Project 2
Clinical Trial

Principal Investigator: Jeffery Chamberlain
Co-Investigator: Stan Riddell, Leo Wang, Rabi Tawil, Seth Friedman, Stephen Tapscott, Dennis Shaw, Sandy Poliachik and Michelle Schaffer

This project relates to the broad scope of the Center because it develops the clinical infrastructure necessary for future gene therapy trials in Duchenne and FSHD dystrophies at the University of Washington, and for future inter-institutional trials in muscular dystrophies. In addition it provides a rich translational clinical research program for the Investigator Development and Patient Outreach Core and it uses vectors produced by the Scientific Research Resource Core.

One of the aims of this project is a cooperative clinical study for biomarker evaluation in FSHD that will develop FSHD patient registration, assessments, and sample collection in Seattle that parallel those developed in Rochester; develop FSHD MRI assessment capabilities in Rochester that parallel those developed in Seattle; and perform a focused collaborative clinical study to determine the molecular determinants of the MRI findings characteristic of FSHD and to prioritize the best candidate biomarkers for disease activity.

Additonally we are working to determine whether CD8+ T cells infiltrating FSHD muscle recognize DUX4 induced cancer/testes (C/T) antigens, and to characterize the phenotype, location, and cytokine profile of the T cell/immune cell infiltrate in skeletal muscle in FSHD. We are also doing research which will expand T cells from FSHD muscle, determine the T cell receptor Vb gene usage and characterize their function; and determine whether T cells derived from FSHD muscle recognize FSHD muscle antigens. These combined studies represent a synergistic effort to evaluate the relationship between tissue biomarkers, histopathology, MRI imaging characteristics, and muscle function, together with a direct characterization of the T cell infiltrate the immune response in the pathophysiology of FSHD.

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