EDD-29: Neurodegeneration in Ageing Down’s syndrome (NiAD)
Type of Research
Multi-centre longitudinal study that will take place over five-years using a cohort of people with DS aged 25 and over.
Down Syndrome (DS) occurs in 1 in 800 to 1000 live births and is caused by having an extra copy of chromosome 21. This results in symptoms such as intellectual disability with varying severity among patients. Many health complications are associated with DS, including an increased risk of Alzheimer’s Disease (AD): a correlation is most likely due to the fact that the amyloid precursor protein (APP) gene is found on chromosome 21. APP is then processed and broken down and overproduction of APP in DS, increases the likelihood of toxic beta-amyloid being produced, an established marker of AD pathology. In almost all people with with DS, deposits of tau and A-beta protein are seen in their brains. However it is much later before the clinical symptoms start to present. By this time, there is a reduction in the effectiveness of disease-modifying treatments, demonstrating the need for a greater understanding of pre-clinical pathophysiological changes. Through monitoring the pre-clinical changes that occur in the DS population, we expect to identify early indicators (biomarkers) that can be used to predict who will develop clinical AD.
This study will be a multi-centre longitudinal study that will take place over five-years using a cohort of people with DS aged 25 and over. We aim to measure levels of brain tau and A-beta using magnetic resonance imaging and positron emission tomography (PET) using the tracers 18F AV (tau) and 11C PiB (amyloid) every 16 months. To monitor cognitive function a neuropsychological battery will also be applied alongside caregiver questionnaires. Other measurements, such as electroencephalography (EEG) and blood and spinal fluid samples will also be taken at regular intervals over the 5 years.
The other institutes working on the study are the University of Pittsburgh, Madison-Wisconsin and Banner Alzhiemer’s Institute.
For further information on this project, contact Dr Isabel Clare, Consultant Clinical & Forensic Psychologist, NIHR CLAHRC East of England; and Cambridge Intellectual & Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge