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15.10.2019 | Original Communication

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

verfasst von: Teresa Gidaro, Harmen Reyngoudt, Julien Le Louër, Anthony Behin, Ferial Toumi, Melanie Villeret, Ericky C. A. Araujo, Pierre-Yves Baudin, Benjamin Marty, Melanie Annoussamy, Jean-Yves Hogrel, Pierre G. Carlier, Laurent Servais

Erschienen in: Journal of Neurology | Ausgabe 1/2020

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Abstract

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.

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Titel: Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy
verfasst von: Teresa Gidaro
Harmen Reyngoudt
Julien Le Louër
Anthony Behin
Ferial Toumi
Melanie Villeret
Ericky C. A. Araujo
Pierre-Yves Baudin
Benjamin Marty
Melanie Annoussamy
Jean-Yves Hogrel
Pierre G. Carlier
Laurent Servais
Publikationsdatum: 15.10.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 1/2020
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-019-09569-6

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Abstract

Background and objective

Methods

Results

Conclusions

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