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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.
Mol Genet Metab. 2019 03; 126(3):212-223.MG

Abstract

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.

Authors+Show Affiliations

Department of Paediatrics, University of Torino, Torino, Italy. Electronic address: marco.spada@unito.it.Division of Neurological Pain Research and Therapy, Department of Neurology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.Barts Heart Centre, University College London, London, United Kingdom.INSERM U1018, University of Paris-Sud, University of Paris-Descartes, Paris, France.Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.Health in Code, A Coruña, Spain.Department of Paediatrics, Haukeland University Hospital, Department of Clinical Medicine, University of Bergen, Bergen, Norway.Department of Paediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.Division of Nephrology, University Clinic, University of Würzburg, Würzburg, Germany.French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France.

Pub Type(s)

Journal Article
Systematic Review

Language

eng

PubMed ID

29785937

Citation

Spada, Marco, et al. "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." Molecular Genetics and Metabolism, vol. 126, no. 3, 2019, pp. 212-223.
Spada M, Baron R, Elliott PM, et al. 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. Mol Genet Metab. 2019;126(3):212-223.
Spada, M., Baron, R., Elliott, P. M., Falissard, B., Hilz, M. J., Monserrat, L., Tøndel, C., Tylki-Szymańska, A., Wanner, C., & Germain, D. P. (2019). 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. Molecular Genetics and Metabolism, 126(3), 212-223. https://doi.org/10.1016/j.ymgme.2018.04.007
Spada M, et al. 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. Mol Genet Metab. 2019;126(3):212-223. PubMed PMID: 29785937.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR 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. AU - Spada,Marco, AU - Baron,Ralf, AU - Elliott,Perry M, AU - Falissard,Bruno, AU - Hilz,Max J, AU - Monserrat,Lorenzo, AU - Tøndel,Camilla, AU - Tylki-Szymańska,Anna, AU - Wanner,Christoph, AU - Germain,Dominique P, Y1 - 2018/04/26/ PY - 2018/04/05/received PY - 2018/04/20/accepted PY - 2018/5/23/pubmed PY - 2019/11/5/medline PY - 2018/5/23/entrez KW - Agalsidase alfa KW - Agalsidase beta KW - Enzyme replacement therapy KW - Fabry disease KW - Paediatric patients KW - Systematic literature review SP - 212 EP - 223 JF - Molecular genetics and metabolism JO - Mol. Genet. Metab. VL - 126 IS - 3 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. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/29785937/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_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(18)30186-0 DB - PRIME DP - Unbound Medicine ER -