Dissecting the Genetics of Fetal Alcohol Spectrum Disorders (DiGFASD)

May 4, 2023 updated by: Tatiana Foroud, Indiana University

The purpose of this study is to help scientists understand why some people who were exposed to alcohol in the womb have special facial features but other people do not. This study will test if genetics (or DNA) explains these differences. We hope this will help improve treatments and interventions for people with fetal alcohol spectrum disorders (FASD).

Participants in this study (or their parents or legal guardians) will be asked to:

  • Answer some questions about themselves. These questions ask about their demographic background (such as gender, race, ethnicity, income, and education), their health history, and their mother's health during her pregnancy with them (if that information is known).
  • Speak with study staff briefly by phone or video chat to confirm enrollment in the study and ask any questions they have.
  • Take photographs of their face.
  • Provide a saliva sample for genetic research.

Participants can complete the study at home from anywhere in the world. The questions can be answered online, over the phone, or on paper. Adopted families are welcome to enroll. The study pays for all shipping costs.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

Fetal Alcohol Syndrome (FAS) typically involves poor growth for age, particular facial characteristics, and cognitive deficiencies. Although FAS was first described in the literature over 40 years ago, significant challenges remain in the development of rapid and efficient approaches to identify individuals who were prenatally exposed to alcohol. Further, no widely available effective interventions or treatments to improve the long term outcomes of individuals with FAS and related disorders (collectively known as Fetal Alcohol Spectrum Disorders or FASD) exist, despite the high prevalence (as high as 33.5 per 1,000 in some communities) of FASD across the United States.

The Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD) seeks to address critical issues related to earlier and improved recognition of FASD, identify biomarkers of exposure, and elucidate the genetic risk factors contributing to FASD risk and resilience by conducting multidisciplinary projects and maintaining cooperative resources. This project is part of CIFASD's ongoing efforts and will specifically address the elucidation of genetic factors that contribute to risk and resilience in FASD.

Prior work with animal models of FASD have identified genetic variants that contribute to alterations in facial morphology after exposure to alcohol during embryonic development (McCarthy et al., 2013). Prenatal alcohol exposure also activates immune pathway genes in animal models. The identification of these genetic factors suggest that genetic variation may similarly contribute to differences in response to prenatal alcohol exposure in humans. The goal of this project is to identify genetic variants that protect against or increase the effects of prenatal alcohol exposure in humans.

Study Type

Observational

Enrollment (Actual)

751

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Abigail Erickson
  • Phone Number: 844-378-0002
  • Email: fasd@iu.edu

Study Locations

  • United States
    • Indiana
      • Indianapolis, Indiana, United States, 46202
        • Indiana University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 month to 110 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Individuals with FASD or prenatal alcohol exposure will be recruited throughout the world.

Description

Inclusion Criteria:

  • Documented or suspected history of prenatal alcohol exposure OR Fetal Alcohol Spectrum Disorder (FASD) diagnosis
  • Speaks English

Exclusion Criteria:

  • No documented or suspected history of prenatal alcohol exposure OR FASD diagnosis
  • Does not speak English

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
All participants
All participants in the study will experience the same procedures.
Other: No intervention
This study does not involve any interventions.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Facial Risk Score
Time Frame: through study completion, an average of 1 year

Facial Risk Score

Each participant's facial images will be evaluated and a Facial Risk Score will be assigned to each individual. This risk score is relative to all individuals participating in the study, and therefore will be updated at the end of each year. Final scores will be completed at the end of the study. The risk score is computer-based, with high scores indicating increased dysmorphology and low scores indicating decreased dysmorphology.
through study completion, an average of 1 year
Whole Exome Sequencing (WES)
Time Frame: through study completion, an average of 1 year

Whole Exome Sequencing

After Facial Risk Scores have been assigned to each individual, two subsets of the study population will be selected: those with high risk scores, and those with low risk scores. Saliva samples from these subpopulations will be subjected to Whole Exome Sequencing (WES). Rare variant analysis will be performed in each gene to evaluate whether there are more rare variants in individuals from one group (e.g., high risk scores) compared to the other group (e.g., low risk scores). This will enable us to determine if the variant increases risk (more common in those with high risk scores) or increases resilience (more common in those with low risk scores).
through study completion, an average of 1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Indiana University

Collaborators

National Institute on Alcohol Abuse and Alcoholism (NIAAA)

Investigators

  • Principal Investigator: Tatiana Foroud, Indiana University
  • Principal Investigator: Leah Wetherill, Indiana University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 6, 2018

Primary Completion (Actual)

May 1, 2023

Study Completion (Actual)

May 1, 2023

Study Registration Dates

First Submitted

August 26, 2019

First Submitted That Met QC Criteria

August 27, 2019

First Posted (Actual)

August 28, 2019

Study Record Updates

Last Update Posted (Estimate)

May 5, 2023

Last Update Submitted That Met QC Criteria

May 4, 2023

Last Verified

May 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1801900355
  • U01AA026103 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

The types of information that will be shared include facial images and derived data, genetic data, demographic data, and data related to FASD diagnoses or prenatal alcohol exposure. No personally identifying information (such as name or birthdate) other than facial images will be shared.

IPD Sharing Time Frame

indefinite

IPD Sharing Access Criteria

Researchers who would like to access IPD must apply for access through the Collaborative Initiative for Fetal Alcohol Spectrum Disorders (CIFASD).

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP
  • ICF
  • ANALYTIC_CODE
  • CSR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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