Genome Environment Microbiome and Metabolome in Autism Study

NCT04271774 | Completed

• 1 other identifier: 2018P002109
• Study Type: observational
• Target: 344
• Locations: 3 countries
• Sites: 3

Brief Summary

GEMMA is a multicenter longitudinal observational study that follows children who are genetically at-risk of developing autism for their first three years of life, seeking to identify potential biomarkers predictive of autism development in the blood, stool, urine and saliva. The biomarkers identified in this project will contribute to a better understanding of the pathogenesis of ASD in at-risk children and possible solutions for alleviating and/or preventing ASD and ASD-related symptoms in patients in the future.

Conditions

Autism Spectrum Disorder

Keywords

autism; microbiome; infants; pregnancy; genetic

Outcome Measures

Primary Outcomes (1)

• Use of microbiome/metagenomics/metatrancriptomic analysis to identify through our proposed prospective study and validate through large existing microbiome projects multi-omic biomarker predictors of ASD in at-risk infants.

  i.e. stool and urine metabolites, alteration of gut permeability (via serum zonulin levels), abnormal immune response to dietary proteins (via IgA and IgG levels) and increased low-grade chronic inflammation (via serum pro-inflammatory cytokines).

  5 years

Study Arms (1)

Infants with ASD-affected sibling

Infants, enrolled at 0-6 months of age, who have a sibling diagnosed with ASD.

Eligibility Criteria

• Age: Up to 6 Months
• Sex: all
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Newborns and infants less than 6 months of age who are first-degree relatives of ASD individuals (at least one sibling with an ASD diagnosis) are eligible for participation.

You may qualify if:

• Healthy newborns and infants less than 6 months of age who have not been introduced to solid foods (elementary formula feeding is permitted)
• First-degree relatives of ASD individuals (at least one sibling affected by ASD)

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
• Azienda Sanitaria Locale Salerno: collaborator
• National University of Ireland, Galway, Ireland: collaborator

Study Sites (3)

Massachusetts General Hospital for Children

Boston, Massachusetts, 02114, United States

Location

National University of Ireland Galway

Galway, H91 TK33, Ireland

Location

The Azienda Sanitaria Locale Salerno

Salerno, 84124, Italy

Location

Related Links

• GEMMA Study Website

Biospecimen

Retention: SAMPLES WITH DNA

Periodic collection of blood, stool, urine and saliva samples from enrolled infant. One-time collection of blood, stool, urine and saliva samples from enrolled infant's ASD sibling and parent(s).

MeSH Terms

Conditions

Autism Spectrum Disorder; Autistic Disorder

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Alessio Fasano, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: February 12, 2020
• First Posted: February 17, 2020
• Study Start: July 1, 2019
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: April 15, 2026

Record last verified: 2026-04

Locations

IE (1); IT (1); US (1)