NCT00430625

A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease

A Multicenter, Randomized, Double-Blind, Parallel Group, Two-Dose Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease

• Status: Completed
• Phase: Phase 3
• Study type: Interventional
• Enrollment: 25 (actual)
• Sponsor: Shire · Industry
• Sex: All
• Age: 2 Years
• Healthy volunteers: Not accepted

Summary

Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to this deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular engorgement, organomegaly, and organ system dysfunction. The purpose of this study is to evaluate the efficacy of every other week dosing of Gene-Activated® Human Glucocerebrosidase (GA-GCB, velaglucerase alfa) at doses of 45 and 60 U/kg in treatment-naïve patients with type 1 Gaucher disease.

Detailed description

Type 1 Gaucher disease, the most common form, accounts for more than 90% of all cases and does not involve the Central Nervous System (CNS). Typical manifestations of type 1 Gaucher disease include hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and decreased quality of life. Gene-Activated® human glucocerebrosidase (GA-GCB; velaglucerase alfa) is produced in a continuous human cell line using proprietary gene-activation technology and has an identical amino acid sequence to the naturally occurring human enzyme. Velaglucerase alfa contains terminal mannose residues that target the enzyme to the macrophages-the primary target cells in Gaucher disease. This study was designed to determine the efficacy, safety and pharmacokinetics of GA-GCB in men, women, and children with Type 1 Gaucher disease. Each patients duration of treatment was 12 months.

Conditions

• Gaucher Disease, Type 1

Interventions

Type	Name	Description
BIOLOGICAL	VPRIV ®,	Intravenous (IV) infusion, every other week via intravenous infusion for 12 months

Timeline

• Start date: 2007-02-15
• Primary completion: 2009-04-01
• Completion: 2009-04-01
• First posted: 2007-02-02
• Last updated: 2021-06-29
• Results posted: 2010-09-10

Locations

5 sites across 5 countries: Argentina, Israel, Paraguay, Russia, Tunisia