Dissecting the Genetics of Fetal Alcohol Spectrum Disorders

NCT04072809 | Completed

• 2 other identifiers: 1801900355U01AA026103
• Study Type: observational
• Target: 751
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Fetal Alcohol Spectrum Disorders

Keywords

Fetal Alcohol Syndrome; Alcohol Related Neurodevelopmental Disorder; Alcohol-Related Birth Defects; FAE (Fetal Alcohol Effects); FASD; Partial Fetal Alcohol Syndrome; ND-PAE; Prenatal Alcohol Exposure; fetal exposure to ethanol during pregnancy; FAS

Outcome Measures

Primary Outcomes (2)

• Facial Risk Score

  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)

  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

Study Arms (1)

All participants

All participants in the study will experience the same procedures.

Other: No intervention

Interventions

No intervention OTHER

This study does not involve any interventions.

All participants

Eligibility Criteria

• Age: 1 Month - 110 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Indiana University: lead
• National Institute on Alcohol Abuse and Alcoholism (NIAAA): collaborator

Study Sites (1)

Indiana University

Indianapolis, Indiana, 46202, United States

Location

Related Links

• The DiGFASD study web portal for enrolling in and learning about the study.

Biospecimen

Retention: SAMPLES WITH DNA

saliva whole blood

MeSH Terms

Conditions

Fetal Alcohol Spectrum Disorders

Condition Hierarchy (Ancestors)

Fetal Diseases; Pregnancy Complications; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Alcohol-Induced Disorders; Alcohol-Related Disorders; Substance-Related Disorders; Chemically-Induced Disorders

Study Officials

• Tatiana Foroud

  Indiana University

  PRINCIPAL INVESTIGATOR

• Leah Wetherill

  Indiana University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Joe C. Christian Professor of Medical & Molecular Genetics

Study Record Dates

• First Submitted: August 26, 2019
• First Posted: August 28, 2019
• Study Start: July 6, 2018
• Primary Completion: May 1, 2023
• Study Completion: May 1, 2023
• Last Updated: May 6, 2023

Record last verified: 2023-05

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: indefinite
• Access Criteria: Researchers who would like to access IPD must apply for access through the Collaborative Initiative for Fetal Alcohol Spectrum Disorders (CIFASD).

Locations

US (1)