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

• Autor(a) principal: Dornelles, Alícia Dorneles
• Data de Publicação: 2021
• Outros Autores: Junges, Ana Paula Pedroso, Pereira, Tiago da Veiga, Krug, Bárbara Côrrea, Gonçalves, Candice Beatriz Treter, Llerena Junior, Juan Clinton, Kishnani, Priya Sunil, Oliveira Junior, Haliton Alves de
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/252513
• topic: Doença de depósito de glicogênio tipo II; Alfa-glucosidases; Terapia de reposição de enzimas; Pompe disease; Alpha-glucosidase; Enzyme replacement therapy; Glycogen storage disease type II

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.