Study of the Genetic Factors Involved in Autism and Related Disorders

NCT04727489 | Recruiting DMC

• 1 other identifier: C16-89
• Study Type: observational
• Target: 3,800
• Locations: 1 country
• Sites: 6

Brief 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. 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.

Conditions

Autism Spectrum Disorder

Keywords

autism; developmental Disorder; gene; polymorphism; mutation

Outcome Measures

Primary Outcomes (1)

• Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder

  Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder

  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

  up to 12 months after completion of the inclusion and molecular explorations

Study Arms (4)

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.

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).

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

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

Genetic: DNA from subjects will be stored in the biobank of our study.

Interventions

DNA from subjects will be stored in the biobank of our study. GENETIC

Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.

Also known as: diagnostic test

Autism Spectrum Disorder; Control without Autism Spectrum Disorder; Relatives of controls; Relatives of probands with Autism Spectrum Disorder

Eligibility Criteria

• Age: 24 Months - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

For all patients included in the study

You may qualify if:

• 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

You may not qualify if:

• 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:

Sponsors & Collaborators

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

Study Sites (6)

Centre de rehabilitation psychosociale, Hopital Saint Egreve

Grenoble, Grenoble, France

NOT YET RECRUITING

CIC, CHU Bordeaux

Bordeaux, France

RECRUITING

CRA, Hopital Charles Perrens, Bordeaux

Bordeaux, France

RECRUITING

CIC, H. Mondor, Creteil

Créteil, France

NOT YET RECRUITING

Albert Chenevier Hospital

Créteil, Île-de-France Region, 94000, France

NOT YET RECRUITING

Robert Debré Hospital

Paris, Île-de-France Region, 75019, France

NOT YET RECRUITING

Related Publications (1)

• 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.

  PMID: 23744158 RESULT

Related Links

• Description website of the sponsor

Biospecimen

Retention: SAMPLES WITH DNA

DNA from subjects will be stored in the biobank of our study. From some patients with deleterious mutations in synaptic genes,

MeSH Terms

Conditions

Autism Spectrum Disorder; Autistic Disorder; Developmental Disabilities

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Richard Delorme, M.D, Ph.D

  Institut National de la Santé Et de la Recherche Médicale, France

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Richard Delorme, M.D, Ph.D

CONTACT

+33662725334; richard.delorme@aphp.fr

Marion Leboyer, M.D, Ph.D

CONTACT

+33149813131; marion.leboyer@inserm.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 20, 2021
• First Posted: January 27, 2021
• Study Start: March 30, 2021
• Primary Completion (Estimated): March 1, 2036
• Study Completion (Estimated): March 1, 2036
• Last Updated: December 23, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (6)