Friday, July 25, 2014

Studying celiac's infancy



Maureen Leonard, MD, is looking for 500 newborns at risk for celiac disease. The third-year Mass General Hospital for Children (MGHfC) Pediatric Gastroenterology fellow is working with Alessio Fasano, MD, director of the Center for Celiac Research and division chief of Pediatric Gastroenterology and Nutrition at MGHfC. They are part of a team that has designed a prospective, five-year study to understand the factors that contribute to the development of celiac disease. The multi-center, international study – Celiac Disease Genomic Environmental Microbiome and Metabolomic Study (CDGEMM) – is supported by the Celiac Program at Harvard Medical School, which includes MGHfC, Beth Israel Deaconess Medical Center and Boston Children’s Hospital.

What is the goal of the study?

We have several goals, but our primary goal is to identify and validate specific intestinal bacteria and metabolic profiles that might predict the onset of celiac disease in at-risk infants. By identifying these biomarkers, our long-term goal is to implement early interventions to prevent not only celiac disease, but also other autoimmune disorders that arise in childhood.

You are studying and recruiting infants. What are the benefits of researching babies?

By enrolling infants from zero to 6 months of age, we can examine factors occurring during gestation as well as early environmental exposures such as natural versus cesarean delivery, breastfeeding versus bottle, and antibiotic use. During an infant’s first few years of life, the intestinal microbiome – the vast collection of bacteria that live in our gut – develops alongside the immune system. By looking at the earliest development of an infant’s microbiome, we hope to eliminate many of the confounding factors that are present in an adult’s microbiome.

By following these infants for five years, we expect to learn which environmental factors – along with the infant’s specific genetic makeup – contribute to the development of a specific type of intestinal microbiome. Add this to the metabolites that the babies produce along with environmental factors, and we are looking at the total picture of what causes one infant to develop an autoimmune disorder, while another infant does not.

Why is this important now?

Similar to other autoimmune diseases, the prevalence of celiac disease, which can affect individuals at any age, has been rapidly increasing. Approximately 1 in 100 people have celiac disease, but many are undiagnosed due to varying clinical presentations with nonspecific symptoms. Celiac disease is a unique model to study autoimmunity. Not only have we identified the genetic markers, we can also measure the auto antibodies produced – but most important of all we know that the triggering factor is gluten. We also have sophisticated tools to study the genomic and microbiotic factors that might contribute to its development. Finally, the study results could be applicable to autoimmune disease in general.

How does the study work?

The infants eligible for enrollment must have a first-degree relative (mother, father or sibling) with celiac disease. They must be exclusively bottle or breastfed with no solid food. Since this is such a demanding time for new parents, we have designed the study to make it easy to participate. Parents can return questionnaires via email; send stool samples in the mail; and blood can be drawn at the infant’s primary care physician visits. All the materials are mailed to the participant at no cost. This means that the participants could live anywhere in U.S. or around the world and be a part of this extremely valuable study. 

For more information about the CDGEMM study, visit or email

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