Study of the Genetic Factors Involved in Autism and Related Disorders

The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development. For this purpose the investigators will take advantage of large, well-characterized cohorts of patients with Autism Spectrum Disorder for genetic screenings. Targeted sequencing of selected synaptic genes, previously associated with Autism Spectrum Disorder, will be carried out in these cohorts with deep coverage of coding regions and a strong focus on previously untested regulatory regions. Genomic data from Copy Number Variant, whole genome sequencing and exome sequencing, available for some of these patients, will be integrated in the overall analysis. The investigators will strongly emphasize the establishment of comprehensive genotype/phenotype correlations.

NCT Number	NCT04727489
Lead Sponsor	Institut National de la Santé Et de la Recherche Médicale, France
Conditions	Autism Spectrum Disorder
Enrollment	3,800 participants
Start Date	2021-03-30
Primary Completion	2036-03 (estimated)
Study Completion	2036-03 (estimated)
Updated on ClinicalTrials.gov	2025-12-23