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

Centre Hospitalier Universitaire de la Réunion

Status: Completed

Conditions: Fetal Alcohol Spectrum Disorders

Treatments: 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

Funder types: Other

Identifiers

NCT06471335

2024-A00029-38

Details and patient eligibility

About

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.

Enrollment: 188 patients

Sex: All

Ages: 1 to 18 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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188 participants in 2 patient groups

Patients Fetal Alcohol Spectrum Disorder

Experimental group

Description:

Patients with Fetal Alcohol Spectrum Disorder, male an female, aged 0 to 18 inclusive.

Treatment:

Diagnostic Test: Extraction of microRNAs extracted from bucal swabs (act added for research).

Diagnostic Test: Extraction of microRNAs extracted from plasma (4 ml recovered as part of treatment)

Participants without Fetal Alcohol Spectrum Disorder

Active Comparator group

Description:

Participants without Fetal Alcohol Spectrum Disorder, male an female, aged 0 to 18 inclusive.

Treatment:

Diagnostic Test: Extraction of microRNAs extracted from bucal swabs (act added for research).