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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; 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

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
Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.
Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, Karamouzian M, Toscano A
J Neurol 2017 Apr;264(4):621-630. Epub 2016 Jul 2 doi: 10.1007/s00415-016-8219-8. PMID: 27372449
A randomized study of alglucosidase alfa in late-onset Pompe's disease.
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA
N Engl J Med 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859. PMID: 20393176

Diagnosis

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Chawla T, Preethish-Kumar V, Polavarapu K, Vengalil S, Bardhan M, Puri R, Verma J, Christopher R, Supriya M, Nashi S, Prasad C, Nadeesh B, Nalini A
J Neuromuscul Dis 2022;9(2):261-273. doi: 10.3233/JND-210728. PMID: 34864681
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

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
Avalglucosidase alfa: First Approval.
Dhillon S
Drugs 2021 Oct;81(15):1803-1809. doi: 10.1007/s40265-021-01600-3. PMID: 34591286
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
Gene Therapy for Pompe Disease: The Time is now.
Colella P, Mingozzi F
Hum Gene Ther 2019 Oct;30(10):1245-1262. Epub 2019 Sep 9 doi: 10.1089/hum.2019.109. PMID: 31298581
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

Prognosis

COVID-19 infection in patients with late-onset Pompe disease.
Avelar J, Wencel M, Chumakova A, Mozaffar T
Muscle Nerve 2022 Mar;65(3):334-336. Epub 2022 Jan 4 doi: 10.1002/mus.27482. PMID: 34952985Free 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
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.
Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group
Neuromuscul Disord 2019 Mar;29(3):167-186. Epub 2018 Dec 17 doi: 10.1016/j.nmd.2018.12.004. PMID: 30770310
Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.
Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, Karamouzian M, Toscano A
J Neurol 2017 Apr;264(4):621-630. Epub 2016 Jul 2 doi: 10.1007/s00415-016-8219-8. PMID: 27372449
A randomized study of alglucosidase alfa in late-onset Pompe's disease.
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA
N Engl J Med 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859. PMID: 20393176

Clinical prediction guides

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
Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.
Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, Karamouzian M, Toscano A
J Neurol 2017 Apr;264(4):621-630. Epub 2016 Jul 2 doi: 10.1007/s00415-016-8219-8. PMID: 27372449
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
A randomized study of alglucosidase alfa in late-onset Pompe's disease.
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA
N Engl J Med 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859. PMID: 20393176

Recent systematic reviews

Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis.
Sarah B, Giovanna B, Emanuela K, Nadi N, Josè V, Alberto P
J Neurol 2022 Feb;269(2):733-741. Epub 2021 Apr 13 doi: 10.1007/s00415-021-10526-5. PMID: 33851281Free 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
Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.
Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, Karamouzian M, Toscano A
J Neurol 2017 Apr;264(4):621-630. Epub 2016 Jul 2 doi: 10.1007/s00415-016-8219-8. PMID: 27372449
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

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