dna icon Down Syndrome Biomarkers and Interventions Study - Arkansas Children's Hospital

Why are some people with Down syndrome high functioning and others more severely affected and low functioning? In other words, why there is a spectrum of cognitive function and abilities within the same syndrome? This is the basic unanswered question in Down syndrome research. 

Finding answers to this question should yield new insights into intervention strategies to improve the debilitating conditions that negatively affect the health and quality of life for many people with Down syndrome (DS) and their families.

We are very pleased to announce that we have funded a large scale study into Down Syndrome biomarkers and possible interventions. Run from Arkansas Children's Hospital and their Research Institute under Co Principal Investigators:

S. Jill James PhD
Research Professor, Department of Pediatrics
University of Arkansas for Medical Sciences

Kent McKelvey Jr. MD
Associate Professor of Family Medicine and Genetics
at University Arkansas for Medical Sciences

The long term goal of our research in people with Down syndrome is to identify and address the metabolic, mitochondrial and epigenetic abnormalities that have been linked to reduced energy level, cognitive deficits and preclinical Alzheimer’s dementia in individuals with Down syndrome. No previous study has focused on identification of preclinical biomarkers in order to define targeted treatments to prevent or delay the onset of these debilitating conditions that negatively affect the health and quality of life for many people with Down syndrome and their families. 

This novel research approach will provide unprecedented new knowledge for the design of treatments to improve cognitive/functional abilities of people with Down syndrome as well as to delay or prevent common medical co-morbidities. Our hypothesis and specific aims are based on strong preliminary evidence and will be accomplished in two phases: 

Phase 1 will be a case-control cross-sectional study of the baseline metabolic profiles of people with Down syndrome (3 copies of chromosome 21) compared to archived data on age-matched controls (with 2 copies of chromosome 21).

The metabolic data generated in Phase 1 will give us the opportunity to define plasma biomarkers that distinguish people with DS from unaffected controls and to better understand the range of metabolic abnormalities in this cohort. Phase 2 will follow Phase 1 and will be an intervention trial of selected supplements based on our preliminary evidence from Phase 1 and the extensive literature indicating that individuals with DS exhibit plasma biomarkers of oxidative stress as well as mitochondrial and epigenetic abnormalities. 

Phase 2 will be designed to optimise these abnormalities with targeted supplements and to determine; 1) whether biomarker improvement can occur with treatment and 2) whether treatment can improve cognition/behaviour, and 3) whether biomarker improvement is associated with cognitive/behavioural improvement. We anticipate that successful outcome of Phase 1 and subsequently Phase 2 will lead to individualised intervention strategies to improve future health and delay/prevent onset of dementia in people with DS.