Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease

Overview

Fabry disease (OMIM 301500) is an X-linked inborn error of sphingolipid metabolism resulting from the deficiency of the lysosomal enzyme alpha-galactosidase A. Heterozygous females for Fabry disease may be symptomatic with cardiac, renal or cerebrovascular involvement. Clearance of Gb3 and stabilization of renal function has been demonstrated in male patients treated with agalsidase beta (FABRAZYME). In contrast, no randomized, controlled study of the efficacy of recombinant alpha-galactosidase A has been reported in heterozygotes for Fabry disease.

The primary objective is to evaluate cardiac left ventricular mass (measured with echocardiography by unique investigator) in females over 15 years of age affected with Fabry disease receiving 70 mg of agalsidase beta every other week, as compared with an untreated controlled group matched for gender and age. The secondary objectives include evaluation of : * left ventricular posterior wall thickness (echocardiography) * interventricular septum thickness (echocardiography) * tissue doppler imaging (myocardial function) * EKG * creatinaemia * serum cystatin C level * urinary protein/creatinine ratio * microalbuminuria * Gb3 urinary levels Evaluation of tolerance and safety with : * Home therapy infusions follow up * Vitals * Physical examination * Adverse events * Antibodies levels

Conditions