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Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy
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: T...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8075380/ https://www.ncbi.nlm.nih.gov/pubmed/33459658 http://dx.doi.org/10.3233/JND-200565 |
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author | Lochmüller, Hanns Behin, Anthony Tournev, Ivailo Tarnopolsky, Mark Horváth, Rita Pogoryelova, Oksana Shah, Jinay Koutsoukos, Tony Skrinar, Alison Kakkis, Emil Bedrosian, Camille L. Mozaffar, Tahseen |
author_facet | Lochmüller, Hanns Behin, Anthony Tournev, Ivailo Tarnopolsky, Mark Horváth, Rita Pogoryelova, Oksana Shah, Jinay Koutsoukos, Tony Skrinar, Alison Kakkis, Emil Bedrosian, Camille L. Mozaffar, Tahseen |
author_sort | Lochmüller, Hanns |
collection | PubMed |
description | 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 trials. |
format | Online Article Text |
id | pubmed-8075380 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | IOS Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-80753802021-05-11 Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy Lochmüller, Hanns Behin, Anthony Tournev, Ivailo Tarnopolsky, Mark Horváth, Rita Pogoryelova, Oksana Shah, Jinay Koutsoukos, Tony Skrinar, Alison Kakkis, Emil Bedrosian, Camille L. Mozaffar, Tahseen J Neuromuscul Dis Research Report 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 trials. IOS Press 2021-03-02 /pmc/articles/PMC8075380/ /pubmed/33459658 http://dx.doi.org/10.3233/JND-200565 Text en © 2021 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Report Lochmüller, Hanns Behin, Anthony Tournev, Ivailo Tarnopolsky, Mark Horváth, Rita Pogoryelova, Oksana Shah, Jinay Koutsoukos, Tony Skrinar, Alison Kakkis, Emil Bedrosian, Camille L. Mozaffar, Tahseen Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy |
title | Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy |
title_full | Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy |
title_fullStr | Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy |
title_full_unstemmed | Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy |
title_short | Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy |
title_sort | results from a 3-year non-interventional, observational disease monitoring program in adults with gne myopathy |
topic | Research Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8075380/ https://www.ncbi.nlm.nih.gov/pubmed/33459658 http://dx.doi.org/10.3233/JND-200565 |
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