Consensus treatment recommendations for late-onset Pompe disease

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: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease.

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.

FIGURE 1

Timeline for Pompe disease: 75 years from description to availability of disease-modifying agent. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]

FIGURE 2

Pathophysiology of Pompe disease. GAA, acid alpha-glucosidase; UDP, uridine diphosphate. Based on Raben et al. with permission. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]

FIGURE 3

Multidisciplinary approach for the management and care of Pompe disease. Based on Kishnani et al. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]

FIGURE 4

Changes from baseline in distance walked and in forced vital capacity according to study group. Based on van der Ploeg et al. (A) and van der Ploeg et al. (B) with permission. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]