Study of the Genetic Factors Involved in Autism and Related Disorders
Recruiting now
Conditions studied: Autism Spectrum Disorder
In brief
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.
Key facts
- Study ID
- NCT04727489
- Run by
- Institut National de la Santé Et de la Recherche Médicale, France
- People needed
- 3800
- Starts
- 2021-03-30
- Expected to finish
- 2036-03-01
- Last updated by the study team
- 2025-12-23
Who can join
Age: 2 and older, up to 70. Sex: any. Healthy volunteers: accepted.
Where it is running
- CIC, CHU Bordeaux — Bordeaux, France (enrolling)
- CRA, Hopital Charles Perrens, Bordeaux — Bordeaux, France (enrolling)
- Centre de rehabilitation psychosociale, Hopital Saint Egreve — Grenoble, Grenoble, France
- CIC, H. Mondor, Creteil — Créteil, France
- Albert Chenevier Hospital — Créteil, Île-de-France Region, France
- Robert Debré Hospital — Paris, Île-de-France Region, France
Full record on ClinicalTrials.gov
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