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

  • participants needed
  • sponsor
    Assistance Publique - Hôpitaux de Paris
Updated on 22 January 2022
renal function
agalsidase beta
agalsidase alfa
gla gene


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

Condition Fabry Disease
Treatment recombinant alpha-galactosidase A
Clinical Study IdentifierNCT00487630
SponsorAssistance Publique - Hôpitaux de Paris
Last Modified on22 January 2022

Similar trials to consider


Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 



Reply by • Private

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note