FSHD Blood Biomarker Development

Investigators: Joel R Chamberlain PhD, Darren Bisset BS, Christian Lood PhD, Jorge A. González Chapa MD PhD

Category: Research - Basic

FSHD is a slow progressing disease which presents a challenge in evaluating the changes that occur over time in individual patients. Disease worsening can occur on the order of 1-2 years or become stable for many years. To narrow patient selection for testing candidate therapies it is important to identify individuals expected to worsen over a relatively short period to evaluate a therapeutic effect. A quick and non-invasive method for monitoring disease progression is tracking blood components that act as surrogates, or biomarkers, of disease. Our efforts in developing a blood test to track FSHD began with studies in a mouse model we developed based on muscle delivery of a DUX4 gene. We discovered the elevation of immune processes in the mice that also could be detected in the blood of patients with autoimmune conditions. Tests of FSHD blood also revealed a significant amount of the immune related blood components not found in DMD blood. With this study we will continue to analyze the change in the level of our candidate biomarkers over time with the change in clinical functional measurements as a means of determining the usefulness of the biomarkers as a non-invasive means of monitoring disease progression and response to therapy testing.