Mapping lung function in late-onset Pompe disease using label-free functional MRI

Tan L, Wagner A, Heiß R, Bayerl N, Zschüntzsch J, Regensburger A, Alves F, Türk M, Schmidt S, Grimm R, Vorgerd M, Schlaffke L, Vogt-Wolz H, Claßen M, Stöcklein B, Bühler A, Wölfle J, Uder M, Hahn A, Mensch A, Winterholler M, Trollmann R, Raming R, Knieling F (2026)

Publication Type: Journal article

Publication year: 2026

Journal

iScience Elsevier

Book Volume: 29

Article Number: 115136

Journal Issue: 3

DOI: 10.1016/j.isci.2026.115136

Abstract

Pompe disease is a life-limiting metabolic myopathy characterized by proximal muscle weakness. In late-onset Pompe disease (LOPD), respiratory failure due to respiratory muscle weakness is the leading cause of death. Monitoring relies on spirometry, which is often not feasible in pediatric or severely affected patients, highlighting the need for effort-independent assessments. Phase-resolved functional lung (PREFUL) MRI enables non-invasive, label-free evaluation of lung function during free breathing without active cooperation. In this prospective pilot study, ten LOPD patients and ten age- and sex-matched healthy controls underwent 0.55 T PREFUL MRI. The method proved feasible and detected ventilation-related functional impairments in LOPD patients. Moreover, differences were observed depending on non-invasive ventilation (NIV) status. These findings align with the pathophysiology of respiratory muscle involvement in LOPD. PREFUL MRI may serve as a non-invasive imaging biomarker for respiratory dysfunction and overall disease burden in neuromuscular diseases.

Authors with CRIS profile

Lina Tan Department of Medicine 3 – Rheumatology and Immunology Alexandra Wagner Professur für Kinder- u. Jugendmedizin Schwerpunkt Neuropädiatrie Rafael Heiß Institute of Radiology Nadine Bayerl Institute of Radiology Adrian Regensburger Department of Paediatrics and Adolescent Medicine Matthias Türk Department of Neurology Hannah Vogt-Wolz Department of Paediatrics and Adolescent Medicine Merle Claßen Lehrstuhl für Kinder- und Jugendmedizin Benjamin Stöcklein Department of Paediatrics and Adolescent Medicine Adrian Bühler Department of Paediatrics and Adolescent Medicine Joachim Wölfle Lehrstuhl für Kinder- und Jugendmedizin Michael Uder Lehrstuhl für Diagnostische Radiologie Regina Trollmann Professur für Kinder- u. Jugendmedizin Schwerpunkt Neuropädiatrie Roman Raming Department of Paediatrics and Adolescent Medicine Ferdinand Knieling Medizinische Fakultät

Involved external institutions

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) Universitätsklinikum Halle (UKH) / University Medicine Halle DE Germany (DE) Krankenhaus Rummelsberg DE Germany (DE) Universitätsklinikum Göttingen DE Germany (DE)

How to cite

APA:

Tan, L., Wagner, A., Heiß, R., Bayerl, N., Zschüntzsch, J., Regensburger, A.,... Knieling, F. (2026). Mapping lung function in late-onset Pompe disease using label-free functional MRI. iScience, 29(3). https://doi.org/10.1016/j.isci.2026.115136

MLA:

Tan, Lina, et al. "Mapping lung function in late-onset Pompe disease using label-free functional MRI." iScience 29.3 (2026).

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