A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease

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Abstract

Purpose:

Although Fabry disease is X linked and considered to affect primarily male hemizygotes, female heterozygotes may experience all the signs and symptoms of this metabolic disorder. This prospective, single-center, open-label, clinical trial was performed to evaluate the long-term response of female patients with Fabry disease to enzyme replacement therapy.

Methods:

Symptomatic women (average age = 47 years) enrolled in this 4-year study were treated with agalsidase alfa (Replagal®, Shire HGT, Inc.) at a dose of 0.2 mg/kg, every other week for 4 years (N = 36). Clinical and biochemical assessments were conducted at 12-month intervals.

Results:

The Mainz Severity Score Index, a measure of total disease burden, was significantly reduced after 12 months (P < 0.01) of treatment and continuously improved over 4 years. Brief Pain Inventory “pain at its worst” score was reduced from 4.6 ± 2.9 at baseline to 3.3 ± 2.9 after 12 months (P = 0.001) and remained reduced through 4 years. Mean left-ventricular mass decreased from 89.4 ± 29.3 g/m2.7 at baseline to 66.5 ± 29.3 g/m2.7 after 12 months (P < 0.001) and remained reduced through 4 years. Average kidney function (estimated glomerular filtration rate and proteinuria) remained constant during the study. No safety issues were identified.

Conclusions:

Long-term agalsidase alfa is effective and was well tolerated in women with Fabry disease.

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