The Effect of Enzyme Replacement Therapy on Clinical Outcomes in Male Patients with Fabry Disease: A Systematic Literature Review by a European Panel of Experts

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2019 Feb 19

PMID 30775256

Citations 71

Authors

Dominique P Germain

Perry M Elliott

Bruno Falissard

Victor V Fomin

Max J Hilz

Ana Jovanovic

Ilkka Kantola

Ales Linhart

Renzo Mignani

Mehdi Namdar

Albina Nowak

Joao-Paulo Oliveira

Maurizio Pieroni

Miguel Viana-Baptista

Christoph Wanner

Marco Spada

Affiliations

Soon will be listed here.

Abstract

Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.

Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients.

Results: Clinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes.

Conclusions: ERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.

Citing Articles

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Ponleitner M, Gatterer C, Bsteh G, Rath J, Altmann P, Berger T Sci Rep. 2024; 14(1):23033.

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2024 Update of the TSOC Expert Consensus of Fabry Disease.

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