Abstract #0563

Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9

Susi S. Rauh^1,2,3,4, Pierre-Yves Baudin¹, Tanya Stojkovic⁵, Simone Birnbaum⁶, Valérie Decostre⁶, Rachida-Lydie Zanfongnon⁷, Yves Fromes¹, Melissa T. Hooijmans^3,8,9, Gustav J. Strijkers^3,4, Jean-Yves Hogrel⁶, Sophie Olivier¹⁰, Benjamin Marty¹, and Harmen Reyngoudt¹

¹Neuromuscular Investigation Center, NMR Laboratory, Institute of Myology, Paris, France, ²C.J. Gorter MRI Center, Leiden University Medical Center, Leiden, Netherlands, ³Amsterdam Movement Sciences, Amsterdam, Netherlands, ⁴Department of Biomedical Engineering and Physics, Amsterdam University Medical Center, Amsterdam, Netherlands, ⁵Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital (AP-HP), Paris, France, ⁶Neuromuscular Investigation Center, Neuromuscular Physiology and Evaluation Laboratory, Institute of Myology, Paris, France, ⁷Généthon, Evry, France, ⁸Vrije Universiteit Amsterdam, Amsterdam, Netherlands, ⁹Department of Radiology and Nuclear Medicine, Amsterdam University Medical Center, Amsterdam, Netherlands, ¹⁰Atamyo Therapeutics, Evry, France

Synopsis

Keywords: Muscle, Muscle, Rare Disease, Quantitative Imaging

Motivation: Quantitative MRI (qMRI) holds potential as biomarker to monitor disease progression in limb-girdle muscular dystrophy R9 (LGMD-R9).

Goal(s): We investigated qMRI to differentiate between healthy and diseased muscles and explored its ability to predict disease progression in LGMD-R9.

Approach: 18 LGMD-R9 patients and 13 controls underwent qMRI of the lower limbs. LGMD-R9 subjects were followed-up after 1 and 2-years. Fat fraction (FF), water-T2, water-T1, diffusion tensor imaging (DTI), and pH were assessed.

Results: FF, water-T2, water-T1, and pH differed significantly between LGMD-R9 and controls. Baseline-water-T2 and -water-T1 correlated with the increase in FF over 2 years, suggesting their potential to predict disease progression.

Impact: QMRI parameters in LGMD-R9 patients were significantly different from controls, with water-T2 and water-T1 correlating with the increase in FF. These findings may be valuable for identifying biomarkers in clinical trials or selecting eligible LGMD-R9 patients for therapeutic treatment studies.

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