Abstract
BackgroundFabry 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. MethodsA 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. ResultsTreatment-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. ConclusionsBased 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.
Highlights
Fabry disease (OMIM #301500), an X-linked lysosomal storage disorder, is caused by mutations in the GLA gene (OMIM #300644; HGNC 4296) encoding the lysosomal enzyme α-galactosidase resulting in the accumulation of glycosphingolipids, such as globotriaosylceramide (GL-3) and globotriaosylsphingosine, in a wide range of cell types [1]
Regarding GL-3 values, if GL-3 was reduced by Enzyme replacement therapy (ERT) treatment, the values are reported as described in the publication
A total of 34 publications included in the systematic literature analysis reported ERT outcomes data in paediatric patients (Table 1)
Summary
Fabry disease (OMIM #301500), an X-linked lysosomal storage disorder, is caused by mutations in the GLA gene (OMIM #300644; HGNC 4296) encoding the lysosomal enzyme α-galactosidase resulting in the accumulation of glycosphingolipids, such as globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-GL-3), in a wide range of cell types [1]. Two forms of human α-galactosidase enzyme replacement therapy (ERT) are available for the treatment of Fabry disease: agalsidase alfa (Replagal®), administered at a dose of 0.2 mg/kg every other week (EOW); and agalsidase beta (Fabrazyme®) administered at a dose of 1.0 mg/kg EOW. 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. The literature analysis included all original articles reporting outcomes of ERT in paediatric patients. 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
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
