White-matter lesions in Fabry disease
Research type
Research Study
Full title
Enzyme replacement therapy and progression of cerebral white-matter lesions in Fabry disease: an observational MR imaging study
IRAS ID
172509
Contact name
Craig Smith
Contact email
Sponsor organisation
University of Manchester
Duration of Study in the UK
0 years, 6 months, 30 days
Research summary
Fabry disease is an inherited disorder that results from the build-up of a particular type of fat (globotriaosylceramide) in the body's cells. Beginning in childhood, this build-up causes signs and symptoms that affect many parts of the body including the brain. In the brain, small groups of dead cells clump together in the white matter and are known as white-matter lesion (WML). These may lead to a high risk of early dementia, stroke or death. Little is known about development of WML and how these relate to other factors e.g. age, sex, smoking or how they are affect by treatment for Fabrys disease using enzyme replacement therapy (ERT).
Doctors at Salford Royal NHS Foundation Trust hold a database of patients within the North West of England with Fabrys disease. The research team will look in detail at those patients in the database who are receiving ERT and who have had routine brain imaging performed on at least two occasions, one year apart. They will measure changes in the size of the WML over time and, using this information alongside details of age, sex, risk factors for stroke/heart disease and treatment with ERT, it will help the research team begin to understand how the incidence and burden of WMLs change over time in patients with Fabry disease. This could in time, lead to improved and targeted treatments for patients.
REC name
West Midlands - South Birmingham Research Ethics Committee
REC reference
15/WM/0064
Date of REC Opinion
19 Feb 2015
REC opinion
Favourable Opinion