Genetics and Genomics of Aspirin Exacerbated Respiratory Disease (AERD) (AERD)
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|ClinicalTrials.gov Identifier: NCT04261582|
Recruitment Status : Suspended (On hold due to COVID-19 outbreak)
First Posted : February 10, 2020
Last Update Posted : May 18, 2020
|Condition or disease|
|Aspirin Exacerbated Respiratory Disease Aspirin-Sensitive Asthma Nasal Polyps|
|Study Type :||Observational|
|Estimated Enrollment :||245 participants|
|Official Title:||Genetics and Genomics of Aspirin Exacerbated Respiratory Disease (AERD)|
|Actual Study Start Date :||November 6, 2018|
|Estimated Primary Completion Date :||April 2021|
|Estimated Study Completion Date :||April 2022|
Participants with aspirin exacerbated respiratory disease. Adults with aspirin allergy, nasal polyps and adult-onset severe asthma.
Healthy participants that do not have asthma.
Non-aspirin sensitive asthma participants
Participants with asthma, but that do not have a sensitivity to aspirin.
- Evaluation of EGR related gene expression in AERD [ Time Frame: Through study completion, 3 years ]Researchers will obtain global gene expression of freshly brushed nasal airway epithelial cells of AERD patients, non-aspirin sensitive asthma patients, and healthy patients using nasal swab samples and running RNAseq on the collected cells. Researchers will contrast AERD gene profiles against non-aspirin sensitive asthma patients and healthy patients and determine whether down-regulation of EGR genes is found in AERD.
- Relation of EGR gene expression to epigenetic gene methylation [ Time Frame: Through study completion, 3 years ]To determine whether whole genome methylation profiling is altered in association with down-regulated EGR genes. Researchers will obtain complementary whole-genome methylation profiles of the study participants and will evaluate whether down-regulated EGR genes in AERD patients are associated with methylation differences by a composite analysis integrating expression and epigenetic data. MethylMix R software program will be used to identify methylation changes associated with gene expression changes. MethylMix integrates DNA methylation from normal and disease samples with matched gene expression. In summary, MethylMix defines hyper and hypomethylated genes by comparing methylation values of disease tissue vs. normal.
- Influence of Genetic variation on EGR related gene expression [ Time Frame: Through study completion, 3 years ]To determine whether genetic mutations associate with down-regulated EGR gene expression in AERD patients. We will obtain genotypes on these same study participants and evaluate whether down-regulated EGR genes are associated with mutations by a composite analysis integrating expression and genotypes. The Affymetrix genotyping workflow consists of 4 steps; first 3 steps use a set of stand-alone software packages, and the 4th step using R package SNPolisher. Sample QC will be evaluated by Dish-QC statistic, retaining samples with default Dish-QC > 82%. Genotyped samples with a call rate lower than default value of 97% will be excluded. Platewise QC will be evaluated by manually calculating 'Plate Pass Rate' and 'Average Plate Call Rate' statistics, with default cutoff values of 95 and 99%. Genotyping step will be rerun for samples passing quality criteria. SNPolisher will evaluate quality of the signal and classify each SNP probe.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04261582
|United States, Colorado|
|National Jewish Health|
|Denver, Colorado, United States, 80206|