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Enzyme Replacement Therapy

Schiffmann R, Ries M, Blankenship D et al.

Baylor Research Institute, Dallas, Texas, USA.

 Genet Med 2013;15:983–9.

Editor’s note: In this study of 73 men with Fabry disease (FD) who received enzyme replacement therapy with agalsidase alfa, the authors found that urinary levels of globotriaosylceramide (Gb3) were not predictive of changes in kidney function or left ventricular mass index. Urinary Gb3 remains an inaccurate biomarker of disease activity and treatment response in FD, although it still has a role in diagnosis (J Inherit Metab Dis 2007;30:68–78).

Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience.

Tukan I, Hadas-Halpern I, Altarescu G et al.

Shaare Zedek Medical Center, Jerusalem, Israel.

 Adv Hematol 2013;2013:151506.

Editor’s note: The beneficial effects of imiglucerase treatment on the clinical manifestations of Gaucher disease (GD) are well established. High-dose regimens (60 U/kg every 2 weeks) have been shown to result in greater and more rapid responses compared with lower doses (15 U/kg every 2 weeks; Am J Hematol 2008;83:890–5). However, the high cost of treatment and the global shortage of the drug mean that administration of the high dose is not always possible, particularly in poorer countries.

In 2004, Pastores et al. published a list of therapeutic parameters, including anemia, splenomegaly, skeletal parameters, and health-related quality of life, to assess patient response to imiglucerase treatment (Semin Hematol 2004;41[Suppl. 5]:4–14). The authors of the current retrospective analysis used these benchmarks to assess patient response to low-dose imiglucerase in their institution in Jerusalem, Israel. A total of 164 patients with GD (65 males) were enrolled and followed up for a period of 4 years. Children (age <14 years at treatment initiation and <18 years at the end of the study) received doses of 30 U/kg every 2 weeks and adults received doses of 15 U/kg every 2 weeks. Treatment was uninterrupted in all patients throughout the study period.

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