TY - JOUR
T1 - The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease
T2 - A systematic literature review by a European panel of experts
AU - Germain, Dominique P.
AU - Elliott, Perry M.
AU - Falissard, Bruno
AU - Fomin, Victor V.
AU - Hilz, Max J.
AU - Jovanovic, Ana
AU - Kantola, Ilkka
AU - Linhart, Aleš
AU - Mignani, Renzo
AU - Namdar, Mehdi
AU - Nowak, Albina
AU - Oliveira, João Paulo
AU - Pieroni, Maurizio
AU - Viana-Baptista, Miguel
AU - Wanner, Christoph
AU - Spada, Marco
PY - 2019/6/1
Y1 - 2019/6/1
N2 - Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations. Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients. Results: Clinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes. Conclusions: ERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.
AB - Background: Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations. Methods: We conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients. Results: Clinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes. Conclusions: ERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.
KW - adult male patients
KW - agalsidase alfa
KW - agalsidase beta
KW - enzyme replacement therapy
KW - Fabry disease
KW - systematic literature review
UR - http://www.scopus.com/inward/record.url?scp=85061057281&partnerID=8YFLogxK
U2 - 10.1016/j.ymgmr.2019.100454
DO - 10.1016/j.ymgmr.2019.100454
M3 - Review article
C2 - 30775256
AN - SCOPUS:85061057281
VL - 19
JO - Molecular Genetics and Metabolism Reports
JF - Molecular Genetics and Metabolism Reports
SN - 2214-4269
M1 - 100454
ER -
