Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis

被引:32
作者
Sarah, Berli [1 ]
Giovanna, Brandi [1 ]
Emanuela, Keller [1 ,2 ,3 ,4 ]
Nadi, Najia [1 ]
Jose, Vitale [5 ,6 ]
Alberto, Pagnamenta [5 ,7 ,8 ]
机构
[1] Univ Hosp Zurich, Inst Intens Care Med, Ramistr 100, CH-8091 Zurich, Switzerland
[2] Univ Hosp, Dept Neurosurg, Zurich, Switzerland
[3] Univ Hosp, Clin Neurosci Ctr, Zurich, Switzerland
[4] Univ Zurich, Zurich, Switzerland
[5] Ente Osped Cantonale, Reg Hosp Mendrisio, Intens Care Unit, Bellinzona, Switzerland
[6] Ctr Med, Mendrisio, Switzerland
[7] Ente Osped Cantonale, Unit Biostat, Bellinzona, Switzerland
[8] Univ Hosp Geneva, Div Pneumol, Geneva, Switzerland
关键词
Pompe disease; Gycogen storage disease type II; Late-onset Pompe disease; Enzyme replacement therapy; Recombinant human alpha-glucosidase; Systematic review; Meta-analyse; ALGLUCOSIDASE ALPHA; CONSENSUS; OUTCOMES; ADULTS;
D O I
10.1007/s00415-021-10526-5
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
In patients with late-onset Pompe disease (LOPD), the efficacy of the enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA) is difficult to evaluate, due to the clinical heterogeneity and the small sample sizes in published studies. Therefore, we conduct a systematic literature review and meta-analysis of the literature to evaluate the efficacy of ERT in LOPD patients considering the walking distance, respiratory function and muscle strength. Particularly, six-minute walk test (6MWT), forced vital capacity (FVC), medical research council (MRC) grading, quantitative muscle testing (QMT), and quick motor function test (QMFT) were outcomes of interest. Overall, 619 studies were identified in PubMed, EMBASE and by manual search on July 18th, 2020. After an initial assessment, 16 studies were included in the meta-analysis, containing clinical data from 589 patients with LOPD. For the 6MWT, 419 patients were analyzed. Walking distance improved on average, 32.2 m greater during the observed period (p = 0.0003), compared to the distance at the baseline. The meta-analysis did not show any improvement in FVC and only a tendency towards better muscle strength after treatment with ERT, but the difference was not statistically significant. In conclusion, the available data showed that ERT has a significant beneficial efficacy in the improvement of walking distance in LOPD patients and a non-significant improvement of muscle strength. No improvement in respiratory capacity was found. More prospective and controlled trials are needed to demonstrate a clear clinical benefit of ERT.
引用
收藏
页码:733 / 741
页数:9
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