Autism DisorderIPSCNCT07311213
GENES AND AUTISM - Induced Pluripotent Stem Cells
A study testing Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs) in people with Autism Disorder and ASD, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 years and olderHealthy volunteers can take part
- Conditions the study is for
- Autism Disorder, ASD
- What is being tested?
- Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 450 participants
- Where
- 1 siteFrance
- Study dates
- 1 Dec 2026to 1 Aug 2041
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- ● 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.
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- ..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
Who cannot join
- 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
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- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Hôpital Robert Debré
Paris, 75019
Delorme Richard Pr Study Coordinator, Professor, 0033 1 40 03 41 30, richard.delorme@rdb.aphp.fr
About this study
Official title: EXPLORATIONS CELLULAIRES - CELLULES PLURIPOTENTES INDUITES DES SUJETS PRESENTANT UN TSA, DE LEURS APPARENTES, ET DE TEMOINS
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.
Read more
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.
- Conditions
- Autism Disorder, ASD
- Being tested
- Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs)
- Keywords
- autism, genes, phenotype, complex heritability, Induced pluripotent stem cells
- Medical subject headings
- Autistic Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: 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). Receives: 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). Receives: Other: Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Dec 2025
- Study start1 Dec 2026 (estimated)
- Primary completion1 Feb 2041 (estimated)
- Study completion1 Aug 2041 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autism DisorderStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 450 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Collaborators
- APHP, Institut Pasteur
- Responsible party
- Sponsor
- Investigators
- Thomas Pr Bourgeron, Professor, Study director, Institut Pasteur
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07311213
- Sponsor's protocol ID
- C22-14
- Acronym
- IPSC
- Status last verified
- Sep 2026
- First submitted
- 16 Dec 2025
- Last updated
- 25 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- EXPLORATIONS CELLULAIRES - CELLULES PLURIPOTENTES INDUITES DES SUJETS PRESENTANT UN TSA, DE LEURS APPARENTES, ET DE TEMOINS
- ClinicalTrials.gov ID
- NCT07311213
- Acronym / sponsor ID
- IPSC / C22-14
- Conditions
- Autism Disorder, ASD
- Keywords
- autism, genes, phenotype, complex heritability, Induced pluripotent stem cells
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 450 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Collaborators
- APHP, Institut Pasteur
- Study start
- 1 Dec 2026 (estimated)
- Primary completion
- 1 Feb 2041 (estimated)
- Study completion
- 1 Aug 2041 (estimated)
- First posted
- 30 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Probands with Autism Spectrum Disorder, (N=200). | Other | Other: Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs)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). |
| Controls without Autism Spectrum Disorder | Other | Other: Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs)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). |
| Relatives of the probands with ASD | Other | Other: Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs)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). |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (33 listed)
- 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.
Key exclusion criteria (20 listed)
- For all participants
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood 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. | Other | Controls without Autism Spectrum Disorder, Probands with Autism Spectrum Disorder, (N=200)., Relatives of the probands with ASD |
Primary outcome
Isolation of peripheral blood mononuclear cells (PBMCs)
Time frame: Inclusion visit
Blood sample to be taken from individuals with ASD, a population of relatives, and a population of controls.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Sep 2026.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Thomas Pr Bourgeron, Professor study director
Institut Pasteur
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood Sample : isolation of peripheral blood mononuclear cells (PBMCs) in people with Autism Disorder and ASD, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 33 inclusion and 20 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 25 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Richard Pr DELORME, Professor (0033140034130, richard.delorme@rdb.aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Isolation of peripheral blood mononuclear cells (PBMCs) (time frame: Inclusion visit). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Sep 2026.