Study on genetic and environmental factors in autism development
Genome Environment Microbiome and Metabolome in Autism
Massachusetts General Hospital · NCT04271774
This study is trying to find out how genes and the environment affect the development of autism in babies who are at risk, by looking at different samples and factors over their first three years of life.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | N/A to 6 Months |
| Sex | All |
| Sponsor | Massachusetts General Hospital (other) |
| Locations | 3 sites (Boston, Massachusetts and 2 other locations) |
| Trial ID | NCT04271774 on ClinicalTrials.gov |
What this trial studies
The GEMMA study is a multicenter longitudinal observational project that follows infants at genetic risk for autism over their first three years of life. It aims to identify potential biomarkers in blood, stool, urine, and saliva that could predict the development of autism spectrum disorder (ASD). By examining genomic, environmental, microbiome, and metabolomic factors, the study seeks to enhance understanding of ASD pathogenesis and explore possible preventive measures. The research will involve whole genome sequencing and detailed environmental assessments to correlate findings with autism development.
Who should consider this trial
Good fit: Ideal candidates for this study are healthy newborns and infants under 6 months of age who have a first-degree relative with autism.
Not a fit: Patients who are older than 6 months or whose guardians are unable or unwilling to provide consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to early identification and potential prevention strategies for autism spectrum disorder in at-risk infants.
How similar studies have performed: Other studies have explored genetic and environmental factors in autism, but this specific approach combining multiple biomarker types is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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) Exclusion Criteria: * Infants older than 6 months of age * Inability or unwillingness of legal guardian/representative to give written informed consent
Where this trial is running
Boston, Massachusetts and 2 other locations
- Massachusetts General Hospital for Children — Boston, Massachusetts, United States (RECRUITING)
- National University of Ireland Galway — Galway, Ireland (RECRUITING)
- The Azienda Sanitaria Locale Salerno — Salerno, Italy (RECRUITING)
Study contacts
- Principal investigator: Alessio Fasano, MD — Massachusetts General Hospital
- Study coordinator: Victoria Kenyon, MHA
- Email: vakenyon@mgb.org
- Phone: 617-643-4366
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Autism Spectrum Disorder, autism, microbiome, infants, pregnancy, genetic