Fetal Alcohol Spectrum Disorder : Clinical Description and Search for Epigenetic Biomarker (EPI-TSAF) (EPI-TSAF)

Fetal Alcohol Spectrum Disorder (FASD): Clinical Description and Search for Epigenetic Biomarkers for Diagnostic Purposes.

The goal of this clinical trial is to carry out a clinical description of a Reunionese series of patients (aged 0 to 18 inclusive) with Fetal Alcohol Spectrum Disorders followed up in the Genetics Department of the University Hospital in Reunion Island The aim is also to identify a specific "epigenetic signature" for Fetal Alcohol Spectrum Disorder, in order to provide early diagnostic markers, determine the origin of the microRNAs identified and study the phenotypic-epigenetic relationship (microRNAs).

This research is descriptive and monocentric.

• retrospective on the clinical description of 182 Fetal Alcohol Spectrum Disorderpatients
• prospective on the microRNAs part, with 18 patients in the Fetal Alcohol Spectrum Disorder group and 18 in the control group (participants without Fetal Alcohol Spectrum Disorder).

For the 18 patients in the Fetal Alcohol Spectrum Disorder group, the doctor will take a blood sample (for genetic testing) during a scheduled consultation. A remaining 4 ml of blood will be collected for research purposes (Fetal Alcohol Spectrum Disorder group only). A buccal smear will also be taken for research.

For the 18 participants in the control group (healthy participants of the same age and sex as the Fetal Alcohol Spectrum Disorder group), only a buccal smear will be taken for research purposes during a consultation.

Study Overview

• Status: Completed
• Conditions: Fetal Alcohol Spectrum Disorders
• Intervention / Treatment: Diagnostic test: Extraction of microRNAs extracted from plasma (4 ml recovered as part of treatment); Diagnostic test: Extraction of microRNAs extracted from bucal swabs (act added for research).

• Study Type: Interventional
• Enrollment (Actual): 188
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Saint-Denis, France, 97400
    • CHU de la réunion

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

Fetal Alcohol Spectrum Disorder group :

• born in Reunion
• aged between 0 and 18 years old
• Having been exposed to alcohol during the prenatal period
• Have a diagnosis of Fetal Alcohol Spectrum Disorder by a referring physician

Control group :

• born in Réunion
• aged between 0 and 18 years old
• Be matched on the age and sex of the Fetal Alcohol Spectrum Disorder children sampled (n=18)
• Not having been exposed to alcohol during the prenatal period
• Not having been diagnosed with FASD
• Not have congenital malformations
• Not have neurodevelopmental disorders

Exclusion Criteria:

Fetal Alcohol Spectrum Disorder group :

• patients with Fetal Alcohol Spectrum Disorder who also present another genetic syndrome.

Control group :

- people who are not matched on the age and sex of the Fetal Alcohol Spectrum Disorder patients sampled

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Patients Fetal Alcohol Spectrum Disorder; Patients with Fetal Alcohol Spectrum Disorder, male an female, aged 0 to 18 inclusive.	Diagnostic test: Extraction of microRNAs extracted from plasma (4 ml recovered as part of treatment); Comparison of these micro RNAs with the micro RNAs extracted from oral swabs (in Fetal Alcohol Spectrum Disorder group); Diagnostic test: Extraction of microRNAs extracted from bucal swabs (act added for research).; Comparison of the microRNAs extracted from the oral swabs of the Fetal Alcohol Spectrum Disorder group with the microRNAs extracted from the oral swabs of the without Fetal Alcohol Spectrum Disorder group
Active Comparator: Participants without Fetal Alcohol Spectrum Disorder; Participants without Fetal Alcohol Spectrum Disorder, male an female, aged 0 to 18 inclusive.	Diagnostic test: Extraction of microRNAs extracted from bucal swabs (act added for research).; Comparison of the microRNAs extracted from the oral swabs of the Fetal Alcohol Spectrum Disorder group with the microRNAs extracted from the oral swabs of the without Fetal Alcohol Spectrum Disorder group

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part 1)	Description of : maternal alcohol consumption in the prenatal period and paternal alcohol consumption in the preconception period :; duration (in month); type (Beer, wine, strong alcohol, Multiple); frequency (DAILY/ WEEK/ WEEKEND/ FESTIVAL-OCCASIONAL/ SINGLE EPISODE ); stage of exposure (Trimester : 1/2/ ≤ 2 /3/≤ 3); other associated toxicants : tobacco, cannabis, medications (Yes/ no/ suspicion); the course of the pregnancy and childbirth :; age of the mother (in years); term of delivery (FULL-TERM/ MEDIUM PREMATURITY/ HIGH PREMATURITY/ VERY HIGH PREMATURITY); trimester of discovery of the pregnancy (trimester : 1, 2, 3); socio-family data; family situation (ADOPTION/ MOTHER/ PARENTS/ FATHER); type of placement (FOSTER FAMILY/ HOME/ ADOPTIVE FAMILY/ THIRD PARTY/ NURSERY); age of placement (in years)	6 months
Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part2)	Description of : data from the medical and genetic assessment; congenital malformations (Yes/ No); hearing assessment (Normal/ abnormal),; Chromosome analysis on a DNA chip (Normal/ abnormal),; fragile X (Normal/ abnormal); data from the neuropsychological and psychomotor assessment; psychomotor delay (Yes/ No); motor impairments (Yes/ No); intellectual disability (Yes/ No) (IQ Value); cognitive impairments (VERY WEAK/ LIMITED/ MEDIUM WEAK/ MEDIUM/ MEDIUM STRONG/ SUPERIOR/ VERY SUPERIOR); oral language, executive functions, behavioral abnormalities (alter/preserve),; data from paraclinical examinations :; kidney ultrasound, cardiac ultrasound, Magnetic Resonance Imaging (Nomal/ Abnormal)	6 months

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de la Réunion

Study record dates

Study Major Dates

• Study Start (Actual): June 12, 2024
• Primary Completion (Actual): October 22, 2024
• Study Completion (Actual): October 23, 2024

Study Registration Dates

• First Submitted: June 17, 2024
• First Submitted That Met QC Criteria: June 21, 2024
• First Posted (Actual): June 24, 2024

Study Record Updates

• Last Update Posted (Actual): January 20, 2026
• Last Update Submitted That Met QC Criteria: January 16, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: microRNA; epigenetic; Fetal Alcohol Spectrum Disorders
• Additional Relevant MeSH Terms: Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Pregnancy Complications; Fetal Diseases; Substance-Related Disorders; Chemically-Induced Disorders; Alcohol-Related Disorders; Alcohol-Induced Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Fetal Alcohol Spectrum Disorders
• Other Study ID Numbers: 2024-A00029-38

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
• product manufactured in and exported from the U.S.: No