TY  - JOUR
A1  - Spada, Marco
A1  - Baron, Ralf
A1  - Elliott, Perry M.
A1  - Falissard, Bruno
A1  - Hilz, Max J.
A1  - Monserrat, Lorenzo
A1  - Tøndel, Camilla
A1  - Tylki-Szymańska, Anna
A1  - Wanner, Christoph
A1  - Germain, Dominique P.
T1  - 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
JF  - Molecular Genetics and Metabolism
N2  - 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
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.
KW  - Fabry disease
KW  - agalsidase alfa
KW  - agalsidase beta
KW  - systematic literature review
KW  - enzyme replacement therapy
KW  - paediatric patients
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-239287
VL  - 126
ER  -