Actively Recruiting

Age: 0 - 6Months
All Genders
ID02061306

Celiac Disease Genomic Environmental Microbiome and Metabolomic (CDGEMM) Study

Led by Massachusetts General Hospital · Updated on 2026-04-17

500

Participants Needed

2

Research Sites

N/A

Total Duration

On this page

Sponsors

M

Massachusetts General Hospital

Lead Sponsor

U

University of Roma La Sapienza

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are studying celiac disease (CD), a complex condition triggered by eating gluten found in wheat, rye, and barley. This study aims to understand how genes, environmental factors, the gut microbiome, and metabolomic profiles contribute to the development of CD, especially in children at higher risk due to family history. By examining these factors, the researchers hope to find ways to better predict and prevent CD in high-risk infants. The study involves infants under 6 months old who have a first-degree relative with biopsy-confirmed celiac disease. Researchers will collect detailed information on genetics, birth method, antibiotic use, feeding method, illnesses, infections, and growth. They will regularly update this information every six months until the child reaches five years old. The study also focuses on analyzing gut bacteria and metabolites through stool samples and other biological assessments to see how these relate to disease development. Participants will be followed from infancy up to five years of age with evaluations every six months. These include microbiome sequencing from stool samples, blood tests for gut permeability and immune responses, and questionnaires about health and diet. The main outcome is to track changes in gut bacteria composition over time, particularly around gluten introduction and the potential onset of autoimmunity. Secondary outcomes include monitoring gut permeability and immune markers to understand loss of gluten tolerance. The study will help identify early signs or risk factors for CD in at-risk infants.

CONDITIONS

Brief Title

Celiac Disease Genomic Environmental Microbiome and Metabolomic Study

Who Can Participate

Age: 0 - 6Months
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Newborns and infants less than 6 months of age who have not been introduced to solid foods (exclusive breast milk or formula diet)
  • First-degree relatives of patients affected with biopsy-proven CD
Not Eligible

You will not qualify if you...

  • Infants older than 6 months of age
  • Inability or unwillingness of legal guardian/representative to give written informed consent

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Monitoring

Duration - Up to 5 years

Participants who have a first-degree relative with celiac disease are observed over time. Information about their environment, medical history, and growth is collected to understand factors that may affect the development of celiac disease.

Visits every six months until age 5

Sample Collection

Duration - Up to 5 years

Biological samples are collected to study the gut microbiome and metabolomic profiles of participants and how these change over time in relation to celiac disease development.

Sample collection every six months until age 5

Trial Site Locations

Total: 2 locations

1

MassGeneral Hospital for Children

Boston, Massachusetts, United States, 02114

Actively Recruiting

2

University of Roma La Sapienza

Rome, Italy, 00185

Actively Recruiting

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Research Team

V

Victoria Kenyon, MHA

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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Published Research Related To This Trial

Multi-omics analysis reveals the influence of genetic and environmental risk factors on developing gut microbiota in infants at risk of celiac disease.

Maureen M Leonard, Hiren Karathia, Meritxell Pujolassos...

https://pubmed.ncbi.nlm.nih.gov/32917289