Physiologic Biomarkers Within the Functional Spectrum of Down Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 主要终点
- Folate Receptor Alpha Autoantibody (FRAA)
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Participant or guardian ability to consent/assent and willing to comply with protocol requirements
排除标准
- •Trisomy translocation or mosaics.
- •Untreated hypothyroidism
- •Known history of liver disease, renal disease, Hepatitis B or C or HIV
- •Recent infection with fever or requiring hospitalization within past 30 days.
- •Any medical condition, use of medications, nutrient or herbal supplements that would interfere with the study results as determined by the PI
- •Chemotherapy
- •Recent surgery (within 2 months)
- •Untreated Epilepsy
- •Any chronic medical/behavioral condition and/or treatments that may interfere with study related outcomes, as determined by PI
- •History of a significant adverse reaction to a prior blood draw
- •Any other historical event/information that may, in the opinion of the PI, be a reason to exclude the child from participation.
结局指标
主要结局
Folate Receptor Alpha Autoantibody (FRAA)
时间窗: 2 years
Serum will be collected for FRAA analysis on cases and controls
Thyroid Function
时间窗: 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
时间窗: 2 years
Examine 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. Dietary contributions will be evaluated on cases and controls
Mitochondrial Function Analysis
时间窗: 2 years
The Seahorse XR extracellular flux analyzer will be used to measure mitochondrial function in cases and controls
Metabolomics
时间窗: 2 years
Urine will be collected for metabolomics analysis on cases and controls
Microbiome Analysis
时间窗: 2 years
Stool will be collected for Microbiome Analysis on cases and controls
Immune Function
时间窗: 2 years
Salivary measurements of cytokines will be collected on cases and controls
Epigenetics
时间窗: 2 years
Epigenetics will be evaluated on cases and controls
Oxidative Stress Analysis
时间窗: 2 years
Thiol measurements will be collected and analyzed between cases and controls
次要结局
未报告次要终点