Details

Autor(en) / Beteiligte

• Mac Lochlainn, Dylan J.
• McKechnie, Douglas G.J.
• Mehta, Atul B.
• Hughes, Derralynn A.

Titel

The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa

Ist Teil von

• Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.154-158

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2018

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Fabry disease is a rare X-linked lysosomal storage disorder in which there is deficiency of alpha galactosidase A. Enzyme replacement therapy (ERT) is commercially available and has been demonstrated to improve cardiac and renal outcomes. Predictive scores, such as the Fabry International Prognostic Index (FIPI), have been developed to stratify disease severity; however, these have not been validated to predict outcomes in patients receiving ERT. We show that the FIPI score at baseline can predict outcomes in a group of patients on long-term ERT. •Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of the enzyme alpha galactosidase A•Replacement of alpha galactosidase A by intravenous infusion gained marketing approval in the EU in 2001•Predictive scores, such as the Fabry International Prognostic Index have been developed to stratify disease severity•This study analyses the 15 patients that participated in an initial clinical trial of agalsidase alpha•The FIPI score for time to the composite endpoint demonstrated a significant difference between the high and low-risk groups.