Abstract
Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (ERT) for late-onset PD (LOPD). Methods: We systematically searched the MEDLINE (via PubMed), Embase, and Cochrane databases for prospective clinical studies evaluating ERT for LOPD on pre-specified outcomes. A meta-analysis was also performed. Results: Of 1601 articles identified, 22 were included. Studies were heterogeneous and with very low certainty of evidence for most outcomes. The following outcomes showed improvements associated with GAA ERT, over a mean follow-up of 32.5 months: distance walked in the 6-min walking test (6MWT) (mean change 35.7 m (95% confidence interval [CI] 7.78, 63.75)), physical domain of the SF-36 quality of life (QOL) questionnaire (mean change 1.96 (95% CI 0.33, 3.59)), and time on ventilation (TOV) (mean change −2.64 h (95% CI −5.28, 0.00)). There were no differences between the pre- and post-ERT period for functional vital capacity (FVC), Walton and Gardner-Medwin Scale score, upper-limb strength, or total SF-36 QOL score. Adverse events (AEs) after ERT were mild in most cases. Conclusion: Considering the limitations imposed by the rarity of PD, our data suggest that GAA ERT improves 6MWT, physical QOL, and TOV in LOPD patients. ERT was safe in the studied population. PROSPERO register: 135102.
Highlights
Pompe disease (PD), or type II glycogenosis, is a rare genetic disease characterized by progressive neuromuscular involvement, often fatal in severe forms [1]
When clinical onset occurs before the age of 12 months and cardiomyopathy is present, it is known as infantile-onset PD (IOPD); all other forms are referred to as late-onset PD (LOPD) [1,7]
LOPD occurs on a spectrum; patients may present through the second year of life without cardiomyopathy, in childhood, adolescence, or at any point in adult life [1,7]
Summary
Pompe disease (PD), or type II glycogenosis, is a rare genetic disease characterized by progressive neuromuscular involvement, often fatal in severe forms [1] It is caused by deficient activity of acid alpha-glucosidase ( known as acid maltase), a lysosomal enzyme encoded by the GAA gene that breaks down glycogen into glucose [1]. Available treatment options are designed to address the mutant protein and consist of enzyme replacement therapy (ERT) with alglucosidase alfa (MyozymeTM), a form of human acid alpha-glucosidase (GAA) produced by recombinant DNA technology in Chinese hamster ovary cells [2]. A further, significant knowledge gap that still remains is the ideal timing of ERT initiation Within this context, the present systematic review with meta-analysis was designed to evaluate the effects of alglucosidase alfa ERT in LOPD
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