By Amy Ratner, Beyond Celiac Medical and Science News Analyst

Katherine Connell sometimes wear great big bows in her hair, but the first thing you’ll notice is the big smile on her face.

Perhaps the sunny toddler is not quite what you picture when you think about celiac disease research.

But though she’s not quite a year old yet, Katherine is part of a study designed to examine each of the many factors that contribute to the development of celiac disease. The Celiac Disease Genomic Environmental Microbiome and Metabolic Study (CDGEMM) is being done by the Center for Celiac Research at Massachusetts General Hospital, MassGeneral Hospital for Children, and the Celiac Program at Harvard Medical School.

Caroline, Katherine’s mother, enrolled her infant daughter in the study because she is fascinated by what researchers could learn by studying infants over the five years they will be followed.

“She could be part of finding the cure for celiac disease,” Caroline says. “They could find a cure, or they could find out why someone develops celiac disease at 4 or 44.”

GEMM babies

Why and when people develop celiac disease is a key unknown about the condition, a serious genetic autoimmune disease that requires a trigger to set off the abnormal reaction to gluten that damages the villi of the small intestine and interferes with absorption of nutrients from food.

CDGEMM is a prospective, observational and multi-center study of the genetic makeup, environmental conditions, and gut microbiome — the bacteria that live normally in the intestines — of participating babies and children. “Our goal is to identify how these factors contribute to disease development so that, in the future, we may be able to predict who will develop celiac disease before it happens,” researchers explain.

Though the title of the study is somewhat long and complicated, the infants being enrolled are known as the appropriately short and sweet “GEMM babies.”

“It’s a group of babies with no idea what they are doing, but they could be changing the future of celiac disease,” says Caroline, a nurse who was diagnosed with celiac disease four years ago. She learned about the study from her primary care doctor in Boston. After doing her homework on what the study involves, she says she did not hesitate to sign up Katherine. But she did have to reassure her husband, Michael, that their baby would not suffer any harmful effects. “He’s totally on board now,” she says.

The family has since moved to Arkansas, but Katherine is still able to participate in the study, which continues to enroll babies who have a parent or sibling diagnosed with celiac disease. Stool samples are collected at home and blood samples at a local lab, and both are sent to the celiac center. Caroline also submits a diary of what Katherine eats and the medications she takes and answers questions about her medical and social history every six months.

Role in the study

She says it has been easy to meet the study requirements, especially since most of the paperwork is done online, adding that even parents without any medical background can do it. Additionally, the study team is very responsive and supportive, she notes. Parents of babies in the study and the physicians on the study team are also connected through a private Facebook group. There is a common bond with some discussions about the study and others about parenting in general in a family with celiac disease.

Neither the long term commitment nor the required tests deterred Caroline from enrolling Katherine when she was five months old. “Now it’s part of everyday life,” Caroline says. “Katherine may or may not have celiac disease, but if information about her body or what happens to her can help someone else, the benefits are much more important.” She notes that there are only a few periodic blood tests that draw a little blood so she’s not worried about exposing her daughter to undue pain.

As part of the study, Katherine will have early genetic testing that will shed some light on whether she has the potential to develop celiac disease, as her mother, grandfather and great grandmother did.

As she gets older, Katherine’s parents will tell her about her role the study, first in simple terms that a four- or five-year-old can understand. And one day, they’ll let her know she played a part in furthering celiac disease research.

“Right now, she doesn’t really have a say,” Caroline explains. “But it’s fascinating that she could be part of finding the cure for celiac disease or some other significant break-through. Being part of that will be part of her life story.”

Enrollment continues

The CDGEMM study is continuing to enroll infants for participation in centers in the United States and Italy. So far 103 babies have been enrolled, with a goal of 500 within the next two to three years.

Researchers will study different factors involved in the development of celiac diseases, including genetics and environmental factors such as method of birth delivery, use of antibiotics, breast or formula feeding and timing of food introduction early in the infant’s life.

Here are the details from the Center for Celiac Research and the Celiac Program at Harvard Medical School:

Who can participate?

We are enrolling infants under 6 months of age who have a first-degree relative (mother, father or sibling) diagnosed with celiac disease. The risk of developing celiac disease is increased (8-15%) in this specific population as compared to the general population (1%). If you are currently pregnant and your soon-to-be infant will fit these criteria, you can even begin the enrollment process before birth.

What is involved?

• We will collect blood and stool samples from your child throughout the study.
• You will keep a diary of your infant’s antibiotic use and dietary history for the first year of life.
• You will answer questions about your infant’s medical and social history approximately every six months.
• Forms can be completed securely online.
• Study visits can be conducted at the center where you enroll or at your child’s pediatrician’s office.

What are the benefits?

Each time blood is drawn, we will check your child’s blood for specific markers of celiac disease. We will share these results with you. If your child is found to have celiac disease, he or she will benefit from early diagnosis and treatment. Other complications associated with the disease can be prevented if diagnosis is made early. We will also perform genetic testing to determine if your child has the genes compatible with celiac disease. We will share this information with you, too, so that you will have a better sense of your child’s risk of disease development.

If you’d like to find out more about the study, go to CDGEMM.org

Beyond Celiac has been spreading the word about the study since its launch in 2014. You can read more about the early stages of enrollment here. To keep up-to-date on celiac disease medical and science news, sign up for the Beyond Celiac Research Opt-In here.