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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584814/ https://www.ncbi.nlm.nih.gov/pubmed/34768348 http://dx.doi.org/10.3390/jcm10214828 |
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author | Dornelles, Alícia Dorneles Junges, Ana Paula Pedroso Pereira, Tiago Veiga Krug, Bárbara Corrêa Gonçalves, Candice Beatriz Treter Llerena, Juan Clinton Kishnani, Priya Sunil de Oliveira, Haliton Alves Schwartz, Ida Vanessa Doederlein |
author_facet | Dornelles, Alícia Dorneles Junges, Ana Paula Pedroso Pereira, Tiago Veiga Krug, Bárbara Corrêa Gonçalves, Candice Beatriz Treter Llerena, Juan Clinton Kishnani, Priya Sunil de Oliveira, Haliton Alves Schwartz, Ida Vanessa Doederlein |
author_sort | Dornelles, Alícia Dorneles |
collection | PubMed |
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 | Online Article Text |
id | pubmed-8584814 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-85848142021-11-12 A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease Dornelles, Alícia Dorneles Junges, Ana Paula Pedroso Pereira, Tiago Veiga Krug, Bárbara Corrêa Gonçalves, Candice Beatriz Treter Llerena, Juan Clinton Kishnani, Priya Sunil de Oliveira, Haliton Alves Schwartz, Ida Vanessa Doederlein J Clin Med Review 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. MDPI 2021-10-21 /pmc/articles/PMC8584814/ /pubmed/34768348 http://dx.doi.org/10.3390/jcm10214828 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Dornelles, Alícia Dorneles Junges, Ana Paula Pedroso Pereira, Tiago Veiga Krug, Bárbara Corrêa Gonçalves, Candice Beatriz Treter Llerena, Juan Clinton Kishnani, Priya Sunil de Oliveira, Haliton Alves Schwartz, Ida Vanessa Doederlein A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease |
title | 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_short | 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 |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584814/ https://www.ncbi.nlm.nih.gov/pubmed/34768348 http://dx.doi.org/10.3390/jcm10214828 |
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