Study of the Genetic Factors Involved in Autism and Related Disorders (Gene&autism)
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ClinicalTrials.gov Identifier: NCT04727489 |
Recruitment Status :
Recruiting
First Posted : January 27, 2021
Last Update Posted : May 5, 2021
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Condition or disease | Intervention/treatment |
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Autism Spectrum Disorder | Genetic: DNA from subjects will be stored in the biobank of our study. |
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
Study Type : | Observational |
Estimated Enrollment : | 3800 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
Official Title: | Study of the Genetic Factors Involved in Autism and Related Disorders |
Actual Study Start Date : | March 30, 2021 |
Estimated Primary Completion Date : | December 21, 2022 |
Estimated Study Completion Date : | December 31, 2037 |
Group/Cohort | Intervention/treatment |
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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.
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Genetic: DNA from subjects will be stored in the biobank of our study.
Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.
Other Name: diagnostic test |
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).
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Genetic: DNA from subjects will be stored in the biobank of our study.
Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.
Other Name: diagnostic test |
Relatives of probands with Autism Spectrum Disorder
Relatives of probands with Autism Spectrum Disorder (N=1200 parents, N=600 siblings, N=300 other relatives)
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Genetic: DNA from subjects will be stored in the biobank of our study.
Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.
Other Name: diagnostic test |
Relatives of controls
Relatives of controls without Autism Spectrum Disorder, N=400 first degree relatives
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Genetic: DNA from subjects will be stored in the biobank of our study.
Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria for autism or Autism Spectrum Disorders.
Other Name: diagnostic test |
- Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder [ Time Frame: up to 12 months after completion of the inclusion and molecular explorations ]Prevalence of synaptic gene deleterious mutations in patients with Autism Spectrum Disorder
- Prevalence of the deleterious mutations in the major biological pathways in Autism Spectrum Disorder [ Time Frame: up to 12 months after completion of the inclusion and molecular explorations ]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
Biospecimen Retention: Samples With DNA
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Ages Eligible for Study: | 24 Months to 70 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
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
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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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04727489
Contact: Richard Delorme, M.D, Ph.D | +0033662725334 | richard.delorme@aphp.fr |
France | |
Albert Chenevier Hospital | Not yet recruiting |
Creteil, Ile De France, France, 94000 | |
Contact: Marion Leboyer, MD., PhD. +33 (0)1 49 81 32 90 marion.leboyer@inserm.fr | |
Robert Debré Hospital | Not yet recruiting |
Paris, Ile De France, France, 75019 | |
Contact: richard delorme, MD., PhD. +33 (0)6 62 72 53 34 richard.delorme@aphp.fr | |
Principal Investigator: richard Delorme, M.D,Ph.D | |
CIC, CHU Bordeaux | Recruiting |
Bordeaux, France | |
Contact: Michael Fayon, MD., PhD. +33 (0)5 57 82 01 08 michael.fayon@chu-bordeaux.fr | |
CRA, Hopital Charles Perrens, Bordeaux | Recruiting |
Bordeaux, France | |
Contact: Mauel Bouvard, MD., PhD. +33 (0)5 56 56 17 19 bouvard.manuel@wanadoo.fr | |
CIC, H. Mondor, Creteil | Not yet recruiting |
Créteil, France | |
Contact: Philippe Le Corvoisier, MD., PhD. +33 (0)1 49 81 37 96 philippe.lecorvoisier@inserm.fr | |
Centre de rehabilitation psychosociale, Hopital Saint Egreve | Not yet recruiting |
Grenoble, France | |
Contact: Julien Dubreucq, MD. +33 (0)4 76 56 44 40 jdubreucq@ch-alpes-isere.fr |
Study Data/Documents: Study Protocol
Publications of Results:
Responsible Party: | Institut National de la Santé Et de la Recherche Médicale, France |
ClinicalTrials.gov Identifier: | NCT04727489 |
Other Study ID Numbers: |
C16-89 |
First Posted: | January 27, 2021 Key Record Dates |
Last Update Posted: | May 5, 2021 |
Last Verified: | April 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
autism developmental Disorder gene polymorphism mutation |
Autistic Disorder Autism Spectrum Disorder Child Development Disorders, Pervasive Neurodevelopmental Disorders Mental Disorders |