Harlaar, Laurike
Ciet, Pierluigi
van Tulder, Gijs
van Kooten, Harmke A.
van der Beek, Nadine A. M. E.
Brusse, Esther
de Bruijne, Marleen
Tiddens, Harm A. W. M.
van der Ploeg, Ans T.
van Doorn, Pieter A. http://orcid.org/0000-0003-2584-3357
Funding for this research was provided by:
Prinses Beatrix Spierfonds (W.OR15-10)
ZonMw (09150161910230)
Article History
Received: 10 February 2022
Revised: 12 May 2022
Accepted: 31 May 2022
First Online: 13 July 2022
Declarations
:
: The scientific guarantor of this publication is Prof. Pieter A. van Doorn, MD PhD.
: The authors of this manuscript declare relationships with the following companies:• PC received writing grants outside the submitted work from Editamed Srl.• NAMEB received funding for research and as advisor or speaker from Sanofi-Genzyme, under agreements with Erasmus MC University Medical Center.• HAWMT received unconditional research grants outside the submitted work from Roche, Novartis, CFF, Vertex, Chiesi, Vectura, and Gilead and participated in the last 5 years in expert panels for Vertex and Gilead. All financial aspects for the grants are handled by Sophia Research BV. HAWMT is director of the Erasmus MC Lung Analysis laboratory and acts as consultant for Thirona.• ATP received funding for research and/or clinical trials and as advisor or speaker from Amicus, Sanofi-Genzyme, Ultragenix, Spark Therapeutics, Audentes, Biomarin, Shire, Ciesi, and Sarepta under agreements with Erasmus MC University Medical Center and the relevant industry.The other authors of this manuscript declare no relationships with any companies, whose products or services may be related to the subject matter of the article.
: Prof. Dimitris Rizopoulos (Erasmus MC, University Medical Center Rotterdam, Department of Biostatistics) kindly provided statistical advice for this manuscript.
: Written informed consent was obtained from all subjects (patients) in this study.
: Institutional Review Board approval was obtained.
: In the current prospective study, 30 Pompe patients and 10 healthy controls were included. All these participants initially participated in a cross-sectional study, in which we reported a decreased motion and an abnormal curvature of the diaphragm during inspiration in Pompe patients (Harlaar L, Ciet P, van Tulder G, et al Chest MRI to diagnose early diaphragmatic weakness in Pompe disease. <i>Orphanet Journal of Rare Diseases</i>. 2021;16(1):21).In this follow-up study, we repeated the MRI study after 1 year, to evaluate possible changes in the motion and curvature of the diaphragm over time and during treatment with enzyme replacement therapy. We used 3D SPGR breath-hold acquisitions at end-expiration and end-inspiration, instead of dynamic sagittal 2D images that were used in the cross-sectional study. Therefore, we were able to compare MRI outcomes on a matching sagittal level at the initial MRI and the follow-up MRI. In addition, we developed automatic lung segmentations, while in the cross-sectional study we used manual lung segmentations.
: • prospective• case-control study• performed at one institution