Celiac Disease Genomic Environmental Microbiome and Metabolomic Study

NCT02061306 | Recruiting

• 1 other identifier: 2013P001965
• Study Type: observational
• Target: 500
• Locations: 2 countries
• Sites: 2

Brief Summary

Celiac disease (CD) is a complex disease caused by eating gluten, a protein contained in wheat, rye, and barley. It is well known that many factors contribute to the development of CD, including the genes that you have and the foods that you eat. In the CDGEMM study, we will consider as many of these factors as possible and study how they each contribute to disease development. If the investigators find that any one factor, or combination of factors, increases the risk of developing CD, we will be able to apply this information and help prevent or detect disease in high-risk children in the future.

Conditions

Celiac Disease

Keywords

Celiac disease; coeliac disease; microbiome; gluten; infants; pregnancy; genetic

Outcome Measures

Primary Outcomes (1)

• Change in composition of the microbiota of CD in at-risk infants using culture-independent high-throughput sequence analysis of the 16S rRNA genes using the Illumina sequencing platform.

  We will use stool samples collected over time to survey the microbial community in order to establish microbiota patterns associated with CD autoimmunity.

  Every six months through five years of age with specific focus on time of gluten introduction, time at which gluten tolerance is lost and autoimmunity develops (if applicable), and parallel time points in infants who do not go on to develop autoimmunity

Secondary Outcomes (1)

• Change in gut permeability measured by serum zonulin levels and loss of gluten tolerance measured by increased expression of pro-inflammatory cytokines and appearance of anti-tTg antibodies.

  Every six months until age 3. Every year thereafter until age 5.

Other Outcomes (1)

• Comparison of the characterization of infants' metabotypes (metabolomes) using an established and proven commercial metabolomics technology platform by Metabolon, Inc.

  Every six months through five years of age with specific focus on time of gluten introduction, time at which gluten tolerance is lost and autoimmunity develops (if applicable), and parallel time points in infants who do not go on to develop autoimmunity

Study Arms (1)

Infants with a first-degree relative with celiac disease

Infants who have a first-degree relative diagnosed with celiac disease.

Eligibility Criteria

• Age: Up to 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Newborns and infants younger than 6 months who are first-degree relatives of CD patients (at least one parent or sibling affected with biopsy-proven CD) are eligible for participation.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• University of Roma La Sapienza: collaborator
• Università Politecnica delle Marche: collaborator

Study Sites (2)

MassGeneral Hospital for Children

Boston, Massachusetts, 02114, United States

RECRUITING

University of Roma La Sapienza

Rome, 00185, Italy

RECRUITING

Related Publications (1)

• Leonard MM, Karathia H, Pujolassos M, Troisi J, Valitutti F, Subramanian P, Camhi S, Kenyon V, Colucci A, Serena G, Cucchiara S, Montuori M, Malamisura B, Francavilla R, Elli L, Fanelli B, Colwell R, Hasan N, Zomorrodi AR, Fasano A; CD-GEMM Team. Multi-omics analysis reveals the influence of genetic and environmental risk factors on developing gut microbiota in infants at risk of celiac disease. Microbiome. 2020 Sep 11;8(1):130. doi: 10.1186/s40168-020-00906-w.

  PMID: 32917289 DERIVED

Related Links

• CDGEMM Study Website

Biospecimen

Retention: SAMPLES WITH DNA

Periodic stool and blood collection from infant, optional cord blood sample. Optional collection of maternal stool samples prenatal and enrollment, including enrollment breast milk sample.

MeSH Terms

Conditions

Celiac Disease

Condition Hierarchy (Ancestors)

Malabsorption Syndromes; Intestinal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Alessio Fasano, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

• Maureen M. Leonard, MD

  Massachusetts General Hospital

  STUDY CHAIR

Central Study Contacts

Victoria Kenyon, MHA

CONTACT

617-643-4366; vakenyon@mgb.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief of Pediatric Gastroenterology and Nutrition

Study Record Dates

• First Submitted: February 6, 2014
• First Posted: February 12, 2014
• Study Start: March 1, 2014
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: April 17, 2026

Record last verified: 2026-04

Locations

US (1); IT (1)