Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease

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 and Ferdinand Knieling ()
Additional contact information
Lina Tan: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Jana Zschüntzsch: Neuromuscular Disease Research, Clinic for Neurology, University Medical Center Göttingen (UMG)
Stefanie Meyer: Neuromuscular Disease Research, Clinic for Neurology, University Medical Center Göttingen (UMG)
Alica Stobbe: Neuromuscular Disease Research, Clinic for Neurology, University Medical Center Göttingen (UMG)
Hannah Bruex: Neuromuscular Disease Research, Clinic for Neurology, University Medical Center Göttingen (UMG)
Adrian P. Regensburger: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Merle Claßen: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Frauke Alves: City Campus
Jörg Jüngert: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Ulrich Rother: Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Yi Li: Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Vera Danko: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Werner Lang: Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Matthias Türk: Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Sandy Schmidt: University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Matthias Vorgerd: BG-University Hospital Bergmannsheil, Ruhr-University Bochum
Lara Schlaffke: BG-University Hospital Bergmannsheil, Ruhr-University Bochum
Joachim Woelfle: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Andreas Hahn: Department of Child Neurology, Justus-Liebig-Universität Giessen
Alexander Mensch: Department of Neurology, Martin-Luther-Universität Halle-Wittenberg
Martin Winterholler: Sana Krankenhaus Rummelsberg
Regina Trollmann: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Rafael Heiß: University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Alexandra L. Wagner: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Roman Raming: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg
Ferdinand Knieling: Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg

Nature Communications, 2024, vol. 15, issue 1, 1-13

Abstract: 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.

Date: 2024
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DOI: 10.1038/s41467-024-52143-6

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