Fact CheckerSign in

NCT07311213Not yet recruiting

GENES AND AUTISM - Induced Pluripotent Stem Cells

EXPLORATIONS CELLULAIRES - CELLULES PLURIPOTENTES INDUITES DES SUJETS PRESENTANT UN TSA, DE LEURS APPARENTES, ET DE TEMOINS

Source: ClinicalTrials.gov · Last updated 25 Sept 2026

Brief summary (registry, in English)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and verbal and non-verbal communication (DSM-5, 2013), affecting approximately 2% of the general population. In 5 to 40% of cases, genetic factors are identified as the cause of these disorders, with prevalence depending on the technique used (exomes and/or SNP arrays) and the associated intellectual deficit. In the majority of cases, the etiology remains unknown. Studies of microdeletions/microduplications (copy number variants) or Whole Exome Sequencing and Whole Genome Sequencing (Single Nucleotide Variants) show the involvement of numerous genes in the predisposition to autism. ASD remains a genetically heterogeneous disorder, as more than 250 genes have been associated with ASD to date. The main objective of the project is to continue identifying genetic factors, and also to understand the biological mechanisms involved in the emergence of autistic symptoms. Identifying biological pathways is an essential step in developing new therapeutic strategies. In addition, one of the major challenges of this study is to better understand the phenotype/genotype relationships in ASD. This requires in-depth knowledge of the phenotypic characteristics of participants with ASD and their families, as well as neurotypical populations. This study combines the scientific expertise of researchers specializing in molecular biology, phenotypic exploration (clinical, cognitive, MRI, EEG, biochemistry, immunology), and the use of pre-therapeutic cellular models (iPSCs, neural precursors, organoids). The objective of this work is the identification of numerous genes associated with ASD and involved in synaptic formation and regulation: NLGN3-4, SHANK1 and SHANK3, CNTN-6, and CNTNAP4. This work was combined with in-depth phenotypic explorations of ASD participants and their relatives. It has made it possible to clarify the neuroanatomical characteristics of participants with ASD and their genetic substrate, as well as the underlying cognitive processes. All of this work opens up new prospects for identifying new therapeutic targets using preclinical cell models (IPSCs Induced pluripotent stem cells, neural progenitors, organoids) developed in particular by I-Stem and Human Technopole.

Status (registry)
Not yet recruiting
Study type
Interventional
Enrollment
450 (estimated)
First submitted
16 Dec 2025
Start date
1 Dec 2026
Primary completion date
1 Feb 2041
Lead sponsor
Institut National de la Santé Et de la Recherche Médicale, France
Diseases
Autism
NCT number
NCT07311213

What you commit to

  • Study type: Interventional
  • Planned participants: 450
  • From 1 Dec 2026 to the primary completion date, 1 Feb 2041
  • 1 site 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.

Age

  • For all participants
    • 1\) Refusal to have a blood test
    • 2\) Medical illness (including psychiatric disorder) not yet fully stabilised and making participation in the study impossible
    • 3\) Person subject to a mesure of lagal protection
    • 4\) Known serology : VIH+ or VBH+ or VCH+
    • As a reminder : exclusion criteria C07-33
    • 1\) For all participants : Severe Intelectual Deficiency (IQ,35 or developmental age \<18 months)
    • 2\) Controls : Neurological or psychiatric history other than mental retardation
    • o Psychiatric history, except for mental retardation, assessed using the DIGS (Diagnostic Interview for Genetic Studies, Nurnberger et al., 1994) for adults or the Kiddie-SADS (Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children, Orvaschel et al., 1982)
    • o History of epileptic episodes
    • o Immunosuppressive treatment or known immunoinflammatory disease
    • →As a reminder : exclusion criteria C16-89
    • 1\) Probands with Autism Spectrum Disorder
    • o Severe intellectual disability (IQ\<35 or developmental age \<18 months)
    • 2\) Controls (neurotypical development)
    • o Identified intellectual disorder or cognitive developmental disorder
    • Personal psychiatric history of schizophrenia, bipolar disorder, substance use disorders (except tobacco), recurrent depression (\>2 episodes, lifetime), severe unstabilized anxiety disorder
    • History of epilepsy episodes or severe neurological disease
    • 3\) Relatives of the TSA applicants or controls
    • Medical condition (psychiatric or somatic) not compatible with inclusion

Who the study is looking for

  • ● For all participants :
  • 1\) Be Included in the "Genes and Autism" protocol (C07-33 or C16-89).
  • 2\) Affiliated to the social insurance, Universal Health Coverage or any equivalent system.
    • →As a Reminder : C07-33 inclusion criteria
    • ● Participants with ASD.
  • 1\) Autistic patients must meet the diagnostic criteria of DSM-IV \[American Psychiatric Association, 1994\] and the criteria of ADI-R (Autism Diagnostic Interview-Revised, Lord et al., 1994) and ADOS for autism.
    • ..Or.. Patients with Asperger's syndrome must meet the DSM-IV criteria as well as the ASDI criteria for Asperger's syndrome (Asperger Syndrome Diagnostic Interview, Gillberg et al., 2001) and the ADOS for autism spectrum disorders.
    • ..Or.. Patients with ASD must meet diagnostic criteria of DSM-IV and ADOS criteria for autism spectrum disorders
  • 2\) Be at least 2 years old, with no upper age limit
  • 3\) Somatic state compatible with blood test
    • ● Adult controls and adult relatives of controls
  • 1\) Be between 18 and 65 years old
  • 2\) Somatic and intellectual state compatible with blood test
    • ● Controls with mental retardation
  • 1\) Minimum age of 2 yearsIQ \< 70Child controls
  • 2\) Minimum age of 2 years
    • →As a Reminder : inclusion criteria C16-89
    • ● Probands with ASD
  • 1\) Meet the diagnostic criteria for ASD of the of DSM-5 \[American Psychiatric Association, 2012\]. The diagnosis will be based on a consensus between the clinical expertise of expert clinicians, the scores of the Autism Diagnostic Interview-Revised (ADI-R) (Lord et al, 2003) and those of the Autism Diagnosis Observational Scale (ADOS-2) (Lord et al, 1994)
  • 2\) Be at least 24 months old with no upper age limit
  • 3\) Somatic state compatible with a blood test
  • 4\) Affiliation to the Social Insurance
  • 5\) Signature of informed consent by the applicant or by the holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship
    • ● Controls wihout ASD
  • 1\) At least 24 months old
  • 2\) Somatic and Intellectual state compatible with a blood test
  • 3\) Affiliation in the Social Insurance
  • 4\) 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
  • 1\) At least 24 months old
  • 2\) Somatic and intellectual state compatible with blood test
  • 3\) Affiliation to the Social Insurance
  • 4\) Signature of informed consent by the subject or by the holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship

Age in the registry: 2 years to - · Sex: All · Accepts healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (1)

Sites in registry order. Pick your city on the disease page to sort them by distance.

SiteCityCountrySite status
Hopital Robert Debre
Coordinator of this site? Confirm its status
ParisFranceUnknown status

This page is information, not medical advice. Discuss any trial with your doctor.