Muscle MRI as an Imaging Biomarker of Muscle Damage in Patients With Spinal and Bulbar Muscular Atrophy.

Christopher Grunseich¹, Masahisa Katsuno², Pietro Fratta³, Shinichiro Yamada², Panos Hatsis⁴, Carleen Gentry⁴, Carlo Rinaldi⁵, Dipa Jayaseelan³, Luca Zampedri³, Abdullah AlQahtani¹, Ahmed M Gharib⁶, Angela Kokkinis¹, Takahiro Kawase², Yoshiyuki Kishimoto², Toshiaki Taoka⁷, Markus Karlsson⁸, Per Widholm⁸, Vissia Viglietta⁴

¹Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

²Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

³Department of Neuromuscular Diseases, University College London, United Kingdom.

⁴Nido Biosciences, Inc., Boston, MA.

⁵Institute of Developmental and Regenerative Medicine (IDRM), University of Oxford, United Kingdom.

⁶Biomedical and Metabolic Imaging Branch NIDDK, National Institutes of Health, Bethesda, MD.

⁷Department of Innovative Biomedical Visualization (iBMV), Nagoya University Graduate of Medicine, Japan; and.

⁸AMRA Medical AB, Linköping, Sweden.

PubMed DOI

Abstract

BACKGROUND AND OBJECTIVES: Spinal and bulbar muscular atrophy (SBMA) is a rare neuromuscular disorder without effective treatments available. There is an unmet need to identify biomarkers reflecting underlying disease processes and sufficiently responsive to detect slow changes to enable future clinical trials. Muscle MRI is a responsive measure of muscle volume and fat content, a pathologic hallm…

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