Ireland
--:--IST
Recruiting Observational

Study of the Genetic Factors Involved in Autism and Related Disorders

NCT04727489 · tracked via the Priya Life Science France tracker
Phase
Observational
Started
2021-03-30
Last updated
2025-12-23

Condition(s) studied

Autism Spectrum Disorder

Investigational drug(s) / intervention(s)

DNA from subjects will be stored in the biobank of our study.

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

Sex
ALL
Min age
24 Months
Max age
70 Years
Healthy volunteers
Accepted
Inclusion Criteria--------------------------------------------------------------------------------------------------- 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 Criteria -------------------------------------------------------------------------------------------------- Probands with Autism Spectrum Disorder * 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) * 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

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)

FacilityCityRegionStatus
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
Official registry record

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