Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease

Completed

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.

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.

Recruitment & Eligibility

Inclusion Criteria

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

Exclusion Criteria

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

Primary Outcome Measures

Name	Time	Method

Secondary Outcome Measures

Name	Time	Method

Locations (7): University Research Foundation for Lysosomal Storage Diseases, Inc.
🇺🇸
Coral Springs, Florida, United States
National Institute of Neurological Disorders and Stroke, NIH
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Bethesda, Maryland, United States
New York University School of Medicine, Neurogenetics Department
🇺🇸
New York, New York, United States
University of California - San Francisco
🇺🇸
San Francisco, California, United States
Emory University Lysosomal Storage Disease Center
🇺🇸
Decatur, Georgia, United States
Lysosomal Disease Center, Cincinnati Children's Hospital
🇺🇸
Cincinnati, Ohio, United States
Children's Hospital of Philadelphia
🇺🇸
Philadelphia, Pennsylvania, United States