Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis
IntroductionPompe disease (PD) is a glycogen disorder caused by the 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 infantile-onset PD (IOPD).MethodsWe syste...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-02-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1310317/full |
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| author | A. D. Dornelles A. D. Dornelles A. D. Dornelles A. P. P. Junges B. Krug C. Gonçalves H. A. de Oliveira Junior I. V. D. Schwartz I. V. D. Schwartz I. V. D. Schwartz I. V. D. Schwartz |
| author_facet | A. D. Dornelles A. D. Dornelles A. D. Dornelles A. P. P. Junges B. Krug C. Gonçalves H. A. de Oliveira Junior I. V. D. Schwartz I. V. D. Schwartz I. V. D. Schwartz I. V. D. Schwartz |
| author_sort | A. D. Dornelles |
| collection | DOAJ |
| description | IntroductionPompe disease (PD) is a glycogen disorder caused by the 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 infantile-onset PD (IOPD).MethodsWe systematically searched the MEDLINE (via PubMed) and Embase databases for prospective clinical studies evaluating ERT for IOPD on pre-specified outcomes. Meta-analysis was also performed.ResultsOf 1,722 articles identified, 16 were included, evaluating 316 patients. Studies were heterogeneous and with very low certainty of evidence for most outcomes. A moderate/high risk of bias was present for most included articles. The following outcomes showed improvements associated with alglucosidase alfa, over natural history of PD/placebo, for a mean follow-up of 48.3 months: left ventricular (LV) mass {mean change 131.3 g/m2 [95% confidence interval (CI) 81.02, 181.59]}, time to start ventilation (TSV) [HR 0.21 (95% CI: 0.12, 0.36)], and survival [HR 0.10 (95% CI: 0.05, 0.19)]. There were no differences between the pre- and post-ERT period for myocardial function and psychomotor development. Adverse events (AEs) after ERT were mild in most cases.ConclusionOur data suggest that alglucosidase alfa potentially improves LV mass, TSV, and survival in IOPD patients, with no important safety issues.Systematic Review RegistrationPROSPERO identifier (CRD42019123700). |
| first_indexed | 2024-03-08T00:27:04Z |
| format | Article |
| id | doaj.art-b88b54725ec74b33b8439b5b56204053 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-08T00:27:04Z |
| publishDate | 2024-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-b88b54725ec74b33b8439b5b562040532024-02-15T16:02:13ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-02-011210.3389/fped.2024.13103171310317Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysisA. D. Dornelles0A. D. Dornelles1A. D. Dornelles2A. P. P. Junges3B. Krug4C. Gonçalves5H. A. de Oliveira Junior6I. V. D. Schwartz7I. V. D. Schwartz8I. V. D. Schwartz9I. V. D. Schwartz10Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilPediatric Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilFaculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilMedical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilNuclimed, Clinical Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilNuclimed, Clinical Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilHealth Technology Assessment Unit, Hospital Alemão Oswaldo Cruz, São Paulo, BrazilFaculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilMedical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilNuclimed, Clinical Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilDepartment of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilIntroductionPompe disease (PD) is a glycogen disorder caused by the 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 infantile-onset PD (IOPD).MethodsWe systematically searched the MEDLINE (via PubMed) and Embase databases for prospective clinical studies evaluating ERT for IOPD on pre-specified outcomes. Meta-analysis was also performed.ResultsOf 1,722 articles identified, 16 were included, evaluating 316 patients. Studies were heterogeneous and with very low certainty of evidence for most outcomes. A moderate/high risk of bias was present for most included articles. The following outcomes showed improvements associated with alglucosidase alfa, over natural history of PD/placebo, for a mean follow-up of 48.3 months: left ventricular (LV) mass {mean change 131.3 g/m2 [95% confidence interval (CI) 81.02, 181.59]}, time to start ventilation (TSV) [HR 0.21 (95% CI: 0.12, 0.36)], and survival [HR 0.10 (95% CI: 0.05, 0.19)]. There were no differences between the pre- and post-ERT period for myocardial function and psychomotor development. Adverse events (AEs) after ERT were mild in most cases.ConclusionOur data suggest that alglucosidase alfa potentially improves LV mass, TSV, and survival in IOPD patients, with no important safety issues.Systematic Review RegistrationPROSPERO identifier (CRD42019123700).https://www.frontiersin.org/articles/10.3389/fped.2024.1310317/fullenzyme replacement therapyalglucosidase alfaPompe diseaseglycogen storage disease type IIsystematic reviewmeta-analysis |
| spellingShingle | A. D. Dornelles A. D. Dornelles A. D. Dornelles A. P. P. Junges B. Krug C. Gonçalves H. A. de Oliveira Junior I. V. D. Schwartz I. V. D. Schwartz I. V. D. Schwartz I. V. D. Schwartz Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis Frontiers in Pediatrics enzyme replacement therapy alglucosidase alfa Pompe disease glycogen storage disease type II systematic review meta-analysis |
| title | Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis |
| title_full | Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis |
| title_fullStr | Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis |
| title_full_unstemmed | Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis |
| title_short | Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis |
| title_sort | efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile onset pompe disease a systematic review and metanalysis |
| topic | enzyme replacement therapy alglucosidase alfa Pompe disease glycogen storage disease type II systematic review meta-analysis |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1310317/full |
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