Studying genetic factors in autism spectrum disorder using stored DNA samples
Studies genes in people with autism spectrum disorder using stored DNA.
Plain-language title generated from the registry record
Registry title: Study of the Genetic Factors Involved in Autism and Related Disorders
Key facts
- Where
- Bordeaux, Créteil, Grenoble, and Paris, FranceSee the 6 sites
Where in France
- CIC, CHU BordeauxBordeaux, FranceTaking people
- CRA, Hopital Charles Perrens, BordeauxBordeaux, FranceTaking people
- Albert Chenevier HospitalCréteil, FranceNot yet recruiting
- CIC, H. Mondor, CreteilCréteil, FranceNot yet recruiting
- Centre de rehabilitation psychosociale, Hopital Saint EgreveGrenoble, FranceNot yet recruiting
- Robert Debre hospitalParis, FranceNot yet recruiting
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Institut National de la Santé Et de la Recherche Médicale, France
- Trial code
- NCT04727489
- Record updated
- 23 December 2025
- Original description
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.Read full original descriptionShow less
Study of the Genetic Factors Involved in Autism and Related Disorders
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.
Inclusion: 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.
Exclusion: 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; 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).