Consensus Treatment Recommendations for Late-onset Pompe Disease

Overview

Journal Muscle Nerve

Date 2011 Dec 17

PMID 22173792

Citations 65

Authors

Edward J Cupler

Kenneth I Berger

Robert T Leshner

Gil I Wolfe

Jay J Han

Richard J Barohn

John T Kissel

Affiliations

Soon will be listed here.

Abstract

Introduction: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders.

Methods: A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken.

Conclusions: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued.

Citing Articles

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Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.

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Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.

Schoser B, Attarian S, Graham R, Holdbrook F, Goldman M, Diaz-Manera J J Neurol. 2025; 272(1):103.

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Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.

Kishnani P, Byrne B, Claeys K, Diaz-Manera J, Dimachkie M, Kushlaf H J Patient Rep Outcomes. 2024; 8(1):132.

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Association between under-dose of enzyme replacement therapy and quality of life in adults with late-onset Pompe disease in China: A retrospective matched cohort study.

Zhang H, Chen S, Xu R, Yu S, Yu J, Dong D PLoS One. 2024; 19(9):e0310534.

PMID: 39288112 PMC: 11407662. DOI: 10.1371/journal.pone.0310534.

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