Clinical Trial: Physiological Abnormalities Associated With Down Syndrome

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Observational

Official Title: Physiologic Biomarkers Within the Functional Spectrum of Down Syndrome

Brief Summary: The overall goal of this study is to evaluate biomarkers of oxidative stress, mitochondrial function, and DNA methylation (epigenetics) in order to determine the extent to which these biomarkers are related to cognitive, behavioral and adaptive function in Down Syndrome. The inter-relationship between measurable biomarkers and functional/cognitive abilities will move beyond genetics to provide unprecedented new knowledge and a broader understanding of the underlying pathophysiology and abnormal gene expression induced by trisomy 21.

Detailed Summary: The Investigators preliminary evidence indicates that people with DS have metabolic biomarkers associated with oxidative stress (GSH/GSSG) and reduced methylation capacity (SAM/SAH) as well as abnormal DNA methylation (epigenetics). The investigative team hypothesize that these abnormal metabolic processes contribute to abnormalities in behavior and development associated with trisomy 21; this connection has never been investigated. Confirming and expanding on the preliminary data would provide new understanding of the biological and functional etiology of the behavioral and developmental delays associated with Trisomy 21. Further, establishing the underlying relationship between metabolic abnormalities and behavioral/cognitive function over the age spectrum can provide strong support for the design of future treatments of individuals with DS aimed at improving their behavior and development. In addition, these biomarkers may also prove to be predictive biomarkers for the risk of developing ASD like behaviors or Alzheimer's disease in this population. Finally, examining the modulating role of diet in the severity of biological abnormalities will provide new information for lifestyle guidance to improve biomarkers and potentially minimize the medical co-morbidities associated with trisomy 21.
Sponsor: University of Arkansas

Current Primary Outcome:

  • Microbiome Analysis [ Time Frame: 2 years ]
    Stool will be collected for Microbiome Analysis on cases and controls
  • Mitochondrial Function Analysis [ Time Frame: 2 years ]
    The Seahorse XR extracellular flux analyzer will be used to measure mitochondrial function in cases and controls
  • Oxidative Stress Analysis [ Time Frame: 2 years ]
    Thiol measurements will be collected and analyzed between cases and controls
  • Immune Function [ Time Frame: 2 years ]
    Salivary measurements of cytokines will be collected on cases and controls
  • Metabolomics [ Time Frame: 2 years ]
    Urine will be collected for metabolomics analysis on cases and controls
  • Epigenetics [ Time Frame: 2 years ]
    Epigenetics will be evaluated on cases and controls
  • Folate Receptor Alpha Autoantibody (FRAA) [ Time Frame: 2 years ]
    Serum will be collected for FRAA analysis on cases and controls
  • Thyroid Function [ Time Frame: 2 years ]
    Thyroid measures of Thyroid Stimulating Hormone (TSH), T3, Reverse T3 and free and total T4 will be evaluated on cases and controls
  • Diet [ Time Frame: 2 years ]

    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    Original Secondary Outcome:

    Information By: University of Arkansas

    Dates:
    Date Received: March 9, 2017
    Date Started: June 2017
    Date Completion: December 2019
    Last Updated: March 16, 2017
    Last Verified: March 2017