Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

NCT00351156 | Completed

• 1 other identifier: GAU-CL-001
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 7

Brief 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.

Conditions

Gaucher Disease

Keywords

Gaucher Disease; Gaucher Disease, Type 1; Gaucher Disease, Type 2; Gaucher Disease, Type 3; Neuronopathic Gaucher Disease; Non-Neuronopathic Gaucher Disease; Lysosomal Storage Disease; Metabolism, Inborn Errors; Metabolic Diseases; Sphingolipidoses; Genetic Diseases, Inborn

Interventions

Blood sample PROCEDURE

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Gaucher disease

You may qualify if:

• Willing and able to provide written informed consent by subject or legal guardian
• Male or female of any age
• Confirmed diagnosis of Gaucher disease with known genotype
• 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
• Available medical records for collection of retrospective clinical information

You may not qualify if:

• Received any investigational product within 30 days prior to study entry
• Other significant disease or be otherwise unsuitable for the study, as determined by the investigator

Sponsors & Collaborators

• Amicus Therapeutics: lead

Study Sites (7)

University of California - San Francisco

San Francisco, California, 94143, United States

Location

University Research Foundation for Lysosomal Storage Diseases, Inc.

Coral Springs, Florida, 33065, United States

Location

Emory University Lysosomal Storage Disease Center

Decatur, Georgia, 30033, United States

Location

National Institute of Neurological Disorders and Stroke, NIH

Bethesda, Maryland, 20892, United States

Location

New York University School of Medicine, Neurogenetics Department

New York, New York, 10016, United States

Location

Lysosomal Disease Center, Cincinnati Children's Hospital

Cincinnati, Ohio, 45229, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Gaucher Disease; Lysosomal Storage Diseases; Metabolism, Inborn Errors; Metabolic Diseases; Sphingolipidoses; Genetic Diseases, Inborn

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Karin Ludwig, M.D.

  Amicus Therapeutics, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: July 10, 2006
• First Posted: July 12, 2006
• Study Start: July 1, 2006
• Primary Completion: March 1, 2007
• Study Completion: March 1, 2007
• Last Updated: August 19, 2010

Record last verified: 2010-08

Locations

US (7)