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Machine Learning Algorithms for Early Detection of Bone Metastases in an Experimental Rat Model
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Multi-scale machine learning model predicts muscle and functional disease progression.

Silvia S Blemker1,2, Lara Riem3, Olivia DuCharme3

  • 1Springbok Analytics, 110 Old Preston Ave, Charlottesville, VA, 22902, USA. silvia.blemker@springbokanalytics.com.

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|July 16, 2025
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Summary
This summary is machine-generated.

Machine learning models predict disease progression in facioscapulohumeral muscular dystrophy (FSHD) using MRI and clinical data. This creates a digital twin for personalized patient assessment and improved clinical trials.

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Area of Science:

  • Biomedical Engineering
  • Neurology
  • Data Science

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is a heterogeneous genetic neuromuscular disorder.
  • Current clinical metrics for FSHD progression lack sensitivity for personalized assessment, hindering clinical trials.

Purpose of the Study:

  • To develop a multi-scale machine learning framework to predict regional, muscle, joint, and functional progression in FSHD.
  • To create a 'digital twin' of individual FSHD patients for clinical trial applications.

Main Methods:

  • Integrated whole-body MRI-derived metrics (fat fraction, lean muscle volume, fat heterogeneity) with clinical and functional data from over 100 patients.
  • Developed a three-stage random forest model to predict annualized changes in muscle composition and Timed Up-and-Go (TUG) performance.

Main Results:

  • Models demonstrated strong predictive performance on holdout datasets.
  • Predicted fat fraction change with RMSE of 2.16% and lean volume change with RMSE of 8.1 ml.
  • Predicted TUG change with RMSE of 0.6 s, with fat heterogeneity identified as a key predictor of muscle progression.

Conclusions:

  • Machine learning models integrating muscle and performance data can predict FSHD progression, addressing disease heterogeneity.
  • This approach has broad applicability for other neuromuscular diseases with similar variability.