GENES AND AUTISM - IPSC

NCT07311213 | Not Yet Recruiting

• 1 other identifier: C22-14
• Study Type: interventional
• Target: 450
• Locations: 0 countries
• Sites: N/A

Brief Summary

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 aetiology 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 ASD participants 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 objectif 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 ASD participants 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 (IPS, neural progenitors, organoids) developed in particular by I-Stem and Human Technopole.

Conditions

Autism Disorder; ASD

Keywords

Autism, Genes, Phenotype, Complex Heritability

Outcome Measures

Primary Outcomes (1)

• Isolation of peripheral blood mononuclear cells (PBMCs)

  Blood sample to be taken from individuals with ASD, a population of relatives, and a population of controls.

  Inclusion visit

Study Arms (3)

Probands with Autism Spectrum Disorder, (N=200).

OTHER

All subjects included in this study will be drawn from the population of subjects already included in the studies entitled 'Genes and Autism' promoted by Inserm (NCT02628808/C07-33 and NCT04727489/C16-89). Patients are diagnosis ASD according to DSM-V criteria and carry genetic variations known to be associated with autism (whether rare or common).

Other: Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs)

Controls without Autism Spectrum Disorder

OTHER

At least, 24 months old (N=150) All subjects included in this study will be drawn from the population of subjects already included in the studies entitled 'Genes and Autism' promoted by Inserm (NCT02628808/C07-33 and NCT04727489/C16-89).

Other: Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs)

Relatives of the probands with ASD

OTHER

Adult relatives of controls with ASD (N=100) All subjects included in this study will be drawn from the population of subjects already included in the studies entitled 'Genes and Autism' promoted by Inserm (NCT02628808/C07-33 and NCT04727489/C16-89).

Other: Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs)

Interventions

Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs) OTHER

Participation in this study requires a single visit per participant. This study only requires a blood sample (5 to 30 minutes) to be taken at the CIC at Robert-Debré Hospital, Paris 19th arrondissement. This blood sample will enable the isolation of peripheral blood mononuclear cells (PBMCs). HIV, HCV and HBV serology will also be performed.

Controls without Autism Spectrum Disorder; Probands with Autism Spectrum Disorder, (N=200).; Relatives of the probands with ASD

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• ● For all participants :
• \) Be Included in the "Genes and Autism" protocol (C07-33 or C16-89).
• \) Affiliated to the social insurance, Universal Health Coverage or any equivalent system.
• ● Participants with ASD.
• \) 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
• \) Be at least 2 years old, with no upper age limit
• \) Somatic state compatible with blood test
• ● Adult controls and adult relatives of controls
• \) Be between 18 and 65 years old
• \) Somatic and intellectual state compatible with blood test
• ● Controls with mental retardation
• \) Minimum age of 2 yearsIQ \< 70Child controls
• \) Minimum age of 2 years

You may not qualify if:

• For all participants
• \) Refusal to have a blood test
• \) Medical illness (including psychiatric disorder) not yet fully stabilised and making participation in the study impossible
• \) Person subject to a mesure of lagal protection
• \) Known serology : VIH+ or VBH+ or VCH+
• \) For all participants : Severe Intelectual Deficiency (IQ,35 or developmental age \<18 months)
• \) 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
• \) Probands with Autism Spectrum Disorder
• o Severe intellectual disability (IQ\<35 or developmental age \<18 months)
• \) 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

Sponsors & Collaborators

• APHP: collaborator
• Institut National de la Santé Et de la Recherche Médicale, France: lead
• Institut Pasteur: collaborator

Related Links

• Related Info

MeSH Terms

Conditions

Autistic Disorder

Condition Hierarchy (Ancestors)

Autism Spectrum Disorder; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Thomas Pr Bourgeron, Professor

  Institut Pasteur

  STUDY DIRECTOR

Central Study Contacts

Richard Pr DELORME, Professor

CONTACT

0033140034130; richard.delorme@rdb.aphp.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 16, 2025
• First Posted: December 30, 2025
• Study Start: February 1, 2026
• Primary Completion (Estimated): February 1, 2041
• Study Completion (Estimated): February 1, 2041
• Last Updated: December 30, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share