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
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.
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 →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.
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● For all participants :
2) Affiliated to the social insurance, Universal Health Coverage or any equivalent system.
→As a Reminder : C07-33 inclusion criteria
● Participants with ASD.
..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
3) Somatic state compatible with blood test
● Adult controls and adult relatives of controls
2) Somatic and intellectual state compatible with blood test
● Controls with mental retardation
2) Minimum age of 2 years
→As a Reminder : inclusion criteria C16-89
● Probands with ASD
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
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
Exclusion Criteria:
For all participants
4) Known serology : VIH+ or VBH+ or VCH+
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
3) Relatives of the TSA applicants or controls
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.
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.
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.
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.
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.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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)
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)
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)
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.
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
Plan to share: No
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.
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 ↗
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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