NCT04727489Recruiting
Study of the Genetic Factors Involved in Autism and Related Disorders
Source: ClinicalTrials.gov · Last updated 23 Dec 2025
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 3800 (estimated)
- First submitted
- 20 Jan 2021
- Start date
- 30 Mar 2021
- Primary completion date
- 31 Mar 2036
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
- Diseases
- Autism
- NCT number
- NCT04727489
What you commit to
- Study type: Observational
- Planned participants: 3800
- From 30 Mar 2021 to the primary completion date, 31 Mar 2036
- 6 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Probands with Autism Spectrum Disorder
- Personal neurologic history (epilepsy, or severe neurological disease)
- Relatives of the probands with ASD, of the controls or the controls:
- ● Medical condition (psychiatric or somatic) not compatible with the inclusion
Age
- Severe Intelectual Deficiency (IQ,35 or developmental age \<18 months)
- ●. Personal psychiatric history (schizophrenia, bipolar disorder, substance use disorder (except tobacco), recurrent depression disorder, severe instable anxiety disorder)
Who the study is looking for
- Probands with Autism Spectrum Disorder
- Meet the diagnostic criteria for ASD of the DSM-5 \[American Psychiatric Association, 2013\] based on a consensus between the clinical expertise of expert clinicians, the scores of the Autism Diagnostic Interview-Revised (ADI-R) (Rutter et al, 2003) and those of the Autism Diagnosis Observation Schedule (ADOS-2) (Lord et al, 2012)
- Be at least 24 months (no upper age limit)
- Somatic and Intellectual state compatible with a blood test
- Affiliation to the social insurance
- Signature of informed consent by the applicant or by holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship
- Controls without ASD
- At least 24 months old
- Somatic and Intellectual state compatible with a blood test
- Affiliation to the social insurance
- Signature of informed consent by the subject or by holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship
- Relatives of the probands with ASD or of controls without ASD
- At least 24 months old
- Somatic and Intellectual state compatible with a blood test
- Affiliation to the social insurance
- Signature of informed consent by the subject or by holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship
Age in the registry: 24 months to 70 years · Sex: All · Accepts healthy volunteers
Sites (6)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| CRA, Hopital Charles Perrens, Bordeaux Coordinator of this site? Confirm its status | Bordeaux | France | Recruiting |
| CIC, CHU Bordeaux Coordinator of this site? Confirm its status | Bordeaux | France | Recruiting |
| CIC, H. Mondor, Creteil Coordinator of this site? Confirm its status | Créteil | France | Not yet recruiting |
| Albert Chenevier Hospital Coordinator of this site? Confirm its status | Créteil | France | Not yet recruiting |
| Centre de rehabilitation psychosociale, Hopital Saint Egreve Coordinator of this site? Confirm its status | Grenoble | France | Not yet recruiting |
| Robert Debre hospital Coordinator of this site? Confirm its status | Paris | France | Not yet recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.