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Glycogen storage disease due to acid maltase deficiency, late-onset

MedGen UID:
575206
•Concept ID:
C0342753
•
Disease or Syndrome
Synonyms: Alpha-1,4-glucosidase acid deficiency, late onset; Alpha-1,4-glucosidase acid deficiency, late-onset; glycogen storage disease due to acid maltase deficiency, late-onset; glycogen storage disease type 2, late onset; Glycogen storage disease type 2, late-onset; glycogen storage disease type 2, late-onset; Glycogen storage disease type II late onset; glycogen storage disease type II, late onset; glycogen storage disease type II, late-onset; Glycogen storage disease type II, late-onset; glycogenosis type 2, late onset; Glycogenosis type 2, late-onset; glycogenosis type 2, late-onset; Glycogenosis type II, late onset; glycogenosis type II, late onset; Glycogenosis type II, late-onset; glycogenosis type II, late-onset; GSD due to acid maltase deficiency, late onset; GSD due to acid maltase deficiency, late-onset; GSD type 2, late onset; GSD type 2, late-onset; GSD type II, late onset; GSD type II, late-onset; LOPD; Pompe disease, late onset; Pompe disease, late-onset
SNOMED CT: Glycogen storage disease type II late onset (722343009); Glycogen storage disease due to acid maltase deficiency, late-onset (722343009); Alpha-1,4-glucosidase acid deficiency, late onset (722343009); Glycogenosis type II, late onset (722343009); Pompe disease, late onset (722343009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018485
Orphanet: ORPHA420429

Definition

Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Glycogen storage disease due to acid maltase deficiency, late-onset

Professional guidelines

PubMed

Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N
Arch Argent Pediatr 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. PMID: 31339275
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article

Recent clinical studies

Etiology

Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free PMC Article
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
JAMA Neurol 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. PMID: 37036722Free PMC Article
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group
Lancet Neurol 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. PMID: 34800400
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
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article

Diagnosis

A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M
Biomolecules 2023 Aug 22;13(9) doi: 10.3390/biom13091279. PMID: 37759679Free PMC Article
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N
Arch Argent Pediatr 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. PMID: 31339275
Late-onset Pompe's disease.
Teener JW
Semin Neurol 2012 Nov;32(5):506-11. Epub 2013 May 15 doi: 10.1055/s-0033-1334469. PMID: 23677658
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article

Therapy

Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free PMC Article
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M
Biomolecules 2023 Aug 22;13(9) doi: 10.3390/biom13091279. PMID: 37759679Free PMC Article
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group
Lancet Neurol 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. PMID: 34800400
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
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article

Prognosis

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group
J Neurol 2024 May;271(5):2810-2823. Epub 2024 Feb 28 doi: 10.1007/s00415-024-12236-0. PMID: 38418563Free PMC Article
Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free PMC Article
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
JAMA Neurol 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. PMID: 37036722Free PMC Article
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
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Molecular Approaches for the Treatment of Pompe Disease.
Bellotti AS, Andreoli L, Ronchi D, Bresolin N, Comi GP, Corti S
Mol Neurobiol 2020 Feb;57(2):1259-1280. Epub 2019 Nov 12 doi: 10.1007/s12035-019-01820-5. PMID: 31713816

Clinical prediction guides

Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free PMC Article
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
JAMA Neurol 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. PMID: 37036722Free PMC Article
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group
Lancet Neurol 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. PMID: 34800400
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
Lancet Neurol 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. PMID: 34800399
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article

Recent systematic reviews

Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free PMC Article
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS
Mol Genet Metab 2017 Mar;120(3):163-172. Epub 2016 Dec 11 doi: 10.1016/j.ymgme.2016.12.004. PMID: 28185884
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.
Toscano A, Schoser B
J Neurol 2013 Apr;260(4):951-9. Epub 2012 Aug 28 doi: 10.1007/s00415-012-6636-x. PMID: 22926164
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve 2012 Mar;45(3):319-33. Epub 2011 Dec 15 doi: 10.1002/mus.22329. PMID: 22173792Free PMC Article
Clinical and histologic ocular findings in pompe disease.
Yanovitch TL, Banugaria SG, Proia AD, Kishnani PS
J Pediatr Ophthalmol Strabismus 2010 Jan-Feb;47(1):34-40. Epub 2010 Jan 21 doi: 10.3928/01913913-20100106-08. PMID: 20128552

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