(November 22nd 2024) Important new research is to be undertaken by a Consultant Neurologist at Tallaght University Hospital (TUH) to find out if blood tests can be used to diagnose Alzheimer’s disease in people with Down syndrome. Dr Antoinette O’Connor hopes this new study will also support future investigation of whether new medications to slow the progress of Alzheimer's could be effective for those with Down syndrome.
This new study is necessary as people with Down syndrome have a significant risk of developing Alzheimer’s disease (AD). Recently new drugs have come on stream which have been shown to slow the progression of Alzheimer's for those in the early stages of the disease. The challenge for doctors is to determine if individuals with Down syndrome can also benefit from these treatments.
In order to properly test these treatments, there will need to be carefully designed studies. Traditional tests, cerebrospinal fluid sampling, and brain scans are invasive and expensive, therefore it would be easier for participants if blood tests could be used to detect and track potential treatment effects.
Dr O’Connor says, “We are entering a new era in AD treatment– for the first time there are therapies that can slow disease progression. Frustratingly, people with Down syndrome have been routinely excluded from AD drug trials, despite urgent clinical need in this population. Therefore, we do not know if these potentially life-altering treatments work in Down syndrome.”
The TUH Consultant Neurologist says, “Robust clinical trials involving those with Down syndrome will need to be undertaken to track the changes in them caused by Alzheimer's disease. These measures of change are called biomarkers. Blood tests represent an ideal AD biomarker as they are cheap, accessible and repeatable.”
Several important questions must be answered before blood tests for AD can enter routine use for those with Down syndrome. Dr O’Connor's new research study will address some of these, specifically:
- What blood tests are the most promising for the detection of AD in Down syndrome?
- Do blood test levels vary from day to day and does this variability impact their ability to diagnose AD and/or track change?
- What role does inflammation play in driving AD onset?
- How long, and how many people, are required to participate in AD clinical trials to show a treatment effect in Down syndrome?”
This new study will answer these questions by reviewing previous blood biomarker studies in people with Down syndrome and by collecting repeated blood samples from study participants. These blood samples will also enable Dr O’Connor and her team to investigate the role of inflammation in AD which could potentially open up new treatment avenues.
The Deputy CEO of TUH John Kelly who is also the executive lead for Research & Innovation at the Hospital says, “This kind of research is important as it can result in medical breakthroughs which can lead to the discovery of life-changing treatment. We at TUH are delighted to host this cutting-edge study as Dr O’Connor and her team strive to improve care for Down syndrome patients with Alzheimer's. This study reflects our commitment to the discovery of new treatments for wider health improvements.”
The research which will be undertaken at TUH, has been funded by the Health Research Board under their Emerging Clinician Scientist Award.
