Actively Recruiting
Study of the Genetic Factors Involved in Autism and Related Disorders
Led by Institut National de la Santé Et de la Recherche Médicale, France · Updated on 2025-12-23
3800
Participants Needed
6
Research Sites
778 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Study of the Genetic Factors Involved in Autism and Related Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Probands with Autism Spectrum Disorder meeting DSM-5 criteria and confirmed by ADI-R and ADOS-2 diagnostic tools
- At least 24 months old (no upper age limit)
- Physical and intellectual health compatible with blood testing
- Affiliation to social insurance
- Signed informed consent by participant or guardian if minor or under guardianship
- Control participants at least 24 months old with compatible health and social insurance affiliation
- Signed informed consent for controls or their guardians
- Relatives of probands or controls at least 24 months old with compatible health and social insurance
- Signed informed consent for relatives or their guardians
You will not qualify if you...
- Severe intellectual disability (IQ ≤ 35 or developmental age under 18 months) in probands with Autism Spectrum Disorder
- Personal psychiatric history including schizophrenia, bipolar disorder, substance use disorder (except tobacco), recurrent depression, or severe unstable anxiety
- Personal neurologic history including epilepsy or severe neurological disease
- Medical conditions in relatives or controls that are psychiatric or somatic and incompatible with study inclusion
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 6 locations
1
Centre de rehabilitation psychosociale, Hopital Saint Egreve
Grenoble, Grenoble, France
Not Yet Recruiting
2
CIC, CHU Bordeaux
Bordeaux, France
Actively Recruiting
3
CRA, Hopital Charles Perrens, Bordeaux
Bordeaux, France
Actively Recruiting
4
CIC, H. Mondor, Creteil
Créteil, France
Not Yet Recruiting
5
Albert Chenevier Hospital
Créteil, Île-de-France Region, France, 94000
Not Yet Recruiting
6
Robert Debré Hospital
Paris, Île-de-France Region, France, 75019
Not Yet Recruiting
Research Team
R
Richard Delorme, M.D, Ph.D
CONTACT
M
Marion Leboyer, M.D, Ph.D
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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