Results of an open label feasibility study of sodium valproate in people with McArdle disease.
12 min walking test
Glycogen storage disease type V
Outcome measures
Sodium valproate (VPA)
VO2peak
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
20
01
2020
revised:
21
04
2020
accepted:
28
04
2020
pubmed:
20
8
2020
medline:
4
9
2021
entrez:
20
8
2020
Statut:
ppublish
Résumé
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 VO
Identifiants
pubmed: 32811700
pii: S0960-8966(20)30101-2
doi: 10.1016/j.nmd.2020.04.009
pii:
doi:
Substances chimiques
Valproic Acid
614OI1Z5WI
Glycogen Phosphorylase
EC 2.4.1.-
Phosphorylases
EC 2.4.1.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
734-741Subventions
Organisme : Department of Health
Pays : United Kingdom
Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.