Autism Spectrum Disorder (ASD
Conditions
Keywords
ASD, organoid
Brief summary
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder affecting approximately 1% of the population, characterized by difficulties with social interaction and communication. Studies have identified more than 200 genes linked to ASD, particularly those involved in chromatin remodeling and synaptic neuronal connectivity (CHD8, SCN2A, NLGN3-4X, SHANK1-3). The goal of the project is to decipher the biological mechanisms underlying ASD in order to develop therapeutic strategies, using innovative preclinical models such as organoids.
Detailed description
Each participant's involvement in this study is limited to one visit. This study requires only a blood draw (5 to 30 minutes), which will be performed at the CIC at Robert-Debré, and the completion of questionnaires for parents (SRS) and unaffected siblings (SRS, ADHD-RS, SDQ). Additional tests or questionnaires may be offered at a later stage if clinically necessary.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
* A child diagnosed with an autism spectrum disorder in accordance with clinical practice guidelines * A sibling without an autism spectrum disorder (SRS \< 65) * Biological parents * Children and parents must be enrolled in a social security program, Universal Health Coverage (CMU), or an equivalent program.
Exclusion criteria
* Refusal to undergo a blood test * Uncontrolled (unstabilized) medical condition (including psychiatric conditions) that precludes participation in the study * Sibling with an SRS score \> 65 at screening or under 2 years old
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Production of organoïds | 2 years | To study the cellular mechanisms affected by the presence of the abnormalities identified in the participant with ASD |
Countries
France