Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease
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
- Merle Claßen
- Jörg Jüngert (ORCID: https://orcid.org/0000-0002-2048-1871)
- Matthias Vorgerd (ORCID: https://orcid.org/0000-0002-1782-4642)
- Andreas Hahn (ORCID: https://orcid.org/0000-0003-0235-5211)
- Werner Lang (ORCID: https://orcid.org/0000-0003-4114-7589)
- R. Heiß (ORCID: https://orcid.org/0000-0002-2897-5411)
- Regina Trollmann (ORCID: https://orcid.org/0000-0001-6031-8537)
- Alexander Mensch (ORCID: https://orcid.org/0000-0003-0089-4473)
- Martin Winterholler
- Matthias Türk (ORCID: https://orcid.org/0000-0001-9812-3794)
- Frauke Alves (ORCID: https://orcid.org/0000-0002-6258-5409)
- Adrian P. Regensburger (ORCID: https://orcid.org/0000-0001-8244-1261)
- Vera Danko
- Ferdinand Knieling (ORCID: https://orcid.org/0000-0002-3535-2626)
- Roman Raming
- Lina Tan
- Yi Li (ORCID: https://orcid.org/0000-0001-8385-4711)
- Ulrich Rother (ORCID: https://orcid.org/0000-0002-4016-5673)
- Alexandra L. Wagner (ORCID: https://orcid.org/0000-0001-6673-358X)
- Lara Schlaffke (ORCID: https://orcid.org/0000-0002-0716-3780)
- Joachim Woelfle (ORCID: https://orcid.org/0000-0002-9132-6174)
- Jana Zschüntzsch (ORCID: https://orcid.org/0000-0002-7062-5319)
- Stefanie Meyer
- Alica Stobbe
- Hannah Bruex
- Sandy Schmidt
Institutions
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Justus-Liebig-Universität Gießen (DE)
- Universitätsklinikum Erlangen (DE)
- cts CaritasKlinikum Saarbrücken (DE)
- Universitätsmedizin Göttingen (DE)
- Max Planck Institute of Experimental Medicine (DE)
- BG University Hospital Bergmannsheil Bochum (DE)
- Comprehensive Cancer Center Erlangen (DE)
- Martin Luther University Halle-Wittenberg (DE)
- University of Göttingen (DE)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Nature Communications
- Published
- 2024-09-08
- DOI
- https://doi.org/10.1038/s41467-024-52143-6
- Citations
- 10
- Primary Topic
- Photoacoustic and Ultrasonic Imaging
- Type
- article
- Field-Weighted Citation Impact
- 1.84
Funders
- Sanofi
- European Commission
- Horizon 2020 Framework Programme