SNPMiner Trials (Home Page)
Report for Mutation V158F
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 3 clinical trials
Clinical Trials
1 Association of FC-Gamma Receptor Genotypes With Response and Clinical Benefit With Addition of Rituximab to CHOP Chemotherapy in Patients With Follicular Lymphoma (FL)
RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer. It may also help doctors predict how patients will respond to treatment. PURPOSE: This research study is looking at blood and tissue samples from patients with follicular lymphoma treated with rituximab, cyclophosphamide, doxorubicin hydrochloride, vincristine, and prednisone.
NCT00933127 Lymphoma Genetic: DNA analysis Genetic: polymerase chain reaction Genetic: polymorphism analysis Other: laboratory biomarker analysis MeSH:Lymphoma Lymphoma, Follicular
HPO:Lymphoma
OUTLINE: Genomic DNA extracted from paired samples of serum and formalin-fixed paraffin-embedded tissue is analyzed for R131H polymorphism in Fcγ receptor IIa and V158F polymorphism in Fcγ receptor IIIa by TaqMan-based assay. --- R131H --- --- V158F ---
Primary Outcomes
Measure: Association of Fc-gamma (Fcγ) receptor genotypes with overall and/or progression-free survival and clinical response Time: retrospectivelyMeasure: Novel polymorphisms in Fcγ receptors for predictive and prognostic significance Time: retrospectively
2 The Immune Response Following Vaccination in Multiple Myeloma Patients: A Prospective Pilot Study
This study will collect blood samples from healthy volunteers and volunteers with multiple myeloma who are going to get the seasonal flu, pneumonia, haemophilus influenzae B (HIB), and/or meningococcus vaccines. The main goal of the study is to start to identify differences in the immune response between multiple myeloma patients and people who don't have multiple myeloma. We hope this will provide important information about the best way and time to vaccinate multiple myeloma patients to flu, pneumonia, haemophilus influenzae B (HIB), and/or meningococcus .
NCT02294487 Multiple Myeloma Myeloma, Multiple Myeloma-Multiple MeSH:Multiple Myeloma Neoplasms, Plasma Cell
HPO:Multiple myeloma
However, therapeutic antibodies for the treatment of cancer such as rituximab have demonstrated that there is a survival advantage of individuals that have the FcyRIIa (H131R) and FcyRIII (V158F) polymorphisms. --- H131R --- --- V158F ---
Primary Outcomes
Description: Evaluate composition of T cells, B cells, NK cell and monocyte populations to identify immune suppression. Multiparameter flow cytometer will be used to evaluate T cells, B cells, and NK cell and monocyte populations using differentiation markers for the cell populations in subjects at five time points, baseline to 24 weeks.
Measure: Evaluate composition of T cells, B cells, NK cell and monocyte populations from pre-vaccination though 24 weeks post-vaccination Time: 24 weeksDescription: Measure of interferon -gamma in activated T cells to evaluate T cell function. An intracellular interferon-gamma assay will be performed by incubating peripheral blood mononuclear cells overnight with an influenza antigen and evaluating the level of an intracellular interferon-y assay will be performed by incubating peripheral blood mononuclear cells overnight with an influenza antigen and evaluating the level of interferon -gamma in activated T cells. Vaccination should increase numbers of T cells producing interferon -gamma. Vaccination should increase numbers of T cells producing interferon -gamma.This evaluation will be done using blood drawn at 5 time points, including pre-vaccination and post vaccination at 2, 4, 12 and 24 weeks.
Measure: Measure of interferon -gamma in activated T cells from pre-vaccination though 24 weeks post-vaccination Time: 24 weeksDescription: Measure of antigen specific B cells to determine B cell responsiveness to the pneumococcal vaccine. Polysaccharides from various pathogenic strains will be conjugated to a fluorescent molecule such as fluorescein isothiocyanate (FITC). These constructs will be combined with B cell markers to evaluate pneumococcal specific B cells pre- and post-vaccination. If vaccination is successful, there should be an increase in antigen specific B cells.
Measure: Measure of antigen specific B cells from pre-vaccination though 24 weeks post-vaccination Time: 24 weeksDescription: Total PnC-IgG levels and IgG2 levels will be determined by EIA using commercially available, FDA cleared kits (The Binding Site). PnC-IgG1 and IgG3 levels will be measured by ELISA using commercially available kits that we will modify in-house with optimized reagents for detection of IgG1 and IgG3 isotopes, standardized against a reference serum. This evaluation will be done using blood drawn at 5 time points, including pre-vaccination and post vaccination at 2, 4, 12 and 24 weeks.
Measure: Total PnC-IgG, IgG2, PnC-IgG1 and IgG3 levels from pre-vaccination though 24 weeks post-vaccination Time: 24 weeksDescription: Effectiveness of pneumococcal vaccines has an association with FcyRIIa that is expressed predominantly on phagocytic cells such as neutrophils and macrophages. There are no reports that suggest polymorphisms in FcyRIII are associated with improved efficacy of pneumococcal vaccines. However, therapeutic antibodies for the treatment of cancer such as rituximab have demonstrated that there is a survival advantage of individuals that have the FcyRIIa (H131R) and FcyRIII (V158F) polymorphisms. By evaluating both FcyRIIa and FcyRIII we can position ourselves to evaluate the use of vaccines and therapeutics in cancer.
Measure: Evaluate both FcyRIIa and FcyRIII polymorphisms Time: up to 24 weeksSecondary Outcomes
Description: Long term outcomes data will be collected from the medical record of MM patients in order to access the impact of vaccination on health outcomes.
Measure: Assess outcomes of MM patients after vaccination Time: up to 10 years3 Association of FC Gamma RIIIA Polymorphism and Thrombopoietin (THPO) Expression With Response to TPO Agonists in Refractory ITP and the Impact of Therapy on B and T Cells Subsets in the Patients With Mutated Genotypes
Idiopathic thrombocytopenic purpura (ITP) is an autoimmune disease characterized by antibody-mediated platelet destruction. The complex pathogenesis of ITP with multiple challenges to immune system in terms of genetic predisposition, infection, responsiveness to immunosuppressive therapy (IST) and inhibition of platelet production has proven the diversity of constraints in diagnosing and treating ITP. Thrombopoietin receptor agonist (Eltrombopag) is specifically indicated for the treatment of thrombocytopenia in patients with chronic immune (idiopathic) thrombocytopenic purpura (ITP) who have had an insufficient response to corticosteroids, immunoglobulins, or splenectomy. This clinical trial aims to investigate the association of Fc gammaRIIIA gene (V158F) genetic predisposition with treatment outcome of Immune Thrombocytopenia (ITP) in refractory ITP patients and especially with Eltrombopag.
NCT02877212 Immune Thrombocytopenic Purpura (ITP) Drug: Eltrombopag MeSH:Purpura Purpura, Thrombocytopenic Purpura, Thrombocytopeni Purpura, Thrombocytopenic, Idiopathic
HPO:Autoimmune thrombocytopenia Petechiae Purpura
This clinical trial aims to investigate the association of Fc gammaRIIIA gene (V158F) genetic predisposition with treatment outcome of Immune Thrombocytopenia (ITP) in refractory ITP patients and especially with Eltrombopag. --- V158F ---
The inclusion of 75 patients (25 ITP patients treated with Eltrombopag and 50 subjects with ITP treated with other standard IST) would be considered as sufficient to show an association of the FcgammaRIIIA V158F genotypes distribution and THPO expression with the response for the patients treated with Eltrombopag and other IST at different time points; (M0, M3 and M6 )** **M0=pretreatment sample at 0 month; M3=sample after 3 months of treatment; M6= sample after 6 months of treatment.. --- V158F ---
3. Fc gamma RIIIA V158F polymorphism will be assessed by means of an allele-specific PCR and/nested PCR following sequence verification 4. In order to validate the genotypes of study participants; direct sequencing of the SNPs will be done through automated capillary sequencing method. --- V158F ---
8. To find the association of the Fc V158F genotypic distribution with THPO and cytokine expression in THPO agonists responders and nonresponders ; statistical analysis will be performed by using statistical program SPSS (Version 23.0) . --- V158F ---
Primary Outcomes
Measure: The overall response rate 4-6 months after treatment defined by a platelet count > 30 x 109/L with at least a two-fold increase from the initial (pre-treatment) count Time: 6 months after inclusionDescription: The inclusion of 75 patients (25 ITP patients treated with Eltrombopag and 50 subjects with ITP treated with other standard IST) would be considered as sufficient to show an association of the FcgammaRIIIA V158F genotypes distribution and THPO expression with the response for the patients treated with Eltrombopag and other IST at different time points; (M0, M3 and M6 )** **M0=pretreatment sample at 0 month; M3=sample after 3 months of treatment; M6= sample after 6 months of treatment.
Measure: Fc Receptor polymorphism and THPO expression in responders and non-responders Time: 6-12 months after inclusionSecondary Outcomes
Description: The Thrombopoietin and cytokine expression among the responders and non responders will be taken as secondary outcome to evaluate the influence of Fc gamma RIIIA mutated genotypes to evaluate the correlation between steroid refractory and control groups.
Measure: The Thrombopoietin and cytokine expression among the responders and non responders Time: 6 months