Clinical trial NCT06471335: Fetal Alcohol Spectrum Disorder : Clinical Description and Search for Epigenetic Biomarker (EPI-TSAF)
Official title: Fetal Alcohol Spectrum Disorder (FASD): Clinical Description and Search for Epigenetic Biomarkers for Diagnostic Purposes.
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Fetal Alcohol Spectrum Disorders
Keywords: Fetal Alcohol Spectrum Disorders
epigenetic
microRNA
Lead sponsor: Centre Hospitalier Universitaire de la Réunion
Sponsor class: OTHER
First posted: 2024-06-24
Enrollment: 188
Sex: ALL
Minimum age (years): 1
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Intervention model description: This research is descriptive and monocentric research.

* retrospective on the clinical description of the 182 Fetal Alcohol Spectrum Disorder patients
* prospective on the microRNAs part with 18 patients in Fetal Alcohol Spectrum Disorder group and 18 people in the control group
Primary purpose: DIAGNOSTIC

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.


Eligibility criteria: 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

Primary outcomes:
measure: Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part 1)
timeFrame: 6 months
measure: Clinical description of a series of Fetal Alcohol Spectrum Disorder patients from Reunion Island (part2)
timeFrame: 6 months
Secondary outcomes:
Other outcomes:
Locations:
city: St Denis
country: France
facility: CHU de la Réunion
Study officials:
References: