Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
Gaucher Disease
About this trial
This is an observational trial for Gaucher Disease focused on measuring 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
Eligibility Criteria
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
Sites / Locations
- University of California - San Francisco
- University Research Foundation for Lysosomal Storage Diseases, Inc.
- Emory University Lysosomal Storage Disease Center
- National Institute of Neurological Disorders and Stroke, NIH
- New York University School of Medicine, Neurogenetics Department
- Lysosomal Disease Center, Cincinnati Children's Hospital
- Children's Hospital of Philadelphia