Relationship between markers of disease activity and progression in skeletal muscle of GNE myopathy patients using quantitative nuclear magnetic resonance imaging and 31 P nuclear magnetic resonance spectroscopy.

Autor: Reyngoudt H; NMR Laboratory, Neuromuscular Investigation Center, Institute of Myology, Paris, France.; NMR Laboratory, CEA, DRF, IBFJ, MIRCen, Paris, France., Marty B; NMR Laboratory, Neuromuscular Investigation Center, Institute of Myology, Paris, France.; NMR Laboratory, CEA, DRF, IBFJ, MIRCen, Paris, France., Caldas de Almeida Araújo E; NMR Laboratory, Neuromuscular Investigation Center, Institute of Myology, Paris, France.; NMR Laboratory, CEA, DRF, IBFJ, MIRCen, Paris, France., Baudin PY; Consultants for Research in Imaging and Spectroscopy (C.R.I.S.), Tournai, Belgium., Le Louër J; NMR Laboratory, Neuromuscular Investigation Center, Institute of Myology, Paris, France.; NMR Laboratory, CEA, DRF, IBFJ, MIRCen, Paris, France., Boisserie JM; NMR Laboratory, Neuromuscular Investigation Center, Institute of Myology, Paris, France.; NMR Laboratory, CEA, DRF, IBFJ, MIRCen, Paris, France., Béhin A; Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital (AP-HP), Paris, France., Servais L; Institute of Myology, Pitié-Salpêtrière Hospital (AP-HP), Paris, France.; I-Motion-Pediatric Clinical Trials Department, Trousseau Hospital (AP-HP), Paris, France.; Centre de référence des maladies Neuromusculaires, CHU, University of Liège, Liège, Belgium.; MDUK Oxford Neuromuscular Center, Department of Pediatrics, University of Oxford, Oxford, UK., Gidaro T; Institute of Myology, Pitié-Salpêtrière Hospital (AP-HP), Paris, France.; I-Motion-Pediatric Clinical Trials Department, Trousseau Hospital (AP-HP), Paris, France., Carlier PG; NMR Laboratory, Neuromuscular Investigation Center, Institute of Myology, Paris, France.; NMR Laboratory, CEA, DRF, IBFJ, MIRCen, Paris, France.
Jazyk: angličtina
Zdroj: Quantitative imaging in medicine and surgery [Quant Imaging Med Surg] 2020 Jul; Vol. 10 (7), pp. 1450-1464.
DOI: 10.21037/qims-20-39
Abstrakt: Background: Quantitative nuclear magnetic resonance imaging (NMRI) is an objective and precise outcome measure for evaluating disease progression in neuromuscular disorders. We aimed to investigate predictive 'disease activity' NMR indices, including water T 2 and 31 P NMR spectroscopy (NMRS), and its relation to NMR markers of 'disease progression', such as the changes in fat fraction (ΔFat%) and contractile cross-sectional area (ΔcCSA), in GNE myopathy (GNEM) patients.
Methods: NMR was performed on a 3T clinical scanner, at baseline and at a 1-year interval, in 10 GNEM patients and 29 age-matched controls. Dixon-based fat-water imaging and water T 2 mapping were acquired in legs and thighs, and in the dominant forearm. 31 P NMRS was performed at the level of quadriceps and hamstring. Water T 2 and 31 P NMRS indices were determined for all muscle groups and visits. Correlations were performed with 'disease progression' indices ΔFat%, ΔcCSA and the muscle fat transformation rate (R muscle_transf ).
Results: In quadriceps, known to be relatively preserved in GNEM, water T 2 at baseline was significantly higher compared to controls, and correlated strongly with the one-year evolution of Fat% and cCSA and R muscle_transf . Various 31 P NMRS indices showed significant differences in quadriceps and hamstring compared to controls and correlations existed between these indices and ΔFat%, ΔcCSA and R muscle_transf .
Conclusions: This study demonstrates that disease activity indices such as water T 2 and 31 P NMRS may predict disease progression in skeletal muscles of GNEM patients, and suggests that these measures may be considered to be valuable surrogate endpoints in the assessment of GNEM disease progression.
Competing Interests: Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/qims-20-39). AB reports personal fees from Ultragenyx pharmaceutical, during the conduct of the study; LS reports grants and personal fees from Avexis, grants and personal fees from Biogen, grants and personal fees from Roche, personal fees from Cytokinetics, personal fees from Sarepta, personal fees from Biophytis, personal fees from Pfizer, personal fees from Catabasis, personal fees from Lupin, grants and personal fees from Dynacure, personal fees from Audentes, outside the submitted work; PGC reports personal fees from Santhera, personal fees from Sanofi, personal fees from Sarepta, outside the submitted work. The authors have no other conflicts of interest to declare.
(2020 Quantitative Imaging in Medicine and Surgery. All rights reserved.)
Databáze: MEDLINE
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