DNA

GEPPA Study

Gene Expression Profiling in Pediatric Appendicitis

Study Summary

Currently there is no single blood test that specifically identifies appendicitis. At this point in time, health care providers use very general blood tests including the infection-fighting cell count and markers of inflammation. While these tests are often used, they are not specific to appendicitis; many other causes of abdominal pain are also increased in these tests. The field of transcriptomics measures messenger RNA (mRNA) in cells in the blood. During daily functioning, different genes in humans are turned on and off (“expressed”) according to need and environmental exposure. Humans respond to illness by changing the amount that individual genes are expressed, which can be measured by the patterns of mRNA found in blood cells. The aim of the GEPPA study is to use the transcriptomics approach to distinguish those children with appendicitis from those with other causes of abdominal pain. The results of the GEPPA study have the potential to define and guide future diagnostic strategies for pediatric appendicitis. Moreover, by determining the gene expression during appendicitis, the results of the GEPPA study may provide insight into underlying mechanisms of disease, thus leading to future biological targets for intervention and management of appendicitis in children.

Objectives

  1. To identify a specific gene expression profile that will accurately separate children presenting to the ED with abdominal pain into those with appendicitis versus those without appendicitis
  2. To stratify gene expression profiles based on severity of disease (perforated versus non-perforated appendicitis)

Principal Study Investigator: Dr. Graham Thompson

Study Coordinator: Dori-Ann Martin

Study Team: Dr. Mary Brindle, Dr. Robin Eccles, Dr. R.E.W. (Bob) Hancock, Dr. Hans J. Vogel