Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C
Recruitment status was: Recruiting
- Investigate the anti-HCV response in patients with Gaucher disease(GD)
- Define the potential role of high levels of Glucocerebroside in the immune system
High levels of Glucocerebroside can be used as a tool in the antiviral treatment of hepatitis C by potentiating the immune response of natural killer T cells and dendritic cells
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Enhanced HCV Nonstructural Protein 3 (NS3) -Specific T Cell Proliferation,Interferon γ (IFNγ) and Interleukin-10 (IL-10) Secreting Clones, and Peripheral Blood Natural Killers T Cells ( NKT Cells) in Patients With Type I Gaucher Disease Infected With HCV : An Advantage in Anti Hepatitis Immunity?|
- Gaucher patients' immune system provide enhanced immunity against hepatitis c virus [ Time Frame: 6 months ] [ Designated as safety issue: No ]
- the role Glucocerebroside level have by enhanced immunity in patients with Gaucher disease [ Time Frame: 30 days ] [ Designated as safety issue: No ]
|Study Start Date:||January 2011|
|Estimated Study Completion Date:||April 2016|
|Estimated Primary Completion Date:||March 2016 (Final data collection date for primary outcome measure)|
|Gaucher Disease with Hepatitis C|
Gaucher disease is the most common glycolipid storage disorder, caused by reduced activity of the lysosomal enzyme glucocerebrosidase, which leads to the accumulation of the substrate, glucocerebroside (GC), in the cells of the reticulo-endothelial system.
One of the hallmarks of GD is its great phenotypic heterogeneity with variable presentations and symptoms, beginning with a lethal variant of infants dying at or near birth with hydrops fetalis and ichthyoids at one extreme and totally asymptomatic individuals without any physical or laboratory abnormalities at the other extreme.
This autosomal recessive disease is pan-ethnic, but it is especially prevalent among Ashkenazi Jews. From over 300 different mutations reported in the glucocerebrosidase gene, five account for 98% of the disease-producing alleles. Of these mutations, N370S (or 1226G) occurs in 1 out of 17 Ashkenazi individuals, leading to a disease frequency of 1:850 in this ethnic group.
The high prevalence of more than a single mutation among Ashkenazi Jews and the existence of two additional rare inherited lysosomal glycolipid storage diseases, Tay Sachs and Nieman Pick, at a higher prevalence within the same ethnic group is believed to be caused by selective advantage.
Available genetic data are consistent with a founder effect(4) whereas the nature of such an advantage has not been identified.
The aim of this study was to investigate the anti-HCV immune response in patients with GD in an attempt to define the potential role of high levels of GC in the immune system and antiviral immunity.
The host metabolic background exerts a profound effect on antiviral immunity, which may influence the clinical course of chronic HCV infection.
The accumulation of GC in patients with GD may provide a selective evolutionary advantage to these patients.
Glucocerebroside was recently tested in human trials and shown to be effective in altering NKT- dependent metabolic pathways, insulin resistance, and associated liver injury.
The present study examine the capability of Glucocerebroside to be be used as a tool in the antiviral treatment of hepatitis C by potentiating the immune response of natural killer T cells and dendritic cells.
Data are presented as the mean ± standard deviation (SD). The Kruskal Wallis non-parametric ANOVA test was used to identify differences between the study groups.
The student t-test and non-parametric Mann-Whitney test were used to compare quantitative variables between the study groups as appropriate; P <0.05 was considered to be significant.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01274208
|Shaare Zedek , Medical Center|
|Jerusalem, Israel, 91120|
|Hadassah Medical Center|
|Principal Investigator:||Bernardo Melamud, Dr.||Gaucher Clinic , Shaare zedek Hospital|