Abstract:
:Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the safety, efficacy and pharmacokinetics of agalsidase alfa (Replagal) administered intravenously to female patients with Fabry disease in an open-label, single-centre study. Fifteen severely affected patients received agalsidase alfa at 0.2 mg/kg every other week for up to 55 weeks. Agalsidase alfa was safe and well-tolerated in female patients. None of the patients developed antibodies or experienced an infusion reaction to agalsidase alfa. The pharmacokinetic profile of agalsidase alfa in female patients is comparable to the pharmacokinetics of agalsidase alfa in male patients. Mean urine sediment and plasma Gb3 levels decreased from baseline at 13, 27 and 41 weeks. A significant decrease in left ventricular mass from baseline was seen at weeks 27 (p = 0.003) and 41 (p = 0.039), and a significant reduction in QRS durations was seen at week 27 (p = 0.007). Furthermore, there was a significant improvement in quality of life. Renal function did not deteriorate in these 15 female patients over the 13- to 41-week period of observation. We conclude that enzyme replacement therapy with agalsidase alfa was safe and effective in female patients heterozygous for Fabry disease.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Baehner F,Kampmann C,Whybra C,Miebach E,Wiethoff CM,Beck Mdoi
10.1023/b:boli.0000005658.14563.77keywords:
subject
Has Abstractpub_date
2003-01-01 00:00:00pages
617-27issue
7eissn
0141-8955issn
1573-2665pii
5254756journal_volume
26pub_type
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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journal_title:Journal of inherited metabolic disease
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更新日期:2005-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:1987-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01811317
更新日期:1983-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01799632
更新日期:1992-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01800221
更新日期:1992-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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journal_title:Journal of inherited metabolic disease
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doi:10.1007/s10545-012-9522-x
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:1983-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 临床试验,杂志文章
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:2004-01-01 00:00:00
abstract:INTRODUCTION:Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. METHOD:Cross-sectional analysis of data from the European Registry and ...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:2021-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
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更新日期:2016-11-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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abstract::Menkes disease (MNK) is a lethal, X-linked recessive disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. The incidence of MNK in Asia is not known. Most patients die by the age of 3 years if adequate treatment is not carried out. Early parenteral administration of ...
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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