The aim of the Center for Celiac Research Pediatric Biorepository is to investigate biomarkers of intestinal healing in children and young adults with celiac disease. Though IgA tTG is a valuable blood test for identifying children with untreated celiac disease, recent studies have shown it to be inadequate for monitoring children once a diagnosis of celiac disease is established.
Because celiac disease causes damage to the absorptive surface of the intestine, a chronically ongoing disease process (ongoing intestinal damage) may have negative health outcomes including nutritional deficiencies, poor growth, or ongoing celiac-associated symptoms such as diarrhea and abdominal pain. Thus, it is important for a gastroenterologist to follow children once a diagnosis of CD has been established to ensure that they successfully achieve remission of their celiac-associated enteropathy (intestinal damage).
Presently there are no biomarkers validated specifically for purposes of monitoring children with celiac disease. To investigate this, children who are scheduled for endoscopy procedures at Mass General for Children with signs or symptoms of celiac disease, or a known diagnosis of celiac disease, are offered participation in our biorepository. Those who participate can choose to provide blood, stool, urine and/or intestinal biopsy samples at the time of their visit to the hospital for this procedure. The samples are then stored in our biorepository until they are selected into a specific study. Exciting studies in the pipeline include quantifying the amount of gluten in stool samples - to know if gluten was ingested, whether it be accidental or purposeful - and testing the serum (a component of blood) for specific markers that correlate with active intestinal damage.
Since beginning in October of 2016, our biorepository has enrolled 90 children and young adults between the ages of 2 and 21 years. We are excited to continue the enrollment process and begin these valuable studies to inform clinicians regarding how to best care for children with celiac disease.