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Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00351156
Recruitment Status : Completed
First Posted : July 12, 2006
Last Update Posted : August 19, 2010
Information provided by:
Amicus Therapeutics

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.

Condition or disease Intervention/treatment
Gaucher Disease Procedure: Blood sample

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.

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Study Type : Observational
Enrollment : 50 participants
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
Study Start Date : July 2006
Actual Primary Completion Date : March 2007
Actual Study Completion Date : March 2007

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Gaucher disease

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00351156

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United States, California
University of California - San Francisco
San Francisco, California, United States, 94143
United States, Florida
University Research Foundation for Lysosomal Storage Diseases, Inc.
Coral Springs, Florida, United States, 33065
United States, Georgia
Emory University Lysosomal Storage Disease Center
Decatur, Georgia, United States, 30033
United States, Maryland
National Institute of Neurological Disorders and Stroke, NIH
Bethesda, Maryland, United States, 20892
United States, New York
New York University School of Medicine, Neurogenetics Department
New York, New York, United States, 10016
United States, Ohio
Lysosomal Disease Center, Cincinnati Children's Hospital
Cincinnati, Ohio, United States, 45229
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
Amicus Therapeutics
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Study Director: Karin Ludwig, M.D. Amicus Therapeutics, Inc.
Layout table for additonal information Identifier: NCT00351156    
Other Study ID Numbers: GAU-CL-001
First Posted: July 12, 2006    Key Record Dates
Last Update Posted: August 19, 2010
Last Verified: August 2010
Keywords provided by Amicus Therapeutics:
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
Genetic Diseases, Inborn
Additional relevant MeSH terms:
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Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders