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Trial record 18 of 22 for:    fragile x | Recruiting, Not yet recruiting, Available Studies

Susceptibility Genes in Autism Spectrum Disorders

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ClinicalTrials.gov Identifier: NCT02628808
Recruitment Status : Recruiting
First Posted : December 11, 2015
Last Update Posted : December 11, 2015
Sponsor:
Information provided by (Responsible Party):

Study Description
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.

Condition or disease
Autism Spectrum Disorders

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 Design

Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Case Control
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

Group/Cohort
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).


Outcome Measures

Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. 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
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.

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Months to 70 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
For all patients included in the study, .
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
Contacts and Locations

Information from the National Library of Medicine

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


Contacts
Contact: Marion Leboyer, M.D, Ph.D +0033149813131 marion.leboyer@inserm.fr
Contact: Richard Delorme, M.D, Ph.D +0033662725334 richard.delorme@aphp.fr

Locations
France
Albert Chenevier Hospital Recruiting
Creteil, Ile de France, France, 94000
Contact: Marion Leboyer, MD, PhD    +33149813290    marion.leboyer@inserm.fr   
Robert Debré Hospital Recruiting
Paris, Ile de France, France, 75019
Contact: Richard Delorme, MD, PhD    +33662725334    richard.delorme@aphp.fr   
Principal Investigator: Richard Delorme, MD, PhD         
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
Principal Investigator: Marion Leboyer, M.D, Ph.D Institut National de la Santé Et de la Recherche Médicale, France
More Information

Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier: NCT02628808     History of Changes
Other Study ID Numbers: C07-33
2008-A00019-46 ( Registry Identifier: IDRCB )
First Posted: December 11, 2015    Key Record Dates
Last Update Posted: December 11, 2015
Last Verified: November 2015

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
autism
asperger
Pervasive Developmental Disorder No Otherwise Specify
gene
polymorphism
mutation

Additional relevant MeSH terms:
Disease
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Disease Susceptibility
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders
Disease Attributes