A systematic review and meta-analysis of enzyme replacement therapy in late-onset Pompe disease

Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Programa de Pós-Graduação em Ciências Médicas. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.
Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Porto Alegre, RS, Brasil.
Applied Health Research Centre. Li Ka Shing Knowledge Institute. St Michael's Hospital. Toronto, ON, Canada / University of Leicester. College of Medicine. Department of Health Sciences. Leicester, UK.
Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Clínica. Núcleo de Investigação Clínica em Medicamentos. Porto Alegre, RS, Brasil.
Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Clínica. Núcleo de Investigação Clínica em Medicamentos. Porto Alegre, RS, Brasil.
Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Rio de Janeiro, RJ, Brasil.
Duke University Medical Center. Department of Pediatrics. Durham, NC, USA.
Hospital Alemão Oswaldo Cruz. Avaliação em Tecnologias da Saúde. São Paulo, SP, Brasil.
Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Programa de Pós-Graduação em Ciências Médicas. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Clínica. Núcleo de Investigação Clínica em Medicamentos. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Departamento de Genética. Porto Alegre, RS, Brasil.

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.

Keywords

Glycogen storage disease type II
Alpha-glucosidase
Pompe disease
Enzyme replacement therapy

Publisher

MDPI

Citation

DORNELLES, Alícia Dorneles et al. A systematic review and meta-analysis of enzyme replacement therapy in late-onset Pompe disease. Journal of Clinical Medicine, v. 10, n. 21, p. 1-19, 21 Oct. 2021.

DOI

10.3390/jcm10214828

ISSN

2077-0383

Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/49951

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Open access

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