Assessment of Cognitive Function in Individuals with Fabry Disease
Research type
Research Study
Full title
Assessment of Cognitive Function in Individuals with Fabry Disease
IRAS ID
181973
Contact name
Derralynn Hughes
Contact email
Sponsor organisation
Royal Free London
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Fabry disease is a rare, sex-linked lysosomal storage disorder caused by reduced activity of α-galactosidase A. Dysfunction of this enzyme leads to accumulation of glycolipids which damage multiple organs, including the brain, heart and kidneys.
Fabry disease is associated with multiple neurological and psychiatric symptoms that have a considerable impact on quality of life. For example, build-up of glycolipids causes abnormalities in the cerebral vasculature leading to increased risk of stroke. In addition, cognitive defects have been described, specifically in executive functioning, information processing speed and attention.
We aim to perform a longitudinal study to assess cognitive function in patients with Fabry disease over a 5 year period using the National Institutes of Health (NIH) Toolbox Cognition Battery. This battery comprises of 7 computerised tests which examine a range of cognitive domains, namely executive function, attention, episodic memory, language, processing speed and working memory. Adult patients attending clinic at the Royal Free Hospital Lysosomal Storage Disorders Unit will be invited to participate in the study. Participants will be asked to complete the battery roughly every 12 months for 5 years. Each study visit will last approximately 35 minutes.
REC name
London - South East Research Ethics Committee
REC reference
16/LO/0040
Date of REC Opinion
29 Apr 2016
REC opinion
Further Information Favourable Opinion