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

Not Applicable

Completed

• Conditions: Fetal Alcohol Spectrum Disorders
• Interventions: 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).

• Registration Number: NCT06471335
• Lead Sponsor: Centre Hospitalier Universitaire de la Réunion

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2024-06-12
• Study First Submitted: 2024-06-17
• Study First Submitted QC: 2024-06-21
• Study First Posted: 2024-06-24
• Primary Completion: 2024-10-22
• Study Completion: 2024-10-23
• Status Verified: 2025-02
• Last Update Submitted: 2025-02-11
• Last Update Posted: 2025-02-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 188

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Patients Fetal Alcohol Spectrum Disorder	Extraction of microRNAs extracted from bucal swabs (act added for research).	Patients with Fetal Alcohol Spectrum Disorder, male an female, aged 0 to 18 inclusive.
Patients Fetal Alcohol Spectrum Disorder	Extraction of microRNAs extracted from plasma (4 ml recovered as part of treatment)	Patients with Fetal Alcohol Spectrum Disorder, male an female, aged 0 to 18 inclusive.
Participants without Fetal Alcohol Spectrum Disorder	Extraction of microRNAs extracted from bucal swabs (act added for research).	Participants without Fetal Alcohol Spectrum Disorder, male an female, aged 0 to 18 inclusive.

Primary Outcome Measures

Name	Time	Method
Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part 1)	6 months	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)
Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part2)	6 months	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)

Trial Locations

Locations (1)

CHU de la Réunion; 🇫🇷 St Denis, France