Our team has been fortunate to bring many advances to the field of pediatric EoE with over 60 peer reviewed publications. A focus on children, teens and families has always been at top of mind, with the development of the first and only patient/family validated outcome metrics called the PedsQLEoE module and the Pediatric Eosinophilic Esophagitis (EoE) Score (PEES™ v2.0).
Our PPIREoE Study will advance our knowledge about the factors, both environmental and genetic, that contribute to individual variability in response to proton pump inhibitor therapy for the treatment of eosinophilic esophagitis. This knowledge will allow our physicians to recommend treatment options that are individually personalized, to improve response and reduce the need for additional endoscopy procedures.Meet the Team
EoE therapeutic guidelines now support Proton Pump Inhibitor (PPI) medications as a therapy for eosinophilic esophagitis (EoE). Unfortunately, individual response to PPIs for treatment of EoE is highly variable (15-70%). Because of this, research to identify which patients may respond to PPI therapy has become increasingly important. We have developed a pioneering, internationally recognized team of translational researchers in the field of Proton Pump Inhibitor Responsive Eosinophilic Esophagitis (PPIREE) to identify the factors that contribute to individual variability in response. We are investigating how specific genetic variations affect the way children metabolize proton pump inhibitors and how this associates with health outcomes and side effects such as increased rates of infection.
People who carry the gene for an enzyme that has enhanced activity for metabolizing PPIs (EM) are more likely to fail PPI therapy for EoE than normal metabolizers (NM) (Figure 1A). Genetic variants in the signaling pathway responsible for recruiting eosinophils to the esophagus in EoE, can also influence response to PPI for EoE (Figure 1B). Individuals who carry signaling pathway variants that associate with increased recruitment of eosinophils to the esophagus in EoE are more likely to fail to respond to PPI for EoE.
If you are between the ages of 2-18 years old, have been diagnosed with Eosinophilic Esophagitis, have been prescribed a proton pump inhibitor and meet the following criteria:
With your / your child's consent, we will collect a saliva sample from your child to obtain genomic DNA for genotyping variants in CYP2C19 and STAT6 genes, among others. We will also collect samples of the bacteria that live on and inside your child. We will then look for associations between CYP2C19 / STAT6 genotypes, bacteria profiles, and phenotypes that we obtain from your child's medical history. This data is important because it will help us to identify factors that influence response to PPI therapy for EoE.
Study Type: Prospective Observational (Research Study)
Estimated Enrollment: 500 participants
Primary Purpose: Outcomes Analysis
Official Title: Metagenomic Analysis of Microflora in Children
Estimated Study Completion Date: December 31, 2025
Study Start Date: Pending
For detailed information about this study, please see the trial registration in Clinical Trials.Gov
If you have read the eligibility criteria above and meet the requirements, our Precision Medicine Study might be a good fit for your child.
If you are interested in participating in the Precision Medicine Study, email EoEOrlando@nemours.org. Our study staff will contact you.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about it.
To learn more about this study, you or your doctor may contact our research team directly at EoEOrlando@nemours.org.
For general information, visit Clinical Trials.
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