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.

Autor:	Dornelles AD; Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Pediatric Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Junges APP; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Krug B; Nuclimed, Clinical Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Gonçalves C; Nuclimed, Clinical Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., de Oliveira Junior HA; Health Technology Assessment Unit, Hospital Alemão Oswaldo Cruz, São Paulo, Brazil., Schwartz IVD; Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Nuclimed, Clinical Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Jazyk:	angličtina
Zdroj:	Frontiers in pediatrics [Front Pediatr] 2024 Feb 15; Vol. 12, pp. 1310317. Date of Electronic Publication: 2024 Feb 15 (Print Publication: 2024).
DOI:	10.3389/fped.2024.1310317
Abstrakt:	Introduction: Pompe 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). Methods: We 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. Results: Of 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/m 2 [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. Conclusion: Our data suggest that alglucosidase alfa potentially improves LV mass, TSV, and survival in IOPD patients, with no important safety issues. Systematic Review Registration: PROSPERO identifier (CRD42019123700). Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. (© 2024 Dornelles, Junges, Krug, Gonçalves, de Oliveira Junior and Schwartz.)
Databáze:	MEDLINE
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