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Lookup NU author(s): Professor Hanns Lochmuller, Professor Rita HorvathORCiD, Dr Oksana Pogoryelova
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).
Background: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness. Objective: Investigate the clinical presentation and progression of GNE myopathy. Methods: The GNE Myopathy Disease Monitoring Program was an international, prospective, observational study in subjects with GNE myopathy. Muscle strength was assessed with hand-held dynamometry (HHD), with upper extremity (UE) and lower extremity (LE) composite scores reflecting upper and lower extremity muscle groups, respectively. The GNE myopathy-Functional Activity Scale (GNEM-FAS) was used to further assess impairment in mobility, upper extremity function, and self-care. Results: Eighty-seven of 101 enrolled subjects completed the trial until study closure by the sponsor; 60 completed 36 months. Mean (SD) HHD UE composite score decreased from 34.3 kg (32.0) at baseline to 29.4 kg (32.6) kg at month 36 (LS mean change [95%CI]: -3.8 kg [-5.9, -1.7]; P = 0.0005). Mean (SD) HHD LE composite score decreased from 32.0 kg (34.1) at baseline to 25.5 kg (31.2) at month 36 (LS mean change [95%CI]: -4.9 [-7.7, -2.2]; P = 0.0005). GNEM-FAS scores were more severe at baseline in subjects who walked <200 meters versus ≥200 meters in 6 minutes; in both groups, GNEM-FAS total, mobility, UE, and self-care scores decreased from baseline through month 36. Conclusions: These findings demonstrate progressive decline in muscle strength in GNE myopathy and provide insight into the appropriate tools to detect clinically meaningful changes in future GNE myopathy interventional trial
Author(s): Lochmüller H, Behin A, Tournev I, Tarnopolsky M, Horváth R, Pogoryelova O, Shah J, Koutsoukos T, Skrinar A, Kakkis E, Bedrosian C, Mozaffar T
Publication type: Article
Publication status: Published
Journal: Journal of Neuromuscular Disorders
Year: 2021
Volume: 8
Issue: 2
Pages: 225-234
Online publication date: 02/03/2021
Acceptance date: 10/01/2021
Date deposited: 25/08/2023
ISSN (print): 2214-3599
ISSN (electronic): 2214-3602
Publisher: IOS Press
URL: https://doi.org/10.3233/JND-200565
DOI: 10.3233/JND-200565
PubMed id: 33459658
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