Retinal biomarkers for Alzheimer's disease in Down's syndrome
Research type
Research Study
Full title
Retinal cell degeneration as biomarkers in the eyes: a proof of concept study in people with Down's syndrome, a high risk population for Alzheimer's disease
IRAS ID
135131
Contact name
Madeleine Walpert
Contact email
Sponsor organisation
University of Cambridge and Cambridgeshire and Peterborough Foundation Trust (joint sponsor)
Duration of Study in the UK
2 years, 6 months, 26 days
Research summary
Down’s syndrome (DS) is the only known disorder with a high prevalence of Alzheimer’s disease (AD) development, 50% of individuals are diagnosed with clinical AD by their 5th decade (Holland et al., 1998). Using optical coherence tomography (OCT) this study will investigate: (a) age-related optical degeneration and changes in people with DS and healthy controls and (b) whether observed changes are associated with the pathological development of AD.
The retinal nerve fibre layer (RNFL), macula and superior optic nerve fibre layer are known to deteriorate during AD in the general population (Paquet et al., 2007; Valenti, 2011). OCT is a high quality method of imaging the retina non-invasively, which is used to assess the thickness of the RNFL and other parameters of the eye (Guo et al., 2010). We will include a pilot study (n=10) to establish the feasibility of using OCT scans in people with DS. Participants will be asked to complete a short questionnaire about the scan and if necessary the technique will then be modified in light of this feedback. For the cross-sectional part of the study we will recruit 30 adult participants with DS and 30 age-matched healthy controls. Participants with DS will be sub-divided into three groups: (a) those with dementia, (b) those with some cognitive decline and (c) those with no cognitive decline. This will enable age-related changes in the eye to be characterised and determine whether such changes are quantifiable biomarkers associated with dementia.
The purpose of this study is to identify early indicators of AD in people with DS that can be visualised non-invasively. The findings of this project could be extended to the general population and form part of a longitudinal assessment tracking AD progression over time.REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
14/EE/1118
Date of REC Opinion
3 Nov 2014
REC opinion
Further Information Favourable Opinion