Cincinnati Children's researchers develop first molecular test to diagnose eosinophilic esophagitis

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Cincinnati Children's Hospital Medical Center
Cincinnati Children's researchers develop first molecular test to diagnose eosinophilic esophagitis Researchers at Cincinnati Children's Hospital Medical Center have developed the first molecular test to diagnose eosinophilic esophagitis (EoE), a chronic upper gastrointestinal disorder. The incidence of EoE has skyrocketed since it was first characterized two decades ago.

The test, based on a 96 gene expression profile, "offers an unprecedented opportunity to improve diagnosis and treatment, and a platform approach for other inflammatory diseases," says Marc Rothenberg, MD, PhD, director of allergy and immunology at Cincinnati Children's and senior author of the study. Up to now, gene expression profiling has not yet been well applied to inflammatory diseases, he says.

The study is published in the Dec. issue of the journal Gastroenterology. The lead author of the study is Ting Wen, PhD, a researcher in the Rothenberg lab at Cincinnati Children's.

The researchers used bioinformatics tools to develop the EoE diagnostic panel, which is composed of a 96 gene PCR array – considered the most reliable tool for analyzing the expression of a focused panel of genes.

The panel was developed from a set of esophageal biopsy samples from children diagnosed with EoE and from some children who do not have EoE. The researchers applied the panel to 148 children and adults with EoE and found it identified patients with approximately 96 percent sensitivity and 98 percent specificity. The diagnostic panel was also able to distinguish patients in remission from those who did not have EoE.

The researchers have preliminary evidence that the panel could identify patients likely to have disease relapse following treatment. "We aimed to provide a reliable next-generation diagnosis of eosinophilic esophagitis, and to offer a component of personalized medicine to each patient," says Dr. Wen. "We hope to ease the suffering of every child with EoE." EoE is characterized by a large number of white blood cells called eosinophils in the esophagus – the tube that connects the mouth to the stomach. The disease is caused by food allergies and possibly airborne allergens as well. Symptoms typically resemble gastro esophageal reflux but do not get better with anti-reflux medications. These symptoms may include trouble swallowing, vomiting, abdominal pain, and food getting stuck in the esophagus.

In an accompanying editorial, journal section editors Anson W. Lowe and Richard H. Moseley remark that "these findings provide proof of principle for the use of a tissue based molecular test in the diagnosis of EoE and highlight the advantages of such techniques over histologic analysis."

Cincinnati Children's has filed for several patents on the technology, one of which has been issued. The medical center also has entered into an option agreement with Diagnovus LLC, a specialized molecular diagnostic company focused on delivering personalized diagnostic information and services to physicians treating patients suffering from rare, orphan and less frequent diseases. The option will allow the company to validate the technology and potentially enter into a license agreement.

In addition to Dr. Rothenberg and Dr. Wen, other authors include scientists in the divisions of allergy and immunology; gastroenterology, hepatology and nutrition; and pathology.

### The study was supported by NIH grants R37 A1045898, R01 AI083450, P30 DK078392, 3 R01 DK076893 and U19 AI070235; the University of Cincinnati Institutional CTSA; the CURED (Campaign Urging Research for Eosinophilic Disease) Foundation; the Food Allergy Initiative; and the Buckeye Foundation.

About Cincinnati Children's Cincinnati Children's Hospital Medical Center ranks third in the nation among all Honor Roll hospitals in U.S. News and World Report's 2013 Best Children's Hospitals ranking. It is ranked #1 for cancer and in the top 10 for nine of 10 pediatric specialties. Cincinnati Children's, a non-profit organization, is one of the top two recipients of pediatric research grants from the National Institutes of Health, and a research and teaching affiliate of the University of Cincinnati College of Medicine. The medical center is internationally recognized for improving child health and transforming delivery of care through fully integrated, globally recognized research, education and innovation. Additional information can be found at http://www.cincinnatichildrens.org. Connect on the Cincinnati Children's blog, via Facebook and on Twitter.