Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy

• Published in: Journal of neurology Vol. 267; no. 1; pp. 228 - 238
• Main Authors: Gidaro, Teresa, Reyngoudt, Harmen, Le Louër, Julien, Behin, Anthony, Toumi, Ferial, Villeret, Melanie, Araujo, Ericky C. A., Baudin, Pierre-Yves, Marty, Benjamin, Annoussamy, Melanie, Hogrel, Jean-Yves, Carlier, Pierre G., Servais, Laurent
• Format: Journal Article Web Resource
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2020; Springer Nature B.V; Dr. Dietrich Steinkopff Verlag
• Subjects: Adult; Clinical trials; Contractility; Disease Progression; Distal Myopathies - diagnosis; Distal Myopathies - diagnostic imaging; Distal Myopathies - physiopathology; Female; Follow-Up Studies; Forearm; GNEM; Human health sciences; Humans; Limbs; Longitudinal studies; Longitudinal study; Magnetic resonance imaging; Magnetic Resonance Imaging - methods; Male; Medicine; Medicine & Public Health; Middle Aged; Muscle contraction; Muscle, Skeletal - diagnostic imaging; Muscle, Skeletal - physiopathology; Myopathy; Neurologie; Neurology; Neuroradiology; Neurosciences; NMR; Nuclear magnetic resonance; Original Communication; Outcome measures; Pediatrics; Pédiatrie; Quantitative NMRI; Sciences de la santé humaine; Skeletal muscle; Outcome measures; GNEM; Quantitative NMRI; Longitudinal study
• ISSN: 0340-5354; 1432-1459; 1432-1459
• DOI: 10.1007/s00415-019-09569-6

Background and objective To identify the most responsive and sensitive clinical outcome measures in GNE myopathy. Methods ClinBio-GNE is a natural history study in GNE myopathy. Patients were assessed prospectively by clinical, functional and quantitative nuclear magnetic resonance imaging (qNMRI) evaluations. Strength and functional tests included Myogrip, Myopinch, MoviPlate and Brooke assessments for upper limb and the 6-min walk distance for lower limb. qNMRI was performed for determining the degree of fatty infiltration and trophicity in leg, thigh, forearm and hand skeletal muscles. Ten GNE myopathy patients were included. Three patients were non-ambulant. Age and gender-matched healthy subjects were used as controls. Results Fatty infiltration and contractile cross-sectional area changed inversely and significantly in lower distal limbs and in proximal lower and distal upper limbs over 1 year. qNMRI indices and functional assessment results were strongly correlated. Conclusions Even in a limited number of patients, qNMRI could detect a significant change over a 1-year period in GNE myopathy, which suggests that qNMRI could constitute a surrogate endpoint in this slowly progressive disease. Quantitative NMRI outcome measures can monitor intramuscular fat accumulation with high responsiveness. Longer follow-up should improve our understanding of GNE myopathy evolution and also lead to the identification of non-invasive outcome measures with the highest discriminant power for upcoming clinical trials.