Retinal investigations in Down's syndrome
Research type
Research Study
Full title
Investigating aspects of the eye and retina in people with Down's syndrome as potential biomarkers of Alzheimer's disease related change.
IRAS ID
240976
Contact name
Madeleine Walpert
Contact email
Sponsor organisation
University of Cambridge and Cambridgeshire and Peterborough Foundation Trust
Clinicaltrials.gov Identifier
11/EE/0118, REC reference number
Duration of Study in the UK
1 years, 3 months, 0 days
Research summary
People with Down’s syndrome (DS) have a very high prevalence for the early-onset of Alzheimer’s disease (AD). 100% of people show the neuropathological hallmarks of the disease in the brain and typically 40% of individuals are diagnosed with dementia by the fourth decade. It is well established that changes in the brain precede the clinical symptoms of AD by years or decades, identifying more precise markers of change will allow clinical trials to determine efficacy of therapeutics faster and more efficiently, greatly improving the process of Alzheimer’s drug research. Research in the retinas of patients with AD have shown marked decrease in retinal thinning in those with the disease, compared to healthy age-matched adults, and some research has suggested that retinal changes could precede those in the brain.
Research from this group has identified a thicker retina in people with DS in comparison to age-matched controls, furthermore, typical age-related thinning patterns were not observed in the DS group. In order to establish the nature of these features in the DS retina, further investigations in the eye are proposed. People with DS have lifelong over-production of amyloid-beta (Aβ), a protein highly implicated in AD. Part of the investigations in this study are to image Aβ deposits in the retina.
This Alzheimer’s Research UK funded study will use non-invasive retinal imaging methods to investigate retinal structure and features in an adult cohort of people with DS. This study will also provide longitudinal retinal thickness data in a subset of participants who have previously participated in studies with this research group. Participants will be imaged one time during this study and will undergo cognitive testing to determine dementia. This study will run in collaboration with the “Deep and Frequent Phenotyping” study (Reference 17/SC/0315).REC name
East of England - Essex Research Ethics Committee
REC reference
18/EE/0118
Date of REC Opinion
6 Jun 2018
REC opinion
Further Information Favourable Opinion