Status:

TERMINATED

Neuroimaging GABA Physiology in Fragile X Syndrome

Lead Sponsor:

Stanford University

Conditions:

Fragile X Syndrome (FXS)

Idiopathic Intellectual Developmental Disorder (IDD)

Eligibility:

MALE

18-30 years

Phase:

PHASE1

Brief Summary

The investigators wish to compare the brain distribution of GABA(A) receptors and GABA levels in young adult males with Fragile X Syndrome compared to idiopathic intellectual developmental disorder. T...

Detailed Description

Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder (ASD). Converging evidence suggests that GABAergic dysfunction occurs in FXS. The investigators wish to examine br...

Eligibility Criteria

Inclusion

  • Inclusion Criteria for participants with FXS:
  • Have an established diagnosis of FXS (full mutation with aberrant FMR1 methylation) by genetic testing
  • Diagnosis of intellectual disability
  • Males who are physically healthy
  • Age 18 to 30 years inclusive
  • IQ between 40 and 80 points
  • Ability to remain seated for more than 10 minutes
  • Ability to travel to Stanford
  • Exclusion criteria for participants with FXS:
  • Diagnosis of a known genetic disorder (other than FXS).
  • Active medical problems such as unstable seizures, congenital heart disease, endocrine disorders.
  • Significant sensory impairments such as blindness or deafness.
  • DSM-5 diagnosis of other severe psychiatric disorder such as bipolar disorder or schizophrenia.
  • Pre-term birth (\<34 weeks' gestation) or low birth weight (\<2000g).
  • Current use of benzodiazepines.
  • Contraindication for PET or MRI.
  • Inclusion criteria for participants with IDD:
  • Age 18 to 30 years inclusive
  • Adults who are physically healthy
  • No significant recent changes in psychosocial stressors per history
  • Diagnosis of intellectual disability
  • IQ between 40 and 80 points
  • Ability to remain seated for more than 10 minutes
  • Ability to travel to Stanford
  • Exclusion Criteria for participants with IDD:
  • Genetic diagnosis of FXS.
  • Active medical problems such as unstable seizures, congenital heart disease, endocrine disorders.
  • Significant sensory impairments such as blindness or deafness.
  • DSM-5 diagnosis of other severe psychiatric disorder such as bipolar disorder or schizophrenia.
  • Pre-term birth (\<34 weeks' gestation) or low birth weight (\<2000g).
  • Current use of benzodiazepines.
  • Contraindication for PET or MRI.

Exclusion

    Key Trial Info

    Start Date :

    November 1 2016

    Trial Type :

    INTERVENTIONAL

    Allocation :

    ACTUAL

    End Date :

    December 6 2018

    Estimated Enrollment :

    17 Patients enrolled

    Trial Details

    Trial ID

    NCT04308954

    Start Date

    November 1 2016

    End Date

    December 6 2018

    Last Update

    January 28 2021

    Active Locations (1)

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    Page 1 of 1 (1 locations)

    1

    Stanford University

    Stanford, California, United States, 94305