Susceptibility Genes in Autism Spectrum Disorders
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|ClinicalTrials.gov Identifier: NCT02628808|
Recruitment Status : Unknown
Verified November 2015 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was: Recruiting
First Posted : December 11, 2015
Last Update Posted : December 11, 2015
|Condition or disease|
|Autism Spectrum Disorders|
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 :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Search of Susceptibility Genes in Autism Spectrum Disorders|
|Study Start Date :||August 2008|
|Estimated Primary Completion Date :||August 2016|
|Estimated Study Completion Date :||August 2018|
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.
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).
- 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 ]
- Identification of biological pathways in Autism Spectrum Disorders [ 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
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): NCT02628808
|Contact: Marion Leboyer, M.D, Ph.Demail@example.com|
|Contact: Richard Delorme, M.D, Ph.Dfirstname.lastname@example.org|
|Albert Chenevier Hospital||Recruiting|
|Creteil, Ile de France, France, 94000|
|Contact: Marion Leboyer, MD, PhD +33149813290 email@example.com|
|Robert Debré Hospital||Recruiting|
|Paris, Ile de France, France, 75019|
|Contact: Richard Delorme, MD, PhD +33662725334 firstname.lastname@example.org|
|Principal Investigator: Richard Delorme, MD, PhD|
|Principal Investigator:||Marion Leboyer, M.D, Ph.D||Institut National de la Santé Et de la Recherche Médicale, France|