NCT00351156

Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 50 (planned)
• Sponsor: Amicus Therapeutics · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different between people who have Gaucher disease and people who do not have Gaucher disease. This information may be useful in the future to help find new treatments for Gaucher disease.

Detailed description

This study is designed to evaluate the ex vivo response to pharmacological chaperone therapy by testing blood samples from previously treated and untreated patients with Gaucher disease. The study will include patients with non-neuropathic Gaucher disease (type I) and neuropathic Gaucher disease (types II and/or III). All subjects will participate in one study visit. Clinical information will be collected retrospectively from medical records. Information collected will include Gaucher disease diagnosis and history, medical history, family history, assessments of clinical severity, and genotype. A blood sample will be collected and various cells will be isolated for laboratory testing and research.

Conditions

• Gaucher Disease

Interventions

Type	Name	Description
PROCEDURE	Blood sample

Timeline

• Start date: 2006-07-01
• Primary completion: 2007-03-01
• Completion: 2007-03-01
• First posted: 2006-07-12
• Last updated: 2010-08-19

Locations

7 sites across 1 country: United States