Development of an Epigenetic Biomarker for Prediction of Fetal Alcohol Spectrum Disorder

The objective of the study is to validate epigenetic changes as biomarkers in a prospective sampling of newborn blood samples collected at birth (umbilical cord blood) and during routine screening (heel stick blood) in newborns concurrently tested for alcohol exposure levels by PEth blood spot testing.

Study Overview

• Status: Active, not recruiting
• Conditions: Fetal Alcohol Spectrum Disorders

Detailed Description

Fetal alcohol spectrum disorders (FASD) are a group of conditions that can occur in a person whose birth mother consumed alcohol during pregnancy. The effects can include physical problems and/or difficulties with behavior and learning. When clinicians identify FASD early, intervention approaches can minimize the potential impact and lessen or even prevent disabilities. Thus, objective markers for prenatal alcohol exposure are desired.

Using dried blood spots from the umbilical cord and a heel stick of newborns, this study will use Phosphatidylethanol (PEth), a novel biomarker for alcohol exposure, to identify and characterize infants' exposure to alcohol before birth. Additionally, the dried blood spots will used to validate the use of screening assays using epigenetic changes as markers for prenatal alcohol exposure. Epigenetic changes are heritable changes in DNA that affect DNA function but do not change DNA sequence. The use of PEth testing will allow for the correlation of prenatal alcohol exposure levels with epigenetic changes. Women will be consented prior to delivery for participation in this prospective study. The study will be conducted in collaboration with United States Drug Testing Laboratories, Inc. (USDTL).

• Study Type: Observational
• Enrollment (Actual): 600

Contacts and Locations

Study Locations

• United States
  • West Virginia
    • Charleston, West Virginia, United States, 25302
      • CAMC - Women and Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Women will be consented for study participation of their neonates prior to delivery.

Description

Women:

Inclusion criteria

• Women aged ≥ 18 years and currently pregnant at time of enrollment
• Women who plan to and then deliver their infants at CAMC Women and Children's Hospital

Exclusion criteria

• Women aged < 18 years
• Women not pregnant
• Women who do not plan to deliver or did not end up delivering their infants at CAMC Women and Children's Hospital

Infants:

Inclusion criteria

• Birth mother was consented prior to delivery
• Live birth at CAMC Women and Children's Hospital

Exclusion criteria

• Birth mother was NOT consented prior to delivery
• Stillborn

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Newborn infants; Neonates born from consented women at the study hospital

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Epigenetic changes as biomarkers of prenatal alcohol exposure	Validation of the epigenetic changes as biomarkers of newborn blood samples collected at birth (umbilical cord blood) and during routine screening (heel stick blood) in newborns concurrently tested for alcohol exposure levels by PEth blood spot testing.	48 hours post birth

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Optimal timing to obtain samples from neonates for prenatal alcohol detection	To compare PEth levels and epigenetic changes in dried blood spots obtained via umbilical cord at birth verses heel stick at 48 hours post-birth.	48 hours post birth

Other Outcome Measures

Outcome Measure	Time Frame
Gestational age at birth	at birth
Small for gestational age: composite of small for gestational age (<10% percentile) for weight or length or head circumference	at birth
Postnatal complications: Composite of having one or more of the following: neonatal sepsis, necrotizing enterocolitis, respiratory distress syndrome, hyperbilirubinemia, intraventricular hemorrhage	28 days post birth

Collaborators and Investigators

• Sponsor: CAMC Health System
• Collaborators: United States Drug Testing Laboratories, Inc.
• Investigators: Principal Investigator: Stefan Maxwell, MD, CAMC Women and Children's Hospital

Study record dates

Study Major Dates

• Study Start (Actual): April 12, 2018
• Primary Completion (Anticipated): December 31, 2022
• Study Completion (Anticipated): December 31, 2022

Study Registration Dates

• First Submitted: March 23, 2018
• First Submitted That Met QC Criteria: April 4, 2018
• First Posted (Actual): April 11, 2018

Study Record Updates

• Last Update Posted (Actual): September 2, 2022
• Last Update Submitted That Met QC Criteria: September 1, 2022
• Last Verified: September 1, 2022

More Information

Terms related to this study

• Keywords: Prenatal alcohol exposure
• Additional Relevant MeSH Terms: Chemically-Induced Disorders; Alcohol-Related Disorders; Substance-Related Disorders; Fetal Diseases; Pregnancy Complications; Alcohol-Induced Disorders; Fetal Alcohol Spectrum Disorders
• Other Study ID Numbers: 17-388

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No