Fetal Alcohol Spectrum Disorder : Clinical Description and Search for Epigenetic Biomarker (EPI-TSAF)
NCT Number: NCT06471335
Acronym: EPI-TSAF
Status: RECRUITING
Study Type: INTERVENTIONAL
Phases: NA
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).
Sponsor: Centre Hospitalier Universitaire de la Réunion
Sex: ALL
Age: CHILD, ADULT
Enrollment: 200
Study Design: Allocation: NON_RANDOMIZED|Intervention Model: PARALLEL|Masking: NONE|Primary Purpose: DIAGNOSTIC
Start Date: 2024-06-12
Completion Date: 2024-12-31
Locations: CHU de la Réunion, St Denis, 97400, France

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.

Primary Outcome Measures: 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