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The objective of this study is to evaluate oxidative stress and/or inflammation in patients with Gaucher disease type I using a series of biomarkers and correlate with measurements of currently used diagnostic biomarkers.
We will determine oxidative stress and/or inflammation related biomarkers in whole blood and/or plasma in adult subjects with Gaucher disease. Fifteen milliliter blood sample will be collected during three independent visits over a period of approximately 3 months. These samples will be processed to separate plasma from red blood cells and frozen until assays are performed. Standardized immunoassay methods and LC/MS based methods will be adopted to assay a series of biomarkers in these samples. These data will be correlated with currently used diagnostic biomarkers.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Treatment naive GD1 | Type 1 Gaucher disease subjects who are naive to any treatment | ||
| Treated GD1 | Type 1 Gaucher disease who are stable on therapy (on the specific ERT and/or SRT and specific dose for at least 2 years) | ||
| Healthy Volunteers (No longer recruiting) | Age matched healthy controls. No new participants will be enrolled to this arm. |
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| Measure | Description | Time Frame |
|---|---|---|
| Change in Plasma C5a Concentration | Outcome will be reported as the change in plasma concentration of C5a (ng/ml) from baseline to 6 months in participants with Gaucher disease type 1 | 6 months |
| Change in Plasma Hepcidin Concentration | Outcome will be reported as the change in plasma concentration of hepcidin (ng/ml) from baseline to 6 months in participants with Gaucher disease type 1 | 6 months |
| Measure | Description | Time Frame |
|---|---|---|
| Change in Blood Glutathione Concentration | Outcome will be reported as the change in blood concentration of glutathione (umol/g) from baseline to 6 months in participants with Gaucher disease type 1 | 6 months |
| Change in Plasma Tumor Necrosis Factor (TNF)-alpha Concentration |
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Inclusion criteria:
Exclusion Criteria:
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Type 1 Gaucher disease subjects who are either naive to treatment or are stable on therapy (specific Enzyme Replacement Therapy (ERT) / Substrate Reduction Therapy (SRT) formulation at a specific dose) for at least 2 years.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Reena Kartha, PhD | Contact | 612-626-2436 | rvkartha@umn.edu |
| Name | Affiliation | Role |
|---|---|---|
| Reena Kartha, PhD | University of Minnesota | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Minnesota | Recruiting | Minneapolis | Minnesota | 55455 | United States |
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| ID | Term |
|---|---|
| D005776 | Gaucher Disease |
| D007249 | Inflammation |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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Blood samples
Outcome will be reported as the change in blood concentration of TNF-alpha (pg/ml) from baseline to 6 months in participants with Gaucher disease type 1 |
| 6 months |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |