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Results of an open label feasibility study of sodium valproate in people with McArdle disease

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Harvard

Scalco, RS, Stemmerik, M, Løkken, N, Vissing, CR, Madsen, KL, Michalak, Z, Pattni, J, Godfrey, R, Samandouras, G, Bassett, P, Holton, JL, Krag, T, Haller, RG, Sewry, C, Wigley, R, Vissing, J & Quinlivan, R 2020, 'Results of an open label feasibility study of sodium valproate in people with McArdle disease', Neuromuscular disorders : NMD, vol. 30, no. 9, pp. 734-741. https://doi.org/10.1016/j.nmd.2020.04.009

APA

Scalco, R. S., Stemmerik, M., Løkken, N., Vissing, C. R., Madsen, K. L., Michalak, Z., Pattni, J., Godfrey, R., Samandouras, G., Bassett, P., Holton, J. L., Krag, T., Haller, R. G., Sewry, C., Wigley, R., Vissing, J., & Quinlivan, R. (2020). Results of an open label feasibility study of sodium valproate in people with McArdle disease. Neuromuscular disorders : NMD, 30(9), 734-741. https://doi.org/10.1016/j.nmd.2020.04.009

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MLA

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Author

Scalco, Renata S ; Stemmerik, Mads ; Løkken, Nicoline ; Vissing, Christoffer R ; Madsen, Karen L ; Michalak, Zuzanna ; Pattni, Jatin ; Godfrey, Richard ; Samandouras, George ; Bassett, Paul ; Holton, Janice L ; Krag, Thomas ; Haller, Ronald G ; Sewry, C ; Wigley, Ralph ; Vissing, John ; Quinlivan, Ros. / Results of an open label feasibility study of sodium valproate in people with McArdle disease. In: Neuromuscular disorders : NMD. 2020 ; Vol. 30, No. 9. pp. 734-741.

Bibtex

@article{cf85f7ad75c3455285adfdf35422d839,
title = "Results of an open label feasibility study of sodium valproate in people with McArdle disease",
abstract = "McArdle disease results from a lack of muscle glycogen phosphorylase in skeletal muscle tissue. Regenerating skeletal muscle fibres can express the brain glycogen phosphorylase isoenzyme. Stimulating expression of this enzyme could be a therapeutic strategy. Animal model studies indicate that sodium valproate (VPA) can increase expression of phosphorylase in skeletal muscle affected with McArdle disease. This study was designed to assess whether VPA can modify expression of brain phosphorylase isoenzyme in people with McArdle disease. This phase II, open label, feasibility pilot study to assess efficacy of six months treatment with VPA (20 mg/kg/day) included 16 people with McArdle disease. Primary outcome assessed changes in VO2peak during an incremental cycle test. Secondary outcomes included: phosphorylase enzyme expression in post-treatment muscle biopsy, total distance walked in 12 min, plasma lactate change (forearm exercise test) and quality of life (SF36). Safety parameters. 14 participants completed the trial, VPA treatment was well tolerated; weight gain was the most frequently reported drug-related adverse event. There was no clinically meaningful change in any of the primary or secondary outcome measures including: VO2peak, 12 min walk test and muscle biopsy to look for a change in the number of phosphorylase positive fibres between baseline and 6 months of treatment. Although this was a small open label feasibility study, it suggests that a larger randomised controlled study of VPA, may not be worthwhile.",
keywords = "12 min walking test, Glycogen storage disease type V, Outcome measures, Sodium valproate (VPA), VO2peak",
author = "Scalco, {Renata S} and Mads Stemmerik and Nicoline L{\o}kken and Vissing, {Christoffer R} and Madsen, {Karen L} and Zuzanna Michalak and Jatin Pattni and Richard Godfrey and George Samandouras and Paul Bassett and Holton, {Janice L} and Thomas Krag and Haller, {Ronald G} and C Sewry and Ralph Wigley and John Vissing and Ros Quinlivan",
note = "Copyright {\textcopyright} 2020 Elsevier B.V. All rights reserved.",
year = "2020",
month = sep,
doi = "10.1016/j.nmd.2020.04.009",
language = "English",
volume = "30",
pages = "734--741",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Ltd",
number = "9",

}

RIS

TY - JOUR

T1 - Results of an open label feasibility study of sodium valproate in people with McArdle disease

AU - Scalco, Renata S

AU - Stemmerik, Mads

AU - Løkken, Nicoline

AU - Vissing, Christoffer R

AU - Madsen, Karen L

AU - Michalak, Zuzanna

AU - Pattni, Jatin

AU - Godfrey, Richard

AU - Samandouras, George

AU - Bassett, Paul

AU - Holton, Janice L

AU - Krag, Thomas

AU - Haller, Ronald G

AU - Sewry, C

AU - Wigley, Ralph

AU - Vissing, John

AU - Quinlivan, Ros

N1 - Copyright © 2020 Elsevier B.V. All rights reserved.

PY - 2020/9

Y1 - 2020/9

N2 - McArdle disease results from a lack of muscle glycogen phosphorylase in skeletal muscle tissue. Regenerating skeletal muscle fibres can express the brain glycogen phosphorylase isoenzyme. Stimulating expression of this enzyme could be a therapeutic strategy. Animal model studies indicate that sodium valproate (VPA) can increase expression of phosphorylase in skeletal muscle affected with McArdle disease. This study was designed to assess whether VPA can modify expression of brain phosphorylase isoenzyme in people with McArdle disease. This phase II, open label, feasibility pilot study to assess efficacy of six months treatment with VPA (20 mg/kg/day) included 16 people with McArdle disease. Primary outcome assessed changes in VO2peak during an incremental cycle test. Secondary outcomes included: phosphorylase enzyme expression in post-treatment muscle biopsy, total distance walked in 12 min, plasma lactate change (forearm exercise test) and quality of life (SF36). Safety parameters. 14 participants completed the trial, VPA treatment was well tolerated; weight gain was the most frequently reported drug-related adverse event. There was no clinically meaningful change in any of the primary or secondary outcome measures including: VO2peak, 12 min walk test and muscle biopsy to look for a change in the number of phosphorylase positive fibres between baseline and 6 months of treatment. Although this was a small open label feasibility study, it suggests that a larger randomised controlled study of VPA, may not be worthwhile.

AB - McArdle disease results from a lack of muscle glycogen phosphorylase in skeletal muscle tissue. Regenerating skeletal muscle fibres can express the brain glycogen phosphorylase isoenzyme. Stimulating expression of this enzyme could be a therapeutic strategy. Animal model studies indicate that sodium valproate (VPA) can increase expression of phosphorylase in skeletal muscle affected with McArdle disease. This study was designed to assess whether VPA can modify expression of brain phosphorylase isoenzyme in people with McArdle disease. This phase II, open label, feasibility pilot study to assess efficacy of six months treatment with VPA (20 mg/kg/day) included 16 people with McArdle disease. Primary outcome assessed changes in VO2peak during an incremental cycle test. Secondary outcomes included: phosphorylase enzyme expression in post-treatment muscle biopsy, total distance walked in 12 min, plasma lactate change (forearm exercise test) and quality of life (SF36). Safety parameters. 14 participants completed the trial, VPA treatment was well tolerated; weight gain was the most frequently reported drug-related adverse event. There was no clinically meaningful change in any of the primary or secondary outcome measures including: VO2peak, 12 min walk test and muscle biopsy to look for a change in the number of phosphorylase positive fibres between baseline and 6 months of treatment. Although this was a small open label feasibility study, it suggests that a larger randomised controlled study of VPA, may not be worthwhile.

KW - 12 min walking test

KW - Glycogen storage disease type V

KW - Outcome measures

KW - Sodium valproate (VPA)

KW - VO2peak

UR - http://www.scopus.com/inward/record.url?scp=85089452372&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2020.04.009

DO - 10.1016/j.nmd.2020.04.009

M3 - Journal article

C2 - 32811700

VL - 30

SP - 734

EP - 741

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 9

ER -

ID: 61071630