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Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

This study has been completed.
Information provided by:
Amicus Therapeutics Identifier:
First received: July 10, 2006
Last updated: August 17, 2010
Last verified: August 2010
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 Intervention
Gaucher Disease
Procedure: Blood sample

Study Type: Observational
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

Resource links provided by NLM:

Further study details as provided by Amicus Therapeutics:

Biospecimen Retention:   Samples With DNA

Estimated Enrollment: 50
Study Start Date: July 2006
Study Completion Date: March 2007
Primary Completion Date: March 2007 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   Child, Adult, Senior
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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00351156

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
Study Director: Karin Ludwig, M.D. Amicus Therapeutics, Inc.
  More Information Identifier: NCT00351156     History of Changes
Other Study ID Numbers: GAU-CL-001
Study First Received: July 10, 2006
Last Updated: August 17, 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
Metabolic Diseases
Genetic Diseases, Inborn
Metabolism, Inborn Errors

Additional relevant MeSH terms:
Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors processed this record on April 21, 2017