Brain Connectivity Signatures of Behavior and Cognition in Duchenne Muscular Dystrophy

项目总结

PROJECT SUMMARY Therapies (drugs and genetics-based) in Duchenne Muscular Dystrophy (DMD) are targeted towards improving muscle function and arresting the progression of disease. As a result, the skeletal and even the cardiac musculature are well researched. However, studies focusing on brain structure have been sparse even though varying cognitive deficits have been reported across the spectrum. With advancing treatments, such as exon skipping, as well as steroid alternatives such as VBP15 moving to human trials, there is renewed optimism about improving the life expectancy and quality of patients with DMD. Consequently, a better understanding of the brain structure and its putative link with cognitive function becomes important. Our plan is to collect pilot brain imaging data in 36 children (24 children with DMD and 12 healthy controls, both 8~21 years) using cutting-edge imaging protocols from the Human Connectome Project. Our overarching goal is to identify a brain connectivity biomarker of cognition in DMD by investigating the potential of structural neuroimaging signatures and functional connectomic motifs and relating them to gene expression profiles in the brain.