NCT00196716

A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

A Multicenter, Open-label Study of Low Dose Maintenance Treatment of Fabrazyme (Recombinant Human Alpha-Galactosidase A (R-h Alpha-GAL)) Replacement Therapy in Patients With Fabry Disease

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 21 (actual)
• Sponsor: Genzyme, a Sanofi Company · Industry
• Sex: Male
• Age: 16 Years
• Healthy volunteers: Not accepted

Summary

People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because alpha-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This trial is designed to evaluate the efficacy of a lower dose of Fabrazyme in patients who initially received 1.0 mg/kg every 2 weeks of Fabrazyme by investigating if the achieved clearance of glycosphingolipid deposits in the vascular endothelium of the kidney can be maintained at a lower dose.

Conditions

• Fabry Disease

Interventions

Type	Name	Description
BIOLOGICAL	Fabrazyme (agalsidase beta)	1.0 mg/kg Fabrazyme every two weeks for approximately six months followed by 0.3 mg/kg Fabrazyme every two weeks for approximately 18 months

Timeline

• Start date: 2003-06-01
• Primary completion: 2006-04-01
• Completion: 2007-03-01
• First posted: 2005-09-20
• Last updated: 2015-04-03
• Results posted: 2009-04-02

Locations

4 sites across 4 countries: Czechia, Estonia, Poland, Slovakia