Autism Spectrum DisorderGene&autismNCT04727489
Study of the Genetic Factors Involved in Autism and Related Disorders
An observational study of Autism Spectrum Disorder, run by Institut National de la Santé Et de la Recherche Médicale, France at 6 sites in France.
Trial summary
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development. Read more about this study
- Who is it for?
- Ages 24 months to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Autism Spectrum Disorder
- What is being tested?
- DNA from subjects will be stored in the biobank of our study.
- How many people
- 3,800 participants
- Where
- 6 sitesFrance
- Study dates
- 30 Mar 2021to Mar 2036
- Phase
- Observational
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 24 months to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: For all patients included in the study
Inclusion Criteria---------------------------------------------------------------------------------------------------
Probands with Autism Spectrum Disorder
- Meet the diagnostic criteria for ASD of the DSM-5 [American Psychiatric Association, 2013] based on a consensus between the clinical expertise of expert clinicians, the scores of the Autism Diagnostic Interview-Revised (ADI-R) (Rutter et al, 2003) and those of the Autism Diagnosis Observation Schedule (ADOS-2) (Lord et al, 2012)
- Be at least 24 months (no upper age limit)
- Somatic and Intellectual state compatible with a blood test
- Affiliation to the social insurance
- Signature of informed consent by the applicant or by holders of parental authority if the subject is a minor or by the guardian if the subject is under guardianship
Controls without ASD
- At least 24 months old
- Somatic and Intellectual state compatible with a blood test
- Affiliation to the social insurance
- 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
- At least 24 months old
- Somatic and Intellectual state compatible with a blood test
- Affiliation to the social insurance
- 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
Exclusion Criteria --------------------------------------------------------------------------------------------------
Probands with Autism Spectrum Disorder
- Severe Intelectual Deficiency (IQ,35 or developmental age <18 months) ●. Personal psychiatric history (schizophrenia, bipolar disorder, substance use disorder (except tobacco), recurrent depression disorder, severe instable anxiety disorder)
- Personal neurologic history (epilepsy, or severe neurological disease)
Relatives of the probands with ASD, of the controls or the controls:
● Medical condition (psychiatric or somatic) not compatible with the inclusion
Trial locations and contacts
6 sites in 1 country. Contact the study team or a site near you to ask about taking part.
6 sites in 1 country
France6 sites, 6 recruiting
- Recruiting
CIC, CHU Bordeaux
Bordeaux
Michael Fayon, MD., PhD., +33 (0)5 57 82 01 08, michael.fayon@chu-bordeaux.fr
- Recruiting
CRA, Hopital Charles Perrens, Bordeaux
Bordeaux
Mauel Bouvard, MD., PhD., +33 (0)5 56 56 17 19, bouvard.manuel@wanadoo.fr
- Not yet recruiting
CIC, H. Mondor, Creteil
Créteil
Philippe Le Corvoisier, MD., PhD., +33 (0)1 49 81 37 96, philippe.lecorvoisier@inserm.fr
- Not yet recruiting
Albert Chenevier Hospital
Créteil, Île-de-France Region, 94000
Marion Leboyer, MD., PhD., +33 (0)1 49 81 32 90, marion.leboyer@inserm.fr
- Not yet recruiting
Centre de rehabilitation psychosociale, Hopital Saint Egreve
Grenoble, Grenoble
Julien Dubreucq, MD., +33 (0)4 76 56 44 40, jdubreucq@ch-alpes-isere.fr
- Not yet recruiting
Robert Debré Hospital
Paris, Île-de-France Region, 75019
richard delorme, MD., PhD., +33 (0)6 62 72 53 34, richard.delorme@aphp.fr
richard Delorme, M.D,Ph.D
About this study
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development. For this purpose the investigators will take advantage of large, well-characterized cohorts of patients with Autism Spectrum Disorder for genetic screenings. Targeted sequencing of selected synaptic genes, previously associated with Autism Spectrum Disorder, will be carried out in these cohorts with deep coverage of coding regions and a strong focus on previously untested regulatory regions. Genomic data from Copy Number Variant, whole genome sequencing and exome sequencing, available for some of these patients, will be integrated in the overall analysis. The investigators will strongly emphasize the establishment of comprehensive genotype/phenotype correlations.
Read the detailed description
Aim 1: To identify genetic variants in selected synaptic genes, by targeted sequencing with deep coverage of coding regions and a strong focus on previously untested regulatory regions in Autism Spectrum Disorder
Aim 2: To define the range of clinical phenotypes caused by mutations in synaptic genes by establishing detailed genotype/phenotype correlations and analyzing segregation in families with multiple individuals affected by Autism Spectrum Disorder, Autism Spectrum Disorder traits or other neuropsychiatric disorders
Aim 3: To identify the neuronal phenotypes caused by deleterious synaptic mutations for further translational studies
- Conditions
- Autism Spectrum Disorder
- Being tested
- DNA from subjects will be stored in the biobank of our study.
- Keywords
- autism, developmental Disorder, gene, polymorphism, mutation
- Medical subject headings
- Autism Spectrum Disorder, Autistic Disorder, Developmental Disabilities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DNA from subjects will be stored in the biobank of our study.Genetic
Also called diagnostic test
Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.
| Study group | Role | What they receive |
|---|---|---|
| Autism Spectrum Disorder | Probands with Autism Spectrum Disorder, (N=700), Diagnosis of ASD according to DSM-V criteria For all patients included in the study, core assessment carried out by either collaborating partners consists of diagnosis using the Autism Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders. Patients with profound intellectual disability or with a known medical cause of autism, such as neurocutaneous syndromes, Fragile X, metabolic disorders, extreme prematurity, congenital rubella and other prenatal or postnatal neurological infections or gross dysmorphology, will be excluded. Receives: Genetic: DNA from subjects will be stored in the biobank of our study. | |
| Control without Autism Spectrum Disorder | Controls without Austim Spectrum Disorder, aged 6 to 40, N=2100 (300 adultes, 300 children) Healthy individuals with or without idiopathic surgical or urological conditions (e.g. orthopaedic conditions, hernia repairs, renal malformations, pre- or post-circumcision, phimosis, balanitis, scoliosis, congenital hip dislocation, adenoid or tonsil removal, dental procedures such as wisdom tooth extraction, cosmetic procedures such as removal of skin tags or cleft lip repairs, non-head injuries such as fractures, drainage of subungual or perichondrial haematomata). Receives: Genetic: DNA from subjects will be stored in the biobank of our study. | |
| Relatives of probands with Autism Spectrum Disorder | Relatives of probands with Autism Spectrum Disorder (N=1200 parents, N=600 siblings, N=300 other relatives)
* Without Autism Spectrum Disorder diagnosis according to DSM-V,
* With Autism Spectrum Disorder diagnosis according to DSM-V, and using the Autism Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders Receives: Genetic: DNA from subjects will be stored in the biobank of our study. | |
| Relatives of controls | Relatives of controls without Autism Spectrum Disorder, N=400 first degree relatives Receives: Genetic: DNA from subjects will be stored in the biobank of our study. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder
Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder
Measured: up to 12 months after completion of the inclusion and molecular explorations
Secondary outcomes (1)
Prevalence of the deleterious mutations in the major biological pathways in Autism Spectrum Disorder
The deleterious mutations that the investigators will identify in genes related to Autism Spectrum Disorders will help to have a comprehensive framework of biological pathways involved in Autism Spectrum Disorder
Measured: up to 12 months after completion of the inclusion and molecular explorations
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2021
- Study start30 Mar 2021
- Primary completionMar 2036 (estimated)
- Study completionMar 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Autism Spectrum 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
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 3,800 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Richard Delorme, M.D, Ph.D, Principal investigator, Institut National de la Santé Et de la Recherche Médicale, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04727489
- Sponsor's protocol ID
- C16-89
- Acronym
- Gene&autism
- Status last verified
- Dec 2025
- First submitted
- 20 Jan 2021
- Last updated
- 23 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Delorme R, Ey E, Toro R, Leboyer M, Gillberg C, Bourgeron T. Progress toward treatments for synaptic defects in autism. Nat Med. 2013 Jun;19(6):685-94. doi: 10.1038/nm.3193. Epub 2013 Jun 6.
PubMed 23744158