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RECRUITING
NCT04727489

Study of the Genetic Factors Involved in Autism and Related Disorders

Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

View on ClinicalTrials.gov

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

Interventions

GENETIC

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