The effect of enzyme replacement therapy on clinical outcomes in paediatric 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-239287
- Background
Fabry disease is caused by a deficiency of the lysosomal enzyme α-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3). The disease can manifest early during childhood and adolescence. Enzyme replacement therapy (ERT) with recombinant human α-galactosidase is the first specific treatment for Fabry disease and has been available in Europe since 2001. This paper presents the findings of a systematic literature review of clinical outcomes with ERT in paediatric patients with Fabry disease.
Methods
ABackground
Fabry disease is caused by a deficiency of the lysosomal enzyme α-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3). The disease can manifest early during childhood and adolescence. Enzyme replacement therapy (ERT) with recombinant human α-galactosidase is the first specific treatment for Fabry disease and has been available in Europe since 2001. This paper presents the findings of a systematic literature review of clinical outcomes with ERT in paediatric patients with Fabry disease.
Methods
A comprehensive systematic review of published literature on ERT in Fabry disease was conducted in January 2017. The literature analysis included all original articles reporting outcomes of ERT in paediatric patients.
Results
Treatment-related outcomes in the paediatric population were reported in six publications derived from open-label clinical trials and in 10 publications derived from observational or registry-based studies. ERT was shown to significantly reduce plasma and urine GL-3 levels in paediatric patients with Fabry disease. The effect of ERT on GL-3 clearance from renal podocytes appeared to be agalsidase dose-dependent. ERT relieved pain and improved gastrointestinal symptoms and quality of life.
Conclusions
Based on the published literature, the use of ERT in paediatric patients can significantly clear GL-3 accumulation, ameliorate the early symptoms of Fabry disease, and improve quality of life. Treatment with ERT in paediatric patients with Fabry disease may be important to prevent further disease progression and overt organ damage.…
Author: | Marco Spada, Ralf Baron, Perry M. Elliott, Bruno Falissard, Max J. Hilz, Lorenzo Monserrat, Camilla Tøndel, Anna Tylki-Szymańska, Christoph Wanner, Dominique P. Germain |
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URN: | urn:nbn:de:bvb:20-opus-239287 |
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: | 212-223 |
Source: | Molecular Genetics and Metabolism (2019) 126:212-223. https://doi.org/10.1016/j.ymgme.2018.04.007 |
DOI: | https://doi.org/10.1016/j.ymgme.2018.04.007 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | Fabry disease; agalsidase alfa; agalsidase beta; enzyme replacement therapy; paediatric patients; systematic literature review |
Release Date: | 2024/08/22 |
Licence (German): | ![]() |