Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease
Year: 2024
Type: article
Abstract: Pompe disease (PD) is a rare autosomal recessive glycogen storage disorder that causes proximal muscle weakness and loss of respiratory function. While enzyme replacement therapy (ERT) is the only effective treatment, biomarkers for disease monitoring are scarce. Following ex vivo biomarker validation in phantom studies, we apply multispectral optoacoustic tomography (MSOT), a laser- and ultrasound-based non-invasive imaging approach, in a clinical trial (NCT05083806) to image the biceps muscles of 10 late-onset PD (LOPD) patients and 10 matched healthy controls. MSOT is compared with muscle magnetic resonance imaging (MRI), ultrasound, spirometry, muscle testing and quality of life scores. Next, results are validated in an independent LOPD patient cohort from a second clinical site. Our study demonstrates that MSOT enables imaging of subcellular disease pathology with increases in glycogen/water, collagen and lipid signals, providing higher sensitivity in detecting muscle degeneration than current methods. This translational approach suggests implementation in the complex care of these rare disease patients.
Source: Nature Communications
Authors: Lina Tan, Jana Zschüntzsch, Stefanie Meyer, Alica Stobbe, Hannah Bruex, Adrian P. Regensburger, Merle Claßen, Frauke Alves, Jörg Jüngert, Ulrich Rother, Yi Li, Vera Danko, Werner Lang, Matthias Türk, Sandy Schmidt, Matthias Vorgerd, Lara Schlaffke, Joachim Woelfle, Andreas Hahn, Alexander Mensch, Martin Winterholler, Regina Trollmann, Rafael Heiß, Alexandra L. Wagner, Roman Raming, Ferdinand Knieling
Institutions: Friedrich-Alexander-Universität Erlangen-Nürnberg, Universitätsklinikum Erlangen, Universitätsmedizin Göttingen, University of Göttingen, Max Planck Institute for Multidisciplinary Sciences, BG University Hospital Bergmannsheil Bochum, Ruhr University Bochum, Justus-Liebig-Universität Gießen, Martin Luther University Halle-Wittenberg, Sana Kliniken AG, Stiftung Charité, Charité - Universitätsmedizin Berlin
Language: English
Subfield: Biomedical Engineering
Field: Engineering
Domain: Physical Sciences
Open Access status: gold
Estimated APC paid: $6,790
OpenAlex ID: W4402344078