Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report

被引：0

作者：

Giugliani, Roberto ^{[1
,2
]}

Westwood, Stephanie ^{[3
]}

Wellhoefer, Hartmann ^{[4
]}

Schenk, Jorn ^{[4
]}

Gurevich, Andrey ^{[4
]}

Kampmann, Christoph ^{[5
]}

机构：

[1] Univ Fed Rio Grande do Sul, Med Genet Serv, HCPA, Rua Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, Brazil

[2] Univ Fed Rio Grande do Sul, Dept Genet, Rua Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS, Brazil

[3] Cognite, London, England

[4] Shire, Zug, Switzerland

[5] Univ Med Mainz, Mainz, Germany

来源：

GENETICS AND MOLECULAR BIOLOGY | 2018年 / 41卷 / 04期

关键词：

Agalsidase alfa; agalsidase beta; Anderson-Fabry disease; enzyme replacement therapy; AGALSIDASE-ALPHA; CLINICAL MANIFESTATIONS; OUTCOMES; COHORT; IMPACT;

D O I：

10.1590/1678-4685-GMB-2017-0345

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of less rigorous evidence. An analysis of cohort studies of enzyme replacement therapies for AFD published in 2017 by El Dib and coworkers made treatment recommendations that contradict previously published findings from RCTs and a systematic Cochrane review. Our commentary outlines concerns regarding selection criteria and statistical methods with their analysis.

引用

页码：790 / 793

页数：4

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