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PPI Precision Medicine Study: A National Collaborative Study

innovative in science and medicine
About Precision Medicine

What is the Research Study About?

While safe and effective for the majority of patients, Proton Pump Inhibitor (PPI) therapy for GERD fails in 40% of children. When this happens, the only other option that doctors have to manage GERD is surgery, which comes with inherent risk. What if we could predict which patients were likely to fail PPI therapy and adjust their treatment accordingly? This is the goal of Precision Medicine, which accounts for factors that influence response to drug therapy including individual variability in genes, environment, and lifestyle allowing doctors and researchers to predict more accurately which treatment and prevention strategies will be most effective for an individual. In this study we will establish the most effective PPI dose for an individual, based on genetic variation that influences how PPIs are metabolized by the body.

What is Precision Medicine? 

In conventional dosing (Figure 1A), PPI dose is based primarily on weight and is initially determined from population studies to maximize response for most people (about 60%). This means that for 40% of the population, the drug doesn’t work as expected. In genotype-guided dosing, the dose of the drug is adjusted based on the genetics of the individual theoretically maximizing response in up to 100% of the individuals (Figure 1B).

Figure 1A: Conventional Dosing of PPI for GERD with watermark - Ed Mougey
Figure 1A: Conventional Dosing of PPI for GERD
Figure 1B: Genotype Guided Dosing of PPI for GERD with watermark - Ed Mougey
Figure 1B: Genotype Guided Dosing of PPI for GERD

Study Design

With your / your child's consent, we will collect a saliva sample from your child to obtain genomic DNA. We will also collect samples of the bacteria that live on and inside your child. After your child has been taking PPIs for a period of time, we will ask you to come in so that we can monitor how well the PPI is working, and how the amount of PPI in your child’s blood changes over time. We will then look for associations between genetic variants, bacteria profiles, and response to PPI therapy. This data is important because it will help us to identify the correct PPI dose for different children.

  • Study Type Prospective Intervention (Clinical trial)
  • Estimated Enrollment 750 participants
  • Primary Purpose Optimize PPI therapy for different CYP2C19 metabolizer phenotypes
  • Official Title Pharmacogenetic Approach to Optimizing Proton Pump Inhibitor Treatment in Children
  • Estimated Study Completion Date December 31, 2025
  • Study Start Date Pending
brunette female student with notes and backpack
two happy girls smiling together outside

Research Study Participant Eligibility Criteria

If you are between the ages of 2-18 years old, have been diagnosed with GERD, have been prescribed a proton pump inhibitor and meet the following criteria:

  • Have not taken antibiotics, systemic steroids, antifungals, antivirals, antiparasitics, immunosuppressants or cytokines in the last 6 months
  • Have not taken swallowed steroids (e.g. budesonide) in the last 8 weeks
  • Have not had esophageal surgery
  • Do not have Inflammatory Bowel Disease, Celiac Disease, or another gastrointestinal disorder
  • Have access to the internet and phone service
  • Are currently under the care of a pediatric gastroenterologist

Our EoE Team is Ready

My background is that I was trained in general pediatrics and pediatric gastroenterology at the Children’s Hospital of Philadelphia. I am currently in sunny Orlando, Florida at Nemours Children’s Hospital and serve as the Division Chief for the Division of Gastroenterology, Hepatology and Nutrition. I have had the privilege to care for patients with EoE for over 12 years.

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 Precision Medicine Study will advance our knowledge about how the dosing of PPIs should be adjusted based on an individual's genetics. This knowledge will allow our physicians to recommend treatment options that are individually personalized, to improve response and reduce the need to resort to surgical solutions for GERD management.

James P. Franciosi Signature

James P. Franciosi M.D., M.S., M.S.C.E., F.A.A.P.
Chief, Division of Gastroenterology, Hepatology and Nutrition

Help advance our research to improve our treatments

If you are interested in participating in our research study, call us or click the link below to email our study team member.

Contact Us