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用阿糖苷酶α进行酶替代疗法治疗婴儿型庞贝病患者的疗效和安全性：一项系统评价和荟萃分析

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.

作者信息

Dornelles A D, Junges A P P, Krug B, Gonçalves C, de Oliveira Junior H A, Schwartz I V D

机构信息

Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Pediatric Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

出版信息

Front Pediatr. 2024 Feb 15;12:1310317. doi: 10.3389/fped.2024.1310317. eCollection 2024.

DOI:10.3389/fped.2024.1310317
PMID:38425665
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10903525/
Abstract

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 [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).

摘要

引言

庞贝病（PD）是一种由酸性α-葡萄糖苷酶（GAA）活性不足引起的糖原代谢紊乱疾病。我们旨在综述重组人GAA酶替代疗法（ERT）治疗婴儿型庞贝病（IOPD）的安全性和有效性的最新证据。

方法

我们系统检索了MEDLINE（通过PubMed）和Embase数据库，以查找评估ERT治疗IOPD的预先指定结局的前瞻性临床研究。还进行了荟萃分析。

结果

在检索到的1722篇文章中，纳入了16篇，共评估了316例患者。研究具有异质性，大多数结局的证据确定性非常低。大多数纳入文章存在中度/高度偏倚风险。以下结局显示，在平均48.3个月的随访中，与天然病程的庞贝病/安慰剂相比，阿糖苷酶α治疗有改善：左心室（LV）质量{平均变化131.3 g/m [95%置信区间（CI）81.02，181.59]}、开始通气时间（TSV）[风险比（HR）0.21（95%CI：0.12，0.36）]和生存率[HR 0.10（95%CI：0.05，0.19）]。ERT前后心肌功能和精神运动发育无差异。ERT后的不良事件（AE）在大多数情况下较轻。

结论

我们的数据表明，阿糖苷酶α可能改善IOPD患者的LV质量、TSV和生存率，且无重大安全问题。

系统评价注册

PROSPERO标识符（CRD42019123700）。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/10903525/e6eb459be5ef/fped-12-1310317-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/10903525/110e0e474d56/fped-12-1310317-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/10903525/e6eb459be5ef/fped-12-1310317-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/10903525/110e0e474d56/fped-12-1310317-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/10903525/713ea08d7177/fped-12-1310317-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/10903525/a0f9edf259c7/fped-12-1310317-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/10903525/3e12b84489f4/fped-12-1310317-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f04/10903525/e6eb459be5ef/fped-12-1310317-g005.jpg

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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.子宫内酶替代疗法治疗婴儿期起病庞贝病。
N Engl J Med. 2022 Dec 8;387(23):2150-2158. doi: 10.1056/NEJMoa2200587. Epub 2022 Nov 9.
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A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.
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Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy.庞贝病治疗进展：从酶替代疗法到基因治疗。
Mol Diagn Ther. 2024 Nov;28(6):703-719. doi: 10.1007/s40291-024-00733-x. Epub 2024 Aug 12.
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