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Updated: Feb 3, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report
Roberto Giugliani1, Stephanie Westwood2, Hartmann Wellhoefer3
1Medical Genetics Service, HCPA, and Department of Genetics, UFRGS, Porto Alegre, Brazil.
Abstract:
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.
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