biomarkers.
  • Four tests of ambulatory function were administered at baseline and follow-up visits.

Main Results:

  • Vastus lateralis FF, vastus lateralis T2, and biceps femoris long head T2 demonstrated the fastest progression.
  • MR biomarkers predicted functional performance 12 and 24 months in advance.
  • Changes in MR biomarkers correlated with changes in functional status, predicting ambulation loss.

Conclusions:

  • Lower extremity MR biomarkers are strongly associated with clinical function in DMD.
  • MR biomarkers, especially from proximal muscles, can predict future ambulatory function and clinical milestones.
  • These findings support the use of MR biomarkers as valid endpoints in DMD therapeutic trials.