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Trial record 2 of 44 for:    Recruiting, Not yet recruiting, Available Studies | "Down Syndrome"

Physiological Abnormalities Associated With Down Syndrome

This study is not yet open for participant recruitment.
See Contacts and Locations
Verified March 2017 by University of Arkansas
Sponsor:
Collaborators:
Down Syndrome Research Foundation
Arkansas Children Research Institute
Information provided by (Responsible Party):
University of Arkansas
ClinicalTrials.gov Identifier:
NCT03087500
First received: March 9, 2017
Last updated: March 16, 2017
Last verified: March 2017
  Purpose
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.

Condition
Down Syndrome

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Physiologic Biomarkers Within the Functional Spectrum of Down Syndrome

Resource links provided by NLM:


Further study details as provided by University of Arkansas:

Primary Outcome Measures:
  • 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 ]
    Dietary contributions will be evaluated on cases and controls


Biospecimen Retention:   Samples Without DNA
  • Biomarkers of oxidative stress (GSH/GSSG)
  • Biomarkers of reduced methylation capacity (SAM/SAH)
  • Biomarkers of mitochondrial energetics
  • Metabolomics (Urine, Blood)
  • Salivary inflammatory cytokines (IL-1, IL2, IL-6, TNFα)
  • DNA methylation array (epigenetic profile); total DNA methylation
  • Folate Receptor Autoantibody (Blocking and Binding)
  • Thyroid Function (Thyroid Stimulating Hormone, T3, Reverse T3 and free and total T4)
  • Microbiome Analysis (Stool)

Estimated Enrollment: 180
Anticipated Study Start Date: June 2017
Estimated Study Completion Date: December 2019
Estimated Primary Completion Date: June 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
Down Syndrome (DS)
120 clinically confirmed full trisomy 21, age 3-50 years of both sexes will be recruited as the target study population. Half of the individuals (n=60) will be children (3-17 years of age) while half (n=60) will be adults (18-50 years of age)
Typically Developing Controls
60 typically developing individuals age 3-50, age and gender matched to at least one participant with DS. Half of the controls (n=30) will be age and gender match to children with DS and half (n=30) will be age and gender matched to adults with DS.

Detailed Description:
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.
  Eligibility

Ages Eligible for Study:   3 Years to 50 Years   (Child, Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Downs Syndrome: 120 clinically confirmed full trisomy 21, age 3-50 years of both sexes will be recruited as the target study population. Half of the individuals (n=60) will be children (3-17 years of age) while half (n=60) will be adults (18-50 years of age) Control Subjects: 60 typically developing individuals age 3-50, age and gender matched to at least one participant with DS. Half of the controls (n=30) will be age and gender match to children with DS and half (n=30) will be age and gender matched to adults with DS.
Criteria

Inclusion Criteria:

1. Participant or guardian ability to consent/assent and willing to comply with protocol requirements

Exclusion Criteria:

  1. Trisomy translocation or mosaics.
  2. Untreated hypothyroidism
  3. Known history of liver disease, renal disease, Hepatitis B or C or HIV
  4. Recent infection with fever or requiring hospitalization within past 30 days.
  5. Any medical condition, use of medications, nutrient or herbal supplements that would interfere with the study results as determined by the PI
  6. Chemotherapy
  7. Recent surgery (within 2 months)
  8. Untreated Epilepsy
  9. Any chronic medical/behavioral condition and/or treatments that may interfere with study related outcomes, as determined by PI
  10. Dementia
  11. History of a significant adverse reaction to a prior blood draw
  12. Any other historical event/information that may, in the opinion of the PI, be a reason to exclude the child from participation.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT03087500

Contacts
Contact: Michelle E Haygood 501-526-4020 HaygoodMichelle@uams.edu

Sponsors and Collaborators
University of Arkansas
Down Syndrome Research Foundation
Arkansas Children Research Institute
Investigators
Principal Investigator: Richard Frye Arkansas Childrens Research Institute
  More Information

Responsible Party: University of Arkansas
ClinicalTrials.gov Identifier: NCT03087500     History of Changes
Other Study ID Numbers: IRB: #206522
Study First Received: March 9, 2017
Last Updated: March 16, 2017
Individual Participant Data  
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University of Arkansas:
Down Syndrome
Typically Developing Participants
Children
Adolescents
Adults

Additional relevant MeSH terms:
Down Syndrome
Syndrome
Disease
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on June 23, 2017