SNPMiner Trials (Home Page)
Report for Mutation R620W
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Analysis of B Cells From Autoimmune Individuals
This observational study aims at finding out if individual with autoimmunity exhibit increased numbers of B cells that express two types (instead of one type) of antibodies, and if B cells of individuals genetically susceptible to autoimmunity display defects in the biological process of tolerance, which removes B cells that participate in autoimmunity.
NCT02747277 Lupus Erythematosus Rheumatoid Arthritis Type 1 Diabetes MeSH:Arthritis Arthritis, Rheumatoid Diabetes Mellitus, Type 1
HPO:Arthritis Polyarticular arthritis Rheumatoid arthritis Type I diabetes mellitus
Moreover, data will also be stratified in respect to the presence or absence of the PTPN22-R620W allele, which is a risk allele for autoimmunity.. Inclusion Criteria: - Adult Males and Females diagnosed with Lupus; - Adult Females who are pregnant and diagnosed with: - lupus erythematosus - rheumatoid arthritis, or - type 1 diabetes. --- R620W ---
Primary Outcomes
Description: For peripheral adult blood, the main outcome measure is the frequency of κ/λ (kappa to lambda ratios) dual immunoglobulin B cells within the overall B (CD19+ or CD20+) cell population. The collected data will be aggregated as the average frequency of κ/λ B cells in subjects with autoimmunity relative to healthy controls.
Measure: Frequency of kappa to lambda ratios of B cells in blood of autoimmune adults Time: 1 dayDescription: For cord blood samples, the main outcome measurement is the frequency of B cells that express both low levels of CD19 and IgM within the total (CD19+ or CD20+) B cell population. The collected data will be aggregated as the average frequency of CD19low/IgMlow B cells in subjects that were born from autoimmune mothers relative to those born from healthy mothers. Moreover, data will also be stratified in respect to the presence or absence of the PTPN22-R620W allele, which is a risk allele for autoimmunity.
Measure: Frequency of CD19 and IgM low B cells in cord blood of babies born from autoimmune mothers Time: 1 day