NCT00074958

A Study of Fabrazyme in Pediatric Patients With Fabry Disease

A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 16 (actual)
• Sponsor: Genzyme, a Sanofi Company · Industry
• Sex: All
• Age: 7 Years – 15 Years
• Healthy volunteers: Not accepted

Summary

People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-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 a-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 study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.

Conditions

• Fabry Disease

Interventions

Type	Name	Description
BIOLOGICAL	Fabrazyme (agalsidase beta)	1 mg/kg every 2 weeks

Timeline

• Start date: 2002-10-01
• Primary completion: 2005-05-01
• Completion: 2005-07-01
• First posted: 2003-12-25
• Last updated: 2015-04-02
• Results posted: 2009-06-16

Locations

7 sites across 4 countries: United States, France, Poland, United Kingdom