Brain imaging and cognition in DMD
Research type
Research Study
Full title
Brain imaging and cognition in patients with Duchenne Muscular Dystrophy
IRAS ID
187858
Contact name
Volker Straub
Contact email
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Duchenne muscular dystrophy (DMD) is a debilitating disease characterized by progressive muscle weakness and a severely reduced life expectancy. In these patients the dystrophin gene is affected which is normally expressed not only in their muscles, but also in their brain. About 30 to 40% of the DMD patients show learning disabilities especially problems with automatisation, working memory and reading problems. Recently, studies using quantitative magnetic resonance imaging (MRI) and neuropsychological examination (NPE)have shown differences in impairment between genetic dystrophin mutations in DMD.
Cognitive impairment in DMD is thought to be non-progressive, however, the relationship between age and intellectual functioning is still a matter of debate. In this study, we aim to longitudinally study the brain in DMD patients to assess progression, to test the hypothesis that more severe structural and functional alterations are present in the brain of a sub-group of DMD boys with mutations that seem to be worst affected by impairment compared to age-matched healthy and disease controls.
We will perform quantitative MRI scans and NPE assessments on the participants and hypothesize that certain dystrophin mutations will present with additional neuro-anatomical and psychological features, extending our understanding of dystrophin function in the brain. Patient will be recruited from 1 site in the UK.
REC name
North East - York Research Ethics Committee
REC reference
15/NE/0378
Date of REC Opinion
15 Jan 2016
REC opinion
Further Information Favourable Opinion