Implementation of PPI Medication PGX Testing
Condition: Gastroesophageal Reflux
MeSH terms: Gastroesophageal Reflux
Intervention: Genotype Guided PPI Dosing
Intervention description: Dosing of PPIs such as Prevacid and Nexium will be recommended based on CYP2C19 genotype information.
Intervention MeSH terms: Proton Pump Inhibitors
Phase: Phase 4
Study type: Interventional
Primary purpose: Treatment
Intervention model: Single Group Assignment
Masking: None (Open Label)
Enrollment: 28.0
Sex: All
Minimum age: 2 Years
Maximum age: 17 Years
Healthy volunteers: No

Summary:

      Using genetic information about the individual to pick the right drug for the right disease
      at the right dose defines personalized medicine. This pilot study seeks to institute
      pharmacogenomic testing, that is identifying genetic variation that influences patient
      response to drugs, into the Nemours Children's Health system. We propose to initiate the
      study by identifying genetic differences in cyp2c19, a gene that is responsible for a certain
      enzyme in the liver that metabolizes many drugs including a class of drugs called proton pump
      inhibitors (ppi; Prevacid, Nexium). PPIs are used to treat heartburn and other symptoms of
      gastroesophageal reflux disease (gerd) and are extensively used in pediatrics. Chronic use of
      PPIs can cause serious side effects including cold, pneumonia and stomach infections, which
      gets worse at higher doses. Children who poorly metabolize drugs because of genetic variation
      in cyp2c19 should get lower doses of PPIs than children who metabolize PPIs normally. Our
      pilot study will genotype children with gerd or other stomach acid mediated conditions for
      which a PPI is prescribed using a sample of spit to determine which dose of PPI they get
      based on the form of the cyp2c19 gene they have. We will study 120 children 2-17 yo diagnosed
      with gastroesophageal reflux disease (gerd) or other stomach acid mediated conditions for
      which a ppi is prescribed . Genetic results are available in < 60 minutes, and their doses
      are determined by their doctor based on genetic results. This study will allow us to gain
      valuable experience that will be used to expand our genetic program to other genes and drugs.
    

Eligibility criteria:

        Inclusion Criteria:

          -  Children diagnosed with Gastroesophageal Reflux Disease (GERD) or a stomach acid
             mediated condition for which a PPI is prescribed.

          -  Currently taking or will be prescribed Proton Pump Inhibitor (PPI) medication

          -  Parents/legal guardians and or child must also have access to the internet and a valid
             email address to complete weekly required forms.

        Exclusion Criteria:

          -  Children who have had peptic ulcer surgery;

          -  with a history of PKU

          -  with a history of previous adverse effects from PPI treatment or a sensitivity to
             aspartame (NutraSweet, Equal);

          -  who are non-adherent including inability or unwillingness of the legal guardian to
             provide consent of unwillingness of the child to provide assent;

          -  who are unable to take study medications;

          -  who are unable to communicate via telephone or other device;

          -  who do not have access to a computer with internet access