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
Please always quote using this URN: urn:nbn:de:bvb:20-opus-232963
- 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 publishedBackground
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.…
Author: | Dominique P. Germain, Michael Arad, Alessandro Burlina, Perry M. Elliott, Bruno Falissard, Ulla Feldt-Rasmussen, Max J. Hilz, Derralynn A. Hughes, Alberto Ortiz, Christoph Wanner, Frank Weidemann, Marco Spada |
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URN: | urn:nbn:de:bvb:20-opus-232963 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Medizinische Klinik und Poliklinik I |
Language: | English |
Parent Title (English): | Molecular Genetics and Metabolism |
Year of Completion: | 2019 |
Volume: | 126 |
Pagenumber: | 224-235 |
Source: | Molecular Genetics and Metabolism (2019) 126:224-235. https://doi.org/10.1016/j.ymgme.2018.09.007 |
DOI: | https://doi.org/10.1016/j.ymgme.2018.09.007 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | Fabry disease; adult female patients; agalsidase alfa; agalsidase beta; enzyme replacement therapy; systematic literature review |
Release Date: | 2024/08/22 |
Licence (German): | ![]() |