Extrait

Background and study aims 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 lesions. These lesions may lead to a high risk of early dementia, stroke or death. Little is known about the development of white-matter lesions and how they relate to other factors (e.g., age, sex or smoking) or how they are affected by treatment of Fabry disease with ERT. Salford Royal NHS Foundation Trust (UK) has a database of patients with Fabry disease in the northwest of England. The aim in this study is to look in detail at the relation between ERT and progression of brain lesions in Fabry disease so as to understand how the incidence and burden of the lesions change over time. Who can participate? Adults with Fabry disease who have had two MRI scans, 1 year apart What does the study involve? The size of the white-matter lesions will be measured over time and this information will be used alongside details of age, sex, risk factors for stroke/heart disease and treatment with ERT. What are the possible benefits and risks of participating? There are no known benefits or risks to participants taking part in this study. Where is the study run from? Salford Royal NHS Foundation Trust (UK) When is the study starting and how long is it expected to run for? From February 2015 to December 2015 Who is funding the study? Investigator initiated and funded (UK) Who is the main contact? Mrs Sharon Hulme [email protected]

Critère d'inclusion

• Fabry Disease

Liens

• ictrp
• isrctn