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Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy

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

Publication metadata

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


DOI: 10.3233/JND-200565

PubMed id: 33459658


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