Project 2: Clinical Trial Readiness for the Dystroglycanopathies
Principal Investigator: Dr. Katherine Mathews
Dr. Mathews is gathering information and creating the infrastructure to plan and carry out clinical trials for patients with deficient glycosylation of alpha-dystroglycan.
This collaborative project involves collecting data and creating an infrastructure that will facilitate translation of possible treatments to clinical trials. The dystroglycanopathy population poses special challenges in thinking about treatment trials due to the wide range in clinical severity. In cooperation with Core B, we are evaluating muscle biopsies, defining patients' alpha-dystroglycan glycosylation status in cultured fibroblasts, and determing their genotype.
Dr. Mathews' Faculty Profile