Project 2: Determine the Natural History of Dystroglycanopathies and Improve Clinical-Trial Readiness for these Diseases

Lab doorPrincipal Investigator: Dr. Katherine Mathews

Dr. Mathews is identifying and characterizing dystroglycanopathy patients while developing an infrastructure for therapeutic trials in defined cohorts.  

The overall goal of this project is to improve care of patients with dystroglycanopathies. At present, there is no specific treatment for these patients and management is largely symptomatic. We anticipate that treatment trials will be initiated in the near future. This project moves toward improved care through extending current knowledge about disease manifestations and variables that impact progression through a natural history study; optimizing clinical outcome measures required for clinical trials; and identifying and validating biomarkers responsive to disease stage and progression using state-of-the-art detection methods. As a result of the work in this project, patients with a dystroglycanopathy will receive better clinical care now and in the future, as we use the data collected to design trials that test novel interventions. 

Dr. Mathews' Faculty Profile