Molecular Profiling and Associations with Clinical Phenotypes in Adult Eosinophilic Esophagitis

Eosinophilic Esophagitis (EoE) has emerged as a common cause of dysphagia and esophageal food impactions in adults over the past few years1. Estimates of prevalence in adults are currently 1-2 per 10,000 2. These numbers suggest that EoE may be as common as other immunologically related diseases such as inflammatory bowel disease. In EoE, eosinophils are a dominant signature of the inflammatory cells that infiltrate the esophagus and subsequently lead to structural alterations such as mucosal rings and strictures3. These remodeling changes can result in significant dysphagia with complications such as recurrent food impactions that can necessitate urgent upper endoscopy. In this study, we will explore the following Specific Aims: 1. To define specific clinical phenotypes and define how these associate with treatment response outcomes approach in adult EoE. 2. To define the molecular signatures associated with clinical phenotypes and response or failure to treatment in adult EoE. This will be continuation of an existing prospective IRB approved clinical trial with the major aim of completing gene analysis on existing tissue specimens. DHF Research Proposal – N. Gonsalves 3 Primary endpoints: 1) Identification of clinical phenotypes and predictors of response/nonresponse. 2) Identification of genetic markers upregulated in adults with eosinophilic esophagitis to determine how these relate to predictors of response/nonresponse to therapy.