Gaucher DiseaseNCT01274208
Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C
An observational study of Gaucher Disease and Hepatitis C, run by Shaare Zedek Medical Center at 2 sites in Israel.
Trial summary
Study objectives: Investigate the anti-HCV response in patients with Gaucher disease(GD) Define the potential role of high levels of Glucocerebroside in the immune system Study hypothesis: High levels of Glucocerebroside can be used as a tool in the antiviral treatment of hepatitis C by potentiating the immune… Read more about this study
- Who is it for?
- Ages 18 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Gaucher Disease, Hepatitis C
- How many people
- 80 participants
- Where
- 2 sitesIsrael
- Study dates
- Jan 2011to Apr 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients with Gaucher Disease were recruited from the Sha'are Zedek Gaucher disease clinic, a national referral center for the disease.
Who may be able to join
- Patients with Gaucher disease
- Patients with hepatitis C without Gaucher disease
- Individuals or patients without Gaucher disease and hepatitis C
- Individuals or patients who signed an approval for the research
- Men and women 18< years of age , pregnant women
Who cannot join
- Inabillity to give an approval for the research
- Acute liver disease that can alter the lab results , such as: Rt. congestive heart failure
- severe infection ,inflammation, medication such as : Statins , Isoniazid ,
- Amiodarone
- Patients who received treatment for hepatitis C such as: Interferon ,
- Pegylated interferon , Ribavirin
- -
Trial locations and contacts
2 sites in 1 country.
Israel2 sites, 2 recruiting
- Recruiting
Shaare Zedek , Medical Center
Jerusalem, 91120
Melamud, dr.bernardo@gmail.com
zimran, Prof., azimran@gmail.com
- Recruiting
Hadassah Medical Center
Jerusalem
Yaron Ilan, Prof., 972 2 6778231, ilan@hadassah.org.il
Yaron Ilan, Prof.
About this study
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?
Study objectives:
- Investigate the anti-HCV response in patients with Gaucher disease(GD)
- Define the potential role of high levels of Glucocerebroside in the immune system
Study hypothesis:
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
Read the detailed description
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.
Study importance:
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.
Statistical Analysis:
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.
- Conditions
- Gaucher Disease, Hepatitis C
- Keywords
- Gaucher disease, Hepatitis C , Glucocerebroside immunity
- Medical subject headings
- Gaucher Disease, Hepatitis C
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Gaucher Disease with Hepatitis C | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Gaucher patients' immune system provide enhanced immunity against hepatitis c virus
Measured: 6 months
Secondary outcomes (1)
the role Glucocerebroside level have by enhanced immunity in patients with Gaucher disease
Measured: 30 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jan 2011 (estimated)
- Study startJan 2011
- Primary completionMar 2016 (estimated)
- Study completionApr 2016 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Shaare Zedek Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ari Zimran, Shaare Zedek Medical Center
- Investigators
- Bernardo Melamud, Dr., Principal investigator, Gaucher Clinic , Shaare zedek Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01274208
- Sponsor's protocol ID
- SZMC- 89/10
- Status last verified
- Nov 2014
- First submitted
- 10 Jan 2011
- Last updated
- 19 Nov 2014
- Results posted
- No
- Data monitoring committee
- No
Publications
Elstein D, Abrahamov A, Hadas-Halpern I, Zimran A. Gaucher's disease. Lancet. 2001 Jul 28;358(9278):324-7. doi: 10.1016/S0140-6736(01)05490-3. No abstract available.
PubMed 11498237Butters TD. Gaucher disease. Curr Opin Chem Biol. 2007 Aug;11(4):412-8. doi: 10.1016/j.cbpa.2007.05.035. Epub 2007 Jul 23.
PubMed 17644022Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl. 2006 Apr;95(451):103-9. doi: 10.1111/j.1651-2227.2006.tb02398.x.
PubMed 16720474Slatkin M. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet. 2004 Aug;75(2):282-93. doi: 10.1086/423146. Epub 2004 Jun 18.
PubMed 15208782Beutler E. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5384-90. doi: 10.1073/pnas.90.12.5384.
PubMed 8516282Zigmond E LG, Pappo O, Zangen S, Levy Sklair M, Hemed N, Rabbani E, Itamar R, Ilan Y, Margalit M. Treatment of non-alcoholic steatohepatitis by B-glucosylceramide: A phase I/II clinical study. Hepatology 2006;44 .180A, .
Study at a glance
From the registry record, last updated by the sponsor on 19 Nov 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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?
- ClinicalTrials.gov ID
- NCT01274208
- Acronym / sponsor ID
- SZMC- 89/10
- Conditions
- Gaucher Disease, Hepatitis C
- Keywords
- Gaucher disease, Hepatitis C , Glucocerebroside immunity
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Shaare Zedek Medical CenterUniversity, hospital or other
- Study start
- Jan 2011
- Primary completion
- Mar 2016 (estimated)
- Study completion
- Apr 2016 (estimated)
- First posted
- 11 Jan 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Study objectives:
- Investigate the anti-HCV response in patients with Gaucher disease(GD)
- Define the potential role of high levels of Glucocerebroside in the immune system
Study hypothesis:
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
Detailed description
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.
Study importance:
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.
Statistical Analysis:
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Gaucher Disease with Hepatitis C | – | – |
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with Gaucher Disease were recruited from the Sha'are Zedek Gaucher disease clinic, a national referral center for the disease.
Key inclusion criteria (5 listed)
- Patients with Gaucher disease
- Patients with hepatitis C without Gaucher disease
- Individuals or patients without Gaucher disease and hepatitis C
- Individuals or patients who signed an approval for the research
- Men and women 18< years of age , pregnant women
Key exclusion criteria (7 listed)
- Inabillity to give an approval for the research
- Acute liver disease that can alter the lab results , such as: Rt. congestive heart failure
- severe infection ,inflammation, medication such as : Statins , Isoniazid ,
- Amiodarone
- Patients who received treatment for hepatitis C such as: Interferon ,
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Gaucher patients' immune system provide enhanced immunity against hepatitis c virus
Time frame: 6 months
1 secondary outcome
the role Glucocerebroside level have by enhanced immunity in patients with Gaucher disease
Time frame: 30 days
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Nov 2014.
- Background: PubMed 11498237Elstein D, Abrahamov A, Hadas-Halpern I, Zimran A. Gaucher's disease. Lancet. 2001 Jul 28;358(9278):324-7. doi: 10.1016/S0140-6736(01)05490-3. No abstract available.
- Background: PubMed 17644022Butters TD. Gaucher disease. Curr Opin Chem Biol. 2007 Aug;11(4):412-8. doi: 10.1016/j.cbpa.2007.05.035. Epub 2007 Jul 23.
- Background: PubMed 16720474Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl. 2006 Apr;95(451):103-9. doi: 10.1111/j.1651-2227.2006.tb02398.x.
- Background: PubMed 15208782Slatkin M. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet. 2004 Aug;75(2):282-93. doi: 10.1086/423146. Epub 2004 Jun 18.
- Background: PubMed 8516282Beutler E. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5384-90. doi: 10.1073/pnas.90.12.5384.
- Results publicationZigmond E LG, Pappo O, Zangen S, Levy Sklair M, Hemed N, Rabbani E, Itamar R, Ilan Y, Margalit M. Treatment of non-alcoholic steatohepatitis by B-glucosylceramide: A phase I/II clinical study. Hepatology 2006;44 .180A, .
- Shaare Zedek Medical Center siteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Bernardo Melamud, Dr. principal investigator
Gaucher Clinic , Shaare zedek Hospital
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease and Hepatitis C, run by Shaare Zedek Medical Center at 2 sites in Israel.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 19 Nov 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Israel. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Bernardo Melamud, Dr. (972-508685845, dr.bernardo@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gaucher patients' immune system provide enhanced immunity against hepatitis c virus (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01274208, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Nov 2014.