Study of the Genetic Factors Involved in Autism and Related Disorders
Condition(s) studied
Investigational drug(s) / intervention(s)
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.
Study 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.
Eligibility
Primary outcome measure(s)
- Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder — up to 12 months after completion of the inclusion and molecular explorations
Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder
Trial sites (6)
| Facility | City | Region | Status |
|---|---|---|---|
| Centre de rehabilitation psychosociale, Hopital Saint Egreve | Grenoble | Grenoble | Not Yet Recruiting |
| CIC, CHU Bordeaux | Bordeaux | France | Recruiting |
| CRA, Hopital Charles Perrens, Bordeaux | Bordeaux | France | Recruiting |
| CIC, H. Mondor, Creteil | Créteil | France | Not Yet Recruiting |
| Albert Chenevier Hospital | Créteil | Île-de-France Region | Not Yet Recruiting |
| Robert Debré Hospital | Paris | Île-de-France Region | Not Yet Recruiting |
More Institut National de la Santé Et de la Recherche Médicale, France trials in France
Other trials for the same condition
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT04727489 on ClinicalTrials.gov ↗ ← All trials in France