{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:09:58Z","timestamp":1777856998965,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T00:00:00Z","timestamp":1614643200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2021,3,2]]},"abstract":"<jats:p>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\u2013Functional 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\u200akg (32.0) at baseline to 29.4\u200akg (32.6) kg at month 36 (LS mean change [95%CI]: \u20133.8\u200akg [\u20135.9, \u20131.7]; P\u200a=\u200a0.0005). Mean (SD) HHD LE composite score decreased from 32.0\u200akg (34.1) at baseline to 25.5\u200akg (31.2) at month 36 (LS mean change [95%CI]: \u20134.9 [\u20137.7, \u20132.2]; P\u200a=\u200a0.0005). GNEM-FAS scores were more severe at baseline in subjects who walked &lt;200 meters versus \u2265200 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 trials.<\/jats:p>","DOI":"10.3233\/jnd-200565","type":"journal-article","created":{"date-parts":[[2021,1,12]],"date-time":"2021-01-12T19:45:30Z","timestamp":1610480730000},"page":"225-234","source":"Crossref","is-referenced-by-count":14,"title":["Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy"],"prefix":"10.1177","volume":"8","author":[{"given":"Hanns","family":"Lochm\u00fcller","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Behin","sequence":"additional","affiliation":[{"name":"APHP, Centre de r\u00e9f\u00e9rence de pathologie neuromusculaire, Institut de Myologie, Groupe Hospitalier Piti\u00e9-Salpetri\u00e8re, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivailo","family":"Tournev","sequence":"additional","affiliation":[{"name":"Expert Center of Genetic Neurologic and Metabolic Disorders, University Hospital Aleksandrovska; Department of Neurology, Medical University - Sofia, Sofia, Bulgaria, Department of Cognitive Science and Psychology, New Bulgarian University, Sofia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Tarnopolsky","sequence":"additional","affiliation":[{"name":"McMaster University Medical Center, Department of Pediatrics, Neuromuscular and Neurometabolic Clinic, Hamilton, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Horv\u00e1th","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oksana","family":"Pogoryelova","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinay","family":"Shah","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony","family":"Koutsoukos","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison","family":"Skrinar","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emil","family":"Kakkis","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camille L.","family":"Bedrosian","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc., Novato, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahseen","family":"Mozaffar","sequence":"additional","affiliation":[{"name":"University of California Irvine, Orange, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","reference":[{"issue":"1","key":"10.3233\/JND-200565_ref1","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/s13023-018-0802-x","article-title":"GNE myopathy: From clinics and genetics to pathology and research strategies","volume":"13","author":"Pogoryelova","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"10.3233\/JND-200565_ref2","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1007\/s13311-018-0671-y","article-title":"GNE myopathy: Etiology, diagnosis, and therapeutic 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Program, registry portion","volume":"28","author":"Pogoryelova","year":"2017","journal-title":"Neuromuscular disorders: NMD"},{"issue":"1","key":"10.3233\/JND-200565_ref9","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1097\/cnd.0000000000000181","article-title":"Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy","volume":"19","author":"Argov","year":"2017","journal-title":"Journal of clinical neuromuscular disease"},{"issue":"4","key":"10.3233\/JND-200565_ref10","doi-asserted-by":"publisher","first-page":"381","DOI":"10.2217\/cer-2017-0062","article-title":"Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale","volume":"7","author":"Mayhew","year":"2017","journal-title":"Journal of Comparative Effectiveness Research"},{"issue":"s2","key":"10.3233\/JND-200565_ref11","doi-asserted-by":"crossref","first-page":"S73","DOI":"10.3233\/JND-150087","article-title":"GNE myopathy: Two clusters with history and several founder mutations","volume":"2","author":"Argov","year":"2015","journal-title":"J Neuromuscul Dis"},{"issue":"9","key":"10.3233\/JND-200565_ref12","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1016\/j.nmd.2015.07.004","article-title":"GNE myopathy in Roma patients homozygous for the p.I618T founder mutation","volume":"25","author":"Chamova","year":"2015","journal-title":"Neuromuscular disorders: NMD"}],"container-title":["Journal of Neuromuscular 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