A pilot study is underway to examine the gut microbiome and its potential role in predicting who will get celiac disease.

The CDGEMM (Celiac Disease, Genomic, Environmental, Microbiome, and Metabolomic) Study is aimed at understanding the role that our genes, our gut microbes and environmental factors play in the development of celiac disease. A major goal of this study, led by Alessio Fasano, MD, director of the Center for Celiac Research and Treatment at MassGeneral Hospital for Children, is to create a model to identify a pattern of gut bacteria, in combination with environmental factors to help us predict who will develop celiac disease before it happens. When we can predict who will develop celiac disease, our goal is to prevent it by developing treatments based on this work.

We are seeking 500 infants for the study; 264 babies in the US, Italy and Spain are currently enrolled. Participation involves periodic collection of the child’s blood, stool, and medical and dietary information. Genetic testing is performed to determine if the child carries the genes compatible with celiac disease, HLA DQ2 and DQ8. A person must carry at least one of these genes for celiac disease to develop; however, not all people with a celiac-compatible gene develop the disease. In fact, approximately 30 percent of the general population carries a gene compatible with celiac disease, and only about 1 percent of the population has celiac disease.

Genes and Celiac Disease Risk

The first pilot analysis for the CDGEMM study is currently being conducted using stool samples from a subgroup of participants. The small subgroup includes infants who are at high and standard risk of developing celiac disease, based on the presence of either DQ2 and/or DQ8 genes. The subgroup also includes a few infants who do not carry either the DQ2 or DQ8 gene and are not at risk of developing celiac disease.

Children aged 6 months or younger who have a parent or sibling diagnosed with celiac disease are eligible to participate.

We will compare the different microorganisms found in stool samples based on four categories: genetic risk for celiac disease, birthing delivery mode (vaginal or caesarean section), feeding type (breast or bottle fed) and antibiotic exposure. Stool samples were collected at 7-15 days after birth, 3 months of age and between 4-6 months of age. With this analysis, we hope to learn about any differences between the developing microbiome of all infants born via vaginal delivery or caesarean section, as well as differences between all infants based on their genetic risk for celiac disease.

We are still recruiting infants for the study. Children aged 6 months or younger who have a parent or sibling diagnosed with celiac disease are eligible to participate. For more information, please visit the CDGEMM study website.

To learn more about how you can support research and treatments designed to improvethe lives of those with celiac disease and related disorders, please contact us.