Status:
COMPLETED
A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease
Lead Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Gaucher Disease
Eligibility:
All Genders
Brief Summary
Gaucher disease is a lysosomal storage disorder resulting from a deficiency in the key enzyme b-glucocerebrosidase (GCase). This enzyme is responsible for breaking down a specialized type of fat molec...
Detailed Description
Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the gene encoding acid-Beta-glucosidase (Beta-glucocerebrosidase \[GCase\]) (Gba), the lysosomal enzyme that catalyzes ...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- To be eligible for the study, subjects must fulfill all of the following inclusion criteria:
- Willing and able to provide written informed consent by subject or legal guardian.
- Male or female of any age.
- Confirmed diagnosis of GD with known genotype.
- Clinically stable and either treatment naive or on a stable dose of ERT and/or SRT for at least 6 months prior to study entry.
- Available medical records for collection of retrospective clinical information.
- EXCLUSION CRITERIA:
- To be eligible for the study, subjects must not fulfill any of the following 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.
Exclusion
Key Trial Info
Start Date :
April 19 2007
Trial Type :
OBSERVATIONAL
End Date :
March 3 2008
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT00465062
Start Date
April 19 2007
End Date
March 3 2008
Last Update
July 2 2017
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892