SNPMiner Trials by Shray Alag


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Report for Mutation H131R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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 ---

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 weeks

Description: 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 weeks

Description: 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 weeks

Description: 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 weeks

Description: 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 weeks

Secondary 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 years


HPO Nodes


Multiple myeloma
Genes 3
LIG4 CCND1 GBA