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

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.

journal_name

J Neurol

journal_title

Journal of neurology

authors

Gidaro T,Reyngoudt H,Le Louër J,Behin A,Toumi F,Villeret M,Araujo ECA,Baudin PY,Marty B,Annoussamy M,Hogrel JY,Carlier PG,Servais L

doi

10.1007/s00415-019-09569-6

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

228-238

issue

1

eissn

0340-5354

issn

1432-1459

pii

10.1007/s00415-019-09569-6

journal_volume

267

pub_type

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