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黏多糖贮积症 VI 的酶替代治疗:重组人 N-乙酰半乳糖胺-4-硫酸酯酶治疗患者的长期肺功能评估。

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

机构信息

Children's Hospital & Research Center Oakland, CA 94609, USA.

出版信息

J Inherit Metab Dis. 2010 Feb;33(1):51-60. doi: 10.1007/s10545-009-9007-8. Epub 2010 Feb 6.

DOI:10.1007/s10545-009-9007-8
PMID:20140523
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2828556/
Abstract

Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). Pulmonary function was studied in patients during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB; rhN-acetylgalactosamine 4-sulfatase). Pulmonary function tests prior to and for up to 240 weeks of weekly infusions of rhASB at 1 mg/kg were completed in 56 patients during Phase 1/2, Phase 2, Phase 3 and Phase 3 Extension trials of rhASB and the Survey Study. Forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1) and, in a subset of patients, maximum voluntary ventilation (MVV), were analyzed as absolute volume in liters. FEV1 and FVC showed little change from baseline during the first 24 weeks of ERT, but after 96 weeks, these parameters increased over baseline by 11% and 17%, respectively. This positive trend compared with baseline continued beyond 96 weeks of treatment. Improvements from baseline in pulmonary function occurred along with gains in height in the younger group (5.5% change) and in the older patient group (2.4% change) at 96 weeks. Changes in MVV occurred earlier within 24 weeks of treatment to approximately 15% over baseline. Model results based on data from all trials showed significant improvements in the rate of change in pulmonary function during 96 weeks on ERT, whereas little or no improvement was observed for the same time period prior to ERT. Thus, analysis of mean percent change data and longitudinal modeling both indicate that long-term ERT resulted in improvement in pulmonary function in MPS VI patients.

摘要

未治疗的黏多糖贮积症 VI 型(MPS VI)患者的肺功能受损。在接受重组人芳基硫酸酯酶 B(rhASB;rhN-乙酰半乳糖胺 4-硫酸酯酶)长期酶替代治疗(ERT)的患者中研究了肺功能。在 rhASB 的 1 毫克/千克每周输注的 1 期/2 期、2 期、3 期和 3 期扩展试验以及调查研究中,56 例患者完成了治疗前和最多 240 周的肺功能检查。用力肺活量(FVC)、1 秒用力呼气量(FEV1)以及部分患者的最大自主通气量(MVV)均以升为单位进行分析。FEV1 和 FVC 在 ERT 的前 24 周内与基线相比变化不大,但在 96 周后,这两个参数分别增加了 11%和 17%。这种与基线相比的积极趋势在 96 周的治疗后仍在继续。与基线相比,在年轻组(5.5%的变化)和年长患者组(2.4%的变化)中,肺功能在 96 周时的改善与身高的增加同时发生。在治疗的前 24 周内,MVV 较早地发生变化,比基线增加了约 15%。所有试验数据的模型结果显示,ERT 期间肺功能变化率在 96 周内显著改善,而在 ERT 前相同时间段内几乎没有或没有改善。因此,平均百分比变化数据的分析和纵向建模均表明,长期 ERT 可改善 MPS VI 患者的肺功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ad/2828556/0b9d6b6249a2/10545_2009_9007_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ad/2828556/174c3cbe68dd/10545_2009_9007_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ad/2828556/df8fbd57d234/10545_2009_9007_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ad/2828556/0b9d6b6249a2/10545_2009_9007_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ad/2828556/174c3cbe68dd/10545_2009_9007_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ad/2828556/df8fbd57d234/10545_2009_9007_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ad/2828556/0b9d6b6249a2/10545_2009_9007_Fig3_HTML.jpg

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