Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

Gaucher Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00351156
• Other study ID #: GAU-CL-001
• Status: Completed
• Phase: N/A
• First received: July 10, 2006
• Last updated: August 17, 2010
• Start date: July 2006
• Est. completion date: March 2007

Study information

• Verified date: August 2010
• Source: Amicus Therapeutics
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 50
• Est. completion date: March 2007
• Est. primary completion date: March 2007
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

1. Willing and able to provide written informed consent by subject or legal guardian

2. Male or female of any age

3. Confirmed diagnosis of Gaucher disease with known genotype

4. Clinically stable and either treatment naïve or on a stable dose of enzyme replacement therapy and/or substrate reduction therapy for at least 6 months prior to study entry

5. Available medical records for collection of retrospective clinical information

Exclusion Criteria:

1. Received any investigational product within 30 days prior to study entry

2. Other significant disease or be otherwise unsuitable for the study, as determined by the investigator

Study Design

N/A

Related Conditions & MeSH terms

• Gaucher Disease

Intervention

Procedure:
• Blood sample

Locations

Country	Name	City	State
United States	National Institute of Neurological Disorders and Stroke, NIH	Bethesda	Maryland
United States	Lysosomal Disease Center, Cincinnati Children's Hospital	Cincinnati	Ohio
United States	University Research Foundation for Lysosomal Storage Diseases, Inc.	Coral Springs	Florida
United States	Emory University Lysosomal Storage Disease Center	Decatur	Georgia
United States	New York University School of Medicine, Neurogenetics Department	New York	New York
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	University of California - San Francisco	San Francisco	California

Sponsors (1)

Lead Sponsor	Collaborator
Amicus Therapeutics

Country where clinical trial is conducted

United States,