A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease

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...

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Autores principales:	Alícia Dorneles Dornelles, Ana Paula Pedroso Junges, Tiago Veiga Pereira, Bárbara Corrêa Krug, Candice Beatriz Treter Gonçalves, Juan Clinton Llerena, Priya Sunil Kishnani, Haliton Alves de Oliveira, Ida Vanessa Doederlein Schwartz
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	glycogen storage disease type II alpha-glucosidase Pompe disease enzyme replacement therapy Medicine R
Acceso en línea:	https://doaj.org/article/1c5d900c95db4428981b0e9388357da8
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spelling	oai:doaj.org-article:1c5d900c95db4428981b0e9388357da82021-11-11T17:29:54ZA Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease10.3390/jcm102148282077-0383https://doaj.org/article/1c5d900c95db4428981b0e9388357da82021-10-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/21/4828https://doaj.org/toc/2077-0383Pompe 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.Alícia Dorneles DornellesAna Paula Pedroso JungesTiago Veiga PereiraBárbara Corrêa KrugCandice Beatriz Treter GonçalvesJuan Clinton LlerenaPriya Sunil KishnaniHaliton Alves de OliveiraIda Vanessa Doederlein SchwartzMDPI AGarticleglycogen storage disease type IIalpha-glucosidasePompe diseaseenzyme replacement therapyMedicineRENJournal of Clinical Medicine, Vol 10, Iss 4828, p 4828 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	glycogen storage disease type II alpha-glucosidase Pompe disease enzyme replacement therapy Medicine R
spellingShingle	glycogen storage disease type II alpha-glucosidase Pompe disease enzyme replacement therapy Medicine R Alícia Dorneles Dornelles Ana Paula Pedroso Junges Tiago Veiga Pereira Bárbara Corrêa Krug Candice Beatriz Treter Gonçalves Juan Clinton Llerena Priya Sunil Kishnani Haliton Alves de Oliveira Ida Vanessa Doederlein Schwartz A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
description	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.
format	article
author	Alícia Dorneles Dornelles Ana Paula Pedroso Junges Tiago Veiga Pereira Bárbara Corrêa Krug Candice Beatriz Treter Gonçalves Juan Clinton Llerena Priya Sunil Kishnani Haliton Alves de Oliveira Ida Vanessa Doederlein Schwartz
author_facet	Alícia Dorneles Dornelles Ana Paula Pedroso Junges Tiago Veiga Pereira Bárbara Corrêa Krug Candice Beatriz Treter Gonçalves Juan Clinton Llerena Priya Sunil Kishnani Haliton Alves de Oliveira Ida Vanessa Doederlein Schwartz
author_sort	Alícia Dorneles Dornelles
title	A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
title_short	A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
title_full	A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
title_fullStr	A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
title_full_unstemmed	A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease
title_sort	systematic review and meta-analysis of enzyme replacement therapy in late-onset pompe disease
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/1c5d900c95db4428981b0e9388357da8
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A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease

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