Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease
Status:
Unknown status
Trial end date:
2009-06-01
Target enrollment:
Participant gender:
Summary
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.