Fetal Alcohol Spectrum DisordersDiGFASDNCT04072809
Dissecting the Genetics of Fetal Alcohol Spectrum Disorders
An observational study of Fetal Alcohol Spectrum Disorders, run by Indiana University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 month to 110 yearsHealthy volunteers can take part
- Conditions the study is for
- Fetal Alcohol Spectrum Disorders
- How many people
- 751 participants
- Where
- 1 siteUnited States
- Study dates
- 6 Jul 2018to 1 May 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 110 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals with FASD or prenatal alcohol exposure will be recruited throughout the world.
Who may be able to join
- Documented or suspected history of prenatal alcohol exposure OR Fetal Alcohol Spectrum Disorder (FASD) diagnosis
- Speaks English
Who cannot join
- No documented or suspected history of prenatal alcohol exposure OR FASD diagnosis
- Does not speak English
Trial locations and contacts
1 site in 1 country.
About this study
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:
Read more
- 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.
Read the 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.
- Conditions
- Fetal Alcohol Spectrum Disorders
- Being tested
- No intervention
- 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
- Medical subject headings
- Fetal Alcohol Spectrum Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
This study does not involve any interventions.
| Study group | Role | What they receive |
|---|---|---|
| All participants | All participants in the study will experience the same procedures. Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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).
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2019
- Study start6 Jul 2018
- Primary completion1 May 2023
- Study completion1 May 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fetal Alcohol Spectrum DisordersStudies of the same condition, open and under way.
- More trials run by Indiana UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 751 participants (actual)
Sponsor and investigators
- Lead sponsor
- Indiana University
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute on Alcohol Abuse and Alcoholism (NIAAA)
- Responsible party
- Principal investigator, Tatiana Foroud, Indiana University
- Investigators
- Tatiana Foroud, Principal investigator, Indiana UniversityLeah Wetherill, Principal investigator, Indiana University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04072809
- Sponsor's protocol ID
- 1801900355
- Other IDs
- U01AA026103
- Acronym
- DiGFASD
- Status last verified
- May 2023
- First submitted
- 26 Aug 2019
- Last updated
- 6 May 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dissecting the Genetics of Fetal Alcohol Spectrum Disorders
- ClinicalTrials.gov ID
- NCT04072809
- Acronym / sponsor ID
- DiGFASD / 1801900355
- 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
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 751 participants (actual)
- Lead sponsor
- Indiana UniversityUniversity, hospital or other
- Collaborators
- National Institute on Alcohol Abuse and Alcoholism (NIAAA)
- Study start
- 6 Jul 2018 (actual)
- Primary completion
- 1 May 2023 (actual)
- Study completion
- 1 May 2023 (actual)
- First posted
- 28 Aug 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| All participants | – | Other: No interventionAll participants in the study will experience the same procedures. |
Who may qualify
- Ages
- 1 month to 110 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with FASD or prenatal alcohol exposure will be recruited throughout the world.
Key inclusion criteria (2 listed)
- Documented or suspected history of prenatal alcohol exposure OR Fetal Alcohol Spectrum Disorder (FASD) diagnosis
- Speaks English
Key exclusion criteria (2 listed)
- No documented or suspected history of prenatal alcohol exposure OR FASD diagnosis
- Does not speak English
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionThis study does not involve any interventions. | Other | All participants |
Primary outcome
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.
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).
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2023.
- The DiGFASD study web portal for enrolling in and learning about the study.Link provided by the sponsor.
- Individual participant dataSharing planned: Yes. 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.
Related trials for Fetal Alcohol Spectrum Disorders
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
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Trigeminal Nerve Stimulation for Children With Prenatal Alcohol Exposure
Fetal Alcohol Spectrum Disorders, Attention Deficit Hyperactivity Disorder
Not yet recruitingPhase 2
FASD Prevention R33
Alcohol and Tobacco/Cannabis Use
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Families Moving Forward (FMF) Connect Pro for Mental Health Providers
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Recruiting
The Synchrony Study: Examining Music Training for Children With FASD
Fetal Alcohol Spectrum Disorders
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tatiana Foroud principal investigator
Indiana University
Leah Wetherill principal investigator
Indiana University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fetal Alcohol Spectrum Disorders, run by Indiana University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 May 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Facial Risk Score (time frame: through study completion, an average of 1 year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2023.