Exploring genetic factors in autism and related disorders
Study of the Genetic Factors Involved in Autism and Related Disorders
This study is trying to find out how certain genes might be linked to autism and related disorders by looking closely at genetic variations in large groups of people.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 3800 (estimated) |
| Ages | 24 Months to 70 Years |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 6 sites (Grenoble, Grenoble and 5 other locations) |
| Trial ID | NCT04727489 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Autism Spectrum Disorder aged 24 months or older, as well as control participants without ASD.
Not a fit: Patients who do not meet the diagnostic criteria for Autism Spectrum Disorder or are unable to provide informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to targeted therapies for Autism Spectrum Disorder based on genetic insights.
How similar studies have performed: Previous studies have shown promise in identifying genetic factors related to Autism Spectrum Disorder, making this approach both relevant and potentially impactful.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Grenoble, Grenoble and 5 other locations
- 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, 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.