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

Tan L, Zschüntzsch J, Meyer S, Stobbe A, Bruex H, Regensburger A, Claßen M, Alves F, Jüngert J, Rother U, Li Y, Danko V, Lang W, Türk M, Schmidt S, Vorgerd M, Schlaffke L, Wölfle J, Hahn A, Mensch A, Winterholler M, Trollmann R, Heiß R, Wagner A, Raming R, Knieling F (2024)

Publication Type: Journal article

Publication year: 2024

Journal

Nature Communications Nature Publishing Group: Nature Communications

Book Volume: 15

Journal Issue: 1

DOI: 10.1038/s41467-024-52143-6

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.

Authors with CRIS profile

Adrian Regensburger Department of Paediatrics and Adolescent Medicine Merle Claßen Lehrstuhl für Kinder- und Jugendmedizin Jörg Jüngert Medizinische Fakultät Ulrich Rother Department of Vascular Surgery Yi Li Department of Vascular Surgery Werner Lang Department of Vascular Surgery Matthias Türk Department of Neurology Joachim Wölfle Lehrstuhl für Kinder- und Jugendmedizin Regina Trollmann Professur für Kinder- u. Jugendmedizin Schwerpunkt Neuropädiatrie Rafael Heiß Institute of Radiology Alexandra Wagner Professur für Kinder- u. Jugendmedizin Schwerpunkt Neuropädiatrie Roman Raming Department of Paediatrics and Adolescent Medicine Ferdinand Knieling Department of Paediatrics and Adolescent Medicine

Involved external institutions

Universitätsklinikum Göttingen DE Germany (DE) Max-Planck-Institut für Multidisziplinäre Naturwissenschaften / Max Planck Institute for Multidisciplinary Sciences DE Germany (DE) Berufsgenossenschaftliches Universitätsklinikum Bergmannsheil DE Germany (DE) Justus-Liebig-Universität Gießen DE Germany (DE) Martin-Luther-Universität Halle-Wittenberg (MLU) DE Germany (DE) Krankenhaus Rummelsberg DE Germany (DE)

How to cite

APA:

Tan, L., Zschüntzsch, J., Meyer, S., Stobbe, A., Bruex, H., Regensburger, A.,... Knieling, F. (2024). Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-52143-6

MLA:

Tan, Lina, et al. "Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease." Nature Communications 15.1 (2024).

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