Exploring genetic factors in autism and related disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to investigate the genetic variations in synaptic pathways associated with Autism Spectrum Disorder (ASD) using large cohorts of patients. Researchers will perform targeted sequencing of specific synaptic genes, focusing on both coding and regulatory regions that have not been previously tested. The study will also analyze genomic data from various sequencing methods to establish genotype/phenotype correlations and identify neuronal phenotypes linked to genetic mutations. This comprehensive approach seeks to enhance understanding of the genetic underpinnings of ASD for future therapeutic development.

Why it matters

Who can join: the full rules

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

Where it's running

• CIC, CHU Bordeaux
  Bordeaux, France Recruiting
• CRA, Hopital Charles Perrens, Bordeaux
  Bordeaux, France Recruiting
• Centre de rehabilitation psychosociale, Hopital Saint Egreve
  Grenoble, Grenoble, France Not yet recruiting
• CIC, H. Mondor, Creteil
  Créteil, France Not yet recruiting
• Albert Chenevier Hospital
  Créteil, Île-de-France Region, France Not yet recruiting
• Robert Debré Hospital
  Paris, Île-de-France Region, France Not yet recruiting

Study contacts

• Principal investigator: Richard Delorme, M.D, Ph.D — Institut National de la Santé Et de la Recherche Médicale, France
• Study coordinator: Richard Delorme, M.D, Ph.D
• Email: richard.delorme@aphp.fr
• Phone: +33662725334

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Sensory Integration and Deep Pressure Therapy for Motor Coordination in Children with ASD

  This study tests whether combining Sensory Integration Therapy with Deep Pressure Therapy can improve motor coordination and reduce repetitive behaviors in children aged 4–10 with autism.

  Recruiting Riphah International University · Rawalpindi, Punjab Province · NCT07911904

• Pupillometer screen to help identify autism in kids aged 2–4 during routine visits

  A handheld pupillometer test is being tried to see if it can help identify autism in young children during regular pediatric visits.

  Recruiting at 4 sites Schweitzer Engineering Laboratories · Lewiston, Idaho and 3 other locations · NCT07903675

• Leopard: using multi-omics to boost genetic diagnosis for neurodevelopmental disorders

  This study tests a multi-omics approach to find genetic explanations for neurodevelopmental disorders in people with moderate-to-severe intellectual disability.

  Recruiting Istituto Giannina Gaslini · Genova · NCT07884227

• Heart Rate Variability Biofeedback for Anxiety in Autistic Youth

  This study tests a wearable heart rate variability biofeedback tool to see if it helps reduce anxiety in autistic teens.

  Recruiting Phase 2 Massachusetts General Hospital · Lexington, Massachusetts · NCT07812233

• Structured Sensory-Based Occupational Therapy for Children with Autism

  This study tests a 12-week, 40-minute sensory-based occupational therapy program twice a week to see if it improves daily skills, sensory processing, movement, and eating in children aged 3-9 with autism.

  Recruiting Medipol University · Istanbul, Beykoz · NCT07789704

• Exergaming and Aerobic Exercise for Kids with Autism

  This study tests whether adding exergames or aerobic exercise to a standard program helps improve sleep, movement skills, thinking skills, and brain activity in children with autism.

  Recruiting National Taiwan University Hospital · Taipei · NCT07789457

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.