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Trial record 12 of 19 for:    stem cells and autism

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
Sponsor:
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

Tracking Information
First Submitted Date September 26, 2013
First Posted Date December 11, 2015
Last Update Posted Date December 11, 2015
Study Start Date August 2008
Estimated Primary Completion Date August 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: December 9, 2015)
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 ]
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures
 (submitted: December 9, 2015)
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
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Susceptibility Genes in Autism Spectrum Disorders
Official Title Search of Susceptibility Genes in Autism Spectrum Disorders
Brief Summary The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development. For this purpose the investigators will take advantage of large, well-characterized cohorts of patients with Autism Spectrum Disorder for genetic screenings. Targeted sequencing of selected synaptic genes, previously associated with Autism Spectrum Disorder, will be carried out in these cohorts with deep coverage of coding regions and a strong focus on previously untested regulatory regions. Genomic data from Copy Number Variant, whole genome sequencing and exome sequencing, available for some of these patients, will be integrated in the overall analysis. The investigators will strongly emphasize the establishment of comprehensive genotype/phenotype correlations and set up an induced Pluripotent Stem Cells collection from selected patients with synaptic mutations for functional and expression analysis.
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 Observational
Study Design Observational Model: Case Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
DNA from subjects will be stored in the biobank of our study. From some patients with deleterious mutations in synaptic genes, cells (PBMC, Keratinocytes ou Fibroblasts) will be sampled from derivation in Induced Pluripotent Stem Cells.
Sampling Method Non-Probability Sample
Study Population For all patients included in the study, .
Condition Autism Spectrum Disorders
Intervention Not Provided
Study Groups/Cohorts
  • 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).
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: December 9, 2015)
1000
Original Estimated Enrollment Same as current
Estimated Study Completion Date August 2018
Estimated Primary Completion Date August 2016   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Months to 70 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT02628808
Other Study ID Numbers C07-33
2008-A00019-46 ( Registry Identifier: IDRCB )
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Institut National de la Santé Et de la Recherche Médicale, France
Study Sponsor Institut National de la Santé Et de la Recherche Médicale, France
Collaborators Not Provided
Investigators
Principal Investigator: Marion Leboyer, M.D, Ph.D Institut National de la Santé Et de la Recherche Médicale, France
PRS Account Institut National de la Santé Et de la Recherche Médicale, France
Verification Date November 2015