- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02628808
Susceptibility Genes in Autism Spectrum Disorders
Search of Susceptibility Genes in Autism Spectrum Disorders
Study Overview
Status
Conditions
Detailed Description
Specific aims are:
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 generate a repository of induced Pluripotent Stem Cells from Autism Spectrum Disorder subjects with synaptic mutations for translational studies, including expression and functional assays.
Aim 4: To identify the neuronal phenotypes caused by deleterious synaptic mutations for further translational studies
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Marion Leboyer, M.D, Ph.D
- Phone Number: +0033149813131
- Email: marion.leboyer@inserm.fr
Study Contact Backup
- Name: Richard Delorme, M.D, Ph.D
- Phone Number: +0033662725334
- Email: richard.delorme@aphp.fr
Study Locations
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Ile de France
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Creteil, Ile de France, France, 94000
- Recruiting
- Albert Chenevier hospital
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Contact:
- Marion Leboyer, MD, PhD
- Phone Number: +33149813290
- Email: marion.leboyer@inserm.fr
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Paris, Ile de France, France, 75019
- Recruiting
- Robert Debré Hospital
-
Contact:
- Richard Delorme, MD, PhD
- Phone Number: +33662725334
- Email: richard.delorme@aphp.fr
-
Principal Investigator:
- Richard Delorme, MD, PhD
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Diagnosis for Autism Spectrum Disorders or Autism using the Autism Diagnostic Interview-Revised (ADI-R) criteria for autism and Autism Diagnostic Observation Schedule (ADOS-G) criteria
Exclusion Criteria:
- 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
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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Autism Spectrum Disorder
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.
|
controls
Age 6 to 40 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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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
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
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up to 12 months after completion of the inclusion and molecular explorations
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Identification of biological pathways in Autism Spectrum Disorders
Time Frame: up to 12 months after completion of the inclusion and molecular explorations)
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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
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up to 12 months after completion of the inclusion and molecular explorations)
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Collaborators and Investigators
Investigators
- Principal Investigator: Marion Leboyer, M.D, Ph.D, Institut National de la Santé Et de la Recherche Médicale, France
Publications and helpful links
General 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.
- Amestoy A, Guillaud E, Bucchioni G, Zalla T, Umbricht D, Chatham C, Murtagh L, Houenou J, Delorme R, Moal ML, Leboyer M, Bouvard M, Cazalets JR. Visual attention and inhibitory control in children, teenagers and adults with autism without intellectual disability: results of oculomotor tasks from a 2-year longitudinal follow-up study (InFoR). Mol Autism. 2021 Nov 13;12(1):71. doi: 10.1186/s13229-021-00474-2. Erratum in: Mol Autism. 2022 Jan 5;13(1):4.
- Latimier A, Kovarski K, Peyre H, Fernandez LG, Gras D, Leboyer M, Zalla T. Trustworthiness and Dominance Personality Traits' Judgments in Adults with Autism Spectrum Disorder. J Autism Dev Disord. 2019 Nov;49(11):4535-4546. doi: 10.1007/s10803-019-04163-1.
- Grea H, Scheid I, Gaman A, Rogemond V, Gillet S, Honnorat J, Bolognani F, Czech C, Bouquet C, Toledano E, Bouvard M, Delorme R, Groc L, Leboyer M. Clinical and autoimmune features of a patient with autism spectrum disorder seropositive for anti-NMDA-receptor autoantibody. Dialogues Clin Neurosci. 2017 Mar;19(1):65-70. doi: 10.31887/DCNS.2017.19.1/mleboyer.
Helpful Links
Study record dates
Study Major Dates
Study Start
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- C07-33
- 2008-A00019-46 (Registry Identifier: IDRCB)
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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