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.

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.

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

Patients with Gaucher disease