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Not yet recruitingNCT07311213IPSCUpdated Sep 25, 2026

GENES AND AUTISM - Induced Pluripotent Stem Cells

An interventional study of Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs) in Autism Disorder and ASD, sponsored by Institut National de la Santé Et de la Recherche Médicale, France. Not yet recruiting at 1 site in France. Open to participants aged 2 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-09-25.

Sponsored by Institut National de la Santé Et de la Recherche Médicale, France · Not applicable, Interventional, and Diagnostic

Updated Sep 25, 2026Start date movedGo to Updates ↓
Phase
Not applicable
Study type
Interventional
Enrollment
450
Allocation
Non-randomized
Ages
2 Years and older
Sex
All
01

Study 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 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.

Read the detailed description
  • Aim 1 : To clarify the biological mechanisms associated with genetic variations identified in participants with ASD by studying dedifferentiated cells transformed into induced neurons or organoids. This objective will be achieved using a population of individuals with ASD, a population of relatives and a population of controls.
  • Aim 2 : To study the cellular mechanisms affected by the presence of abnormalities identified in participants with ASD. The use of pluripotent cells differentiated into neurons or organoids is a major tool for understanding the pathophysiology of cell development and pathways in autism. These derived neurons are an indispensable proxy for the biological understanding of ASD.
  • Aim 3 : To identify new therapeutic approaches, by using pluripotent cells and organoids to perform high-throughput screening of pharmacological compounds.
02

Conditions studied

  • Autism Disorder
  • ASD

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Keywords

  • autism
  • genes
  • phenotype
  • complex heritability
  • Induced pluripotent stem cells
03

In context

Autistic Disorder

1,030 studies on the registry are indexed under Autistic Disorder; 266 are open to participants now.

This study's planned enrollment of 450 is above the median of 49 across 811 interventional studies indexed under Autistic Disorder.

Browse Autistic Disorder studies →

Lead sponsor

Institut National de la Santé Et de la Recherche Médicale, France is the lead sponsor of 378 studies on the registry; 81 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
2 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

● 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 [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 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

Exclusion criteria

Exclusion Criteria:

  • 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 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
Terms in these criteria, in plain language(3)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

DSM diagnostic criteria

The American Psychiatric Association’s manual of mental health diagnoses. DSM-5 (2013, revised as DSM-5-TR in 2022) replaced DSM-IV, and some studies still name the older edition. “Meets DSM criteria for …” means diagnosed by that edition’s diagnostic criteria, usually by a clinician in an interview.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Immunosuppression

A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.

Read whether the line is about a condition or about medicines, and which medicines and doses it means.

05

Study design

Phase
Not applicable
Primary purpose
Diagnostic
Allocation
Non-randomized
Intervention model
Single group
Masking
None (open label)
Enrollment
450 participants (estimated)

Study arms

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

    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)

  • Other
    Controls without Autism Spectrum Disorder

    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)

  • Other
    Relatives of the probands with ASD

    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

  • OtherBlood Sample : isolation of peripheral blood mononuclear cells (PBMCs)

    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.

06

What researchers measure

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.

    Time frame: Inclusion visit

07

Study locations

1 site
08

References and documents

Related links

Individual participant data

Plan to share: No

09

Timeline

1 registry update since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedDate before it movedWhere the date was before it movedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Start is estimated for Dec 2026; primary completion for Feb 2041, 170 months later.

Of 354 non-industry interventional studies with no phase under Autistic Disorder, half reached primary completion within 26 months of starting (the median), counting those still running; a quarter within 14 and three quarters within 52. This study's planned 170 months is above that.

Counting every sponsor, half of 366 studies reached it within 26 months; a quarter within 13 and three quarters within 52.

Start moved once since we started tracking on Sep 25, 2026: Aug 2026 → Dec 2026, on Sep 25, 2026.

Earlier changes are on the record history on ClinicalTrials.gov ↗

How these figures are worked out, and which studies are left out of them.

Registered
Dec 16, 2025
First posted
Dec 30, 2025
StartEst.
Dec 1, 2026was Aug 2026
Primary completionEst.
Feb 1, 2041
CompletionEst.
Aug 1, 2041
Last update
Sep 25, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
Start date
Aug 1, 2026→Dec 1, 2026
Sep 25, 2026
Show all 1 update
  1. Sep 25, 2026
    Start date Aug 1, 2026→Dec 1, 2026
    + 1 other change: verification date

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

10

Registry details

Key details

Study ID
NCT07311213
Collaborators
APHP, Institut Pasteur
Responsible party
Sponsor
First posted
Dec 30, 2025
Start date
Dec 1, 2026 (estimated)
Primary completion
Feb 1, 2041 (estimated)
Completion
Aug 1, 2041 (estimated)
Last update
Sep 25, 2026

Study contacts

Richard Pr DELORME, Professor
Contact
richard.delorme@rdb.aphp.fr
0033140034130
Thomas Pr Bourgeron, Professor
study director · Institut Pasteur

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is not yet recruiting, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.

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