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Study of the Genetic Factors Involved in Autism and Related Disorders
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Summary
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 Details
Gender
All
Age Range
24 Months - 70 Years
Study Type
OBSERVATIONAL
Enrollment
3800
Start Date
2021-03-30
Completion Date
2036-03
Last Updated
2025-12-23
Healthy Volunteers
Yes
Conditions
Interventions
DNA from subjects will be stored in the biobank of our study.
Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.
Locations (6)
Centre de rehabilitation psychosociale, Hopital Saint Egreve
Grenoble, Grenoble, France
CIC, CHU Bordeaux
Bordeaux, France
CRA, Hopital Charles Perrens, Bordeaux
Bordeaux, 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