Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy - Sorbonne Université
Journal Articles Journal of Neuromuscular Diseases Year : 2021

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

Abstract

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%
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Dates and versions

hal-03420599 , version 1 (09-11-2021)

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Hanns Lochmüller, Anthony Behin, Ivailo Tournev, Mark Tarnopolsky, Rita Horváth, et al.. Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. Journal of Neuromuscular Diseases, 2021, 8 (2), pp.225 - 234. ⟨10.3233/jnd-200565⟩. ⟨hal-03420599⟩
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