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Quoted phrase not found in phrase index: "Myopathy Secondary to Glycogen Storage Disorder"
Page 1
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Diaz-Manera J, et al. Lancet Neurol. 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. Lancet Neurol. 2021. PMID: 34800399 Clinical Trial.
BACKGROUND: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzyme re …
BACKGROUND: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA) a …
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Kishnani PS, et al. JAMA Neurol. 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. JAMA Neurol. 2023. PMID: 37036722 Free PMC article. Clinical Trial.
MAIN OUTCOMES AND MEASURES: The primary outcome was the least squares (LS) mean change from baseline in FVC percent predicted. Secondary outcomes included the LS mean change from baseline in 6MWT, muscle strength, motor function, quality of life, and disease …
MAIN OUTCOMES AND MEASURES: The primary outcome was the least squares (LS) mean change from baseline in FVC percent predicted. Sec …
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B; NEO-EXT investigators. Dimachkie MM, et al. Neurology. 2022 Aug 1;99(5):e536-e548. doi: 10.1212/WNL.0000000000200746. Neurology. 2022. PMID: 35618441 Free PMC article.
BACKGROUND AND OBJECTIVES: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of lysosomal acid alpha-glucosidase (GAA) and subsequent glycogen accumulation. Avalglucosidase alfa, a recombinant human GAA enzyme replacement therap …
BACKGROUND AND OBJECTIVES: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of lysosomal acid …
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M. Lefèvre CR, et al. J Inherit Metab Dis. 2024 Mar;47(2):255-269. doi: 10.1002/jimd.12692. Epub 2023 Nov 27. J Inherit Metab Dis. 2024. PMID: 38012812 Review.
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzyme) deficiency …
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterog …
Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).
Üsküdar Cansu D, Erdoğan B, Korkmaz C. Üsküdar Cansu D, et al. Clin Rheumatol. 2019 Oct;38(10):2941-2948. doi: 10.1007/s10067-019-04572-8. Epub 2019 May 1. Clin Rheumatol. 2019. PMID: 31044384 Review.
Clinical manifestation of metabolic diseases leading to secondary hyperuricemia most predominantly occurs in the form of gouty arthritis. Hyperuricemia and gout may develop during the course of glycogen storage diseases (GSD), particularl …
Clinical manifestation of metabolic diseases leading to secondary hyperuricemia most predominantly occurs in the form of gouty …
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.
Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME. Harlaar L, et al. Neurology. 2019 Nov 5;93(19):e1756-e1767. doi: 10.1212/WNL.0000000000008441. Epub 2019 Oct 16. Neurology. 2019. PMID: 31619483 Free PMC article.

Baseline FVC upright was 54% of predicted (IQR 47%-68%) and decreased by 11 pp over 10 years (p < 0.001). ...CONCLUSIONS: The majority of patients with Pompe disease benefit from long-term ERT, but many patients experience some secondary decline after 3 to

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Baseline FVC upright was 54% of predicted (IQR 47%-68%) and decreased by 11 pp over 10 years (p < 0.001). ...CONCLUSIONS: The majo

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Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study).
Yamauchi M, Nakayama H, Shiota S, Ohshima Y, Terada J, Nishijima T, Kosuga M, Kitamura T, Tachibana N, Oguri T, Shirahama R, Aoki Y, Ishigaki K, Sugie K, Yagi T, Muraki H, Fujita Y, Takatani T, Muro S. Yamauchi M, et al. Sleep Breath. 2021 Jun;25(2):695-704. doi: 10.1007/s11325-020-02170-6. Epub 2020 Aug 18. Sleep Breath. 2021. PMID: 32808237
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the acid alpha-glucosidase (GAA) enzyme. ...Pompe disease is one of the few myopathies, for which an established therapy is available. ...
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the acid alpha-glucosidase (GAA) enzyme. …
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A, Danesino C, Pittis MG, Dardis A, Ravaglia S. Bembi B, et al. J Inherit Metab Dis. 2010 Dec;33(6):727-35. doi: 10.1007/s10545-010-9201-8. Epub 2010 Sep 14. J Inherit Metab Dis. 2010. PMID: 20838899 Clinical Trial.
OBJECTIVES: Type II glycogenosis (GSDII) is a lysosomal storage disorder due to acid alpha-glucosidase (GAA) deficiency. Enzyme replacement therapy (ERT) with human recombinant alpha-glucosidase (rhGAA) has been demonstrated to be effective in the treatment of infan …
OBJECTIVES: Type II glycogenosis (GSDII) is a lysosomal storage disorder due to acid alpha-glucosidase (GAA) deficiency. Enzym …
Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice.
Ding EY, Hodges BL, Hu H, McVie-Wylie AJ, Serra D, Migone FK, Pressley D, Chen YT, Amalfitano A. Ding EY, et al. Hum Gene Ther. 2001 May 20;12(8):955-65. doi: 10.1089/104303401750195917. Hum Gene Ther. 2001. PMID: 11387060
Glycogen storage disease type II (GSD-II) is a lethal, autosomal recessive metabolic myopathy caused by a lack of acid-alpha-glucosidase (GAA) activity in the cardiac and skeletal muscles. Absence of adequate intralysosomal GAA activity results in mass …
Glycogen storage disease type II (GSD-II) is a lethal, autosomal recessive metabolic myopathy caused by a lack o …
Spontaneous Restoration of Nutrition Autonomy in a Case of Intestinal Failure Secondary to a Gastrointestinal Neuromuscular Disease.
McCulloch A, Malhi H, Parkinson S, Martin JE, Cooper SC. McCulloch A, et al. Nutr Clin Pract. 2019 Dec;34(6):935-939. doi: 10.1002/ncp.10312. Epub 2019 May 10. Nutr Clin Pract. 2019. PMID: 31074888
Polyglucosan inclusion body myopathy (PIBM) is a recently described gastrointestinal neuromuscular disease. Given its rarity, very little is known of its natural history and prognosis. In this case report, we present the first case of PIBM and resultant intes …
Polyglucosan inclusion body myopathy (PIBM) is a recently described gastrointestinal neuromuscular disease. Given its rarity, …
13 results