Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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
_version_ 1784597540174299136
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
work_keys_str_mv AT dornellesaliciadorneles asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT jungesanapaulapedroso asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT pereiratiagoveiga asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT krugbarbaracorrea asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT goncalvescandicebeatriztreter asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT llerenajuanclinton asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT kishnanipriyasunil asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT deoliveirahalitonalves asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT schwartzidavanessadoederlein asystematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT dornellesaliciadorneles systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT jungesanapaulapedroso systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT pereiratiagoveiga systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT krugbarbaracorrea systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT goncalvescandicebeatriztreter systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT llerenajuanclinton systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT kishnanipriyasunil systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT deoliveirahalitonalves systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease
AT schwartzidavanessadoederlein systematicreviewandmetaanalysisofenzymereplacementtherapyinlateonsetpompedisease