TY  - JOUR
A1  - Germain, Dominique P.
A1  - Arad, Michael
A1  - Burlina, Alessandro
A1  - Elliott, Perry M.
A1  - Falissard, Bruno
A1  - Feldt-Rasmussen, Ulla
A1  - Hilz, Max J.
A1  - Hughes, Derralynn A.
A1  - Ortiz, Alberto
A1  - Wanner, Christoph
A1  - Weidemann, Frank
A1  - Spada, Marco
T1  - The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease – A systematic literature review by a European panel of experts
T2  - Molecular Genetics and Metabolism
N2  - Background
Heterozygous females with Fabry disease have a wide range of clinical phenotypes depending on the nature of their mutation and their X-chromosome inactivation pattern; it is therefore important to examine outcomes of enzyme replacement therapy (ERT) in the female patient population specifically. This paper presents the findings of a systematic literature review of treatment outcomes with ERT in adult female patients.

Methods
A comprehensive systematic literature review was conducted through January 2017 to retrieve published papers with original data on ERT in the treatment of Fabry disease. The review included all original articles that presented ERT outcomes data on patients with Fabry disease, irrespective of the study type.

Results
Clinical evidence for the efficacy of ERT in female patients was available from 67 publications including six clinical trial publications, and indicates significant reductions in plasma and urine globotriaosylceramide (GL-3) accumulation (in female patients with elevated pre-treatment levels) and improvements in cardiac parameters and quality of life (QoL). To date, data are insufficient to conclude on the effects of ERT on the nervous system, gastrointestinal manifestations, and pain in female patients with Fabry disease.

Conclusions
This review of available literature data demonstrates that ERT in adult female patients with Fabry disease has a beneficial effect on GL-3 levels and cardiac outcomes. The current evidence also suggests that ERT may improve QoL in this patient population, though further studies are needed to examine these results.
KW  - Fabry disease
KW  - agalsidase alfa
KW  - agalsidase beta
KW  - systematic literature review
KW  - enzyme replacement therapy
KW  - adult female patients
Y1  - 2019
UR  - https://opus.bibliothek.uni-wuerzburg.de/opus4-wuerzburg/frontdoor/index/index/docId/23296
UR  - https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-232963
VL  - 126
ER  -