Exploring the Physiological Mechanisms of Austism Through Organoids
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Autism Spectrum Disorder (ASD. Basic parameters: from 2 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Exploring the Physiologicla Mechainisms of Austism Through Organoids Derived Differentiated Cells of Individuals With Autism
Overview
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.
Primary outcome measures
- Production of organoïds [Time frame: 2 years]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Robert Debré Hospital — Paris
Identifiers
NCT: NCT07494331 · APHP250983 · 2025-A01511-48