Neurophysiological Molecular and Developmental Analysis of the Glutamate Synapse in Autism

Overview

Neurophysiological, Molecular and Developmental Analysis of the glutamate synapse in Autism

Full Title of Study: “Autism and Glutamatergic Synapse : Research of Genetic Mutations and Identification of Clinical and Neurophysiological Markers.”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: Non-Randomized
    • Intervention Model: Parallel Assignment
    • Masking: None (Open Label)
  • Study Primary Completion Date: January 2011

Detailed Description

Analysis about 50 genes in glutamate synapse

Interventions

  • Genetic: analysis of the glutamate synapse in autism
    • Neurophysiological, molecular and developmental analysis of the glutamate synapse in autism
  • Genetic: DNA collection
    • DNA collection
  • Other: Auditory evoked potentials
    • auditory evoked potentials

Arms, Groups and Cohorts

  • Experimental: Autism
    • Analysis of the glutamate synapse in autism
  • Other: Relative
    • Analysis of the glutamate synapse in autism
  • Other: Major control
    • DNA collection
  • Other: Minor control
    • auditory evoked potentials

Clinical Trial Outcome Measures

Primary Measures

  • screening of about 50 genes encoding proteins of the NMDA receptor complex, chosen according to their chromosomal localisation located in hotspots depicted by genome-wide screens in large population of autistic patients
    • Time Frame: two years

Participating in This Clinical Trial

Inclusion Criteria

  • have a Pervasive Developmental Disorder Exclusion Criteria:

  • N/A

Gender Eligibility: All

Minimum Age: 2 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • University Hospital, Tours
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Frédérique BONNET-BRILHAULT, MD PHD, Study Director, University François Rabelais of TOURS

Citations Reporting on Results

Bonnet-Brilhault F, Alirol S, Blanc R, Bazaud S, Marouillat S, Thepault RA, Andres CR, Lemonnier E, Barthelemy C, Raynaud M, Toutain A, Gomot M, Laumonnier F. GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability. Mol Psychiatry. 2016 Mar;21(3):411-8. doi: 10.1038/mp.2015.75. Epub 2015 Jun 9.

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