Researchers at the Nemours Children's Health System have analyzed the usefulness of a simple genetic test in the treatment of eosinophilic esophagitis. The test would identify children who respond to a particular class of drugs, PPIs. In this way it would be possible to treat them right away in the best way for them.
Eosinophilic esophagitis is an inflammation of the esophagus that causes certain food allergic reactions. Currently, the most widely used treatment involves the use of PPIs, proton pump inhibitors. Usually used to treat diseases related to acidity problems. However, it is estimated that only 30% to 60% of patients with eosinophilic esophagitis respond to treatment. How to identify them in advance? According to the authors of the study, a genetic test might suffice.
The researchers examined tissues from 92 patients between 2 and 16 years. Children with some common genetic variants were about 9 times more likely not to respond to treatment. Furthermore, the variants could influence the greater efficacy of certain dosages compared to others.
The variants would influence the production of certain enzymes, which would make the drug more or less difficult to metabolize. Genetic tests would allow both to decide whether or not to give drugs, and in what quantities. Without the tests, however, doctors risk prescribing doses that are too high or too low for real needs. The next step will be to verify the effective effectiveness of the approach on a greater number of patients.