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Posted by Amanda Rickard on May 14, 2016
What should we use to track the benefits of a treatment in clinical trials for FSHD? When muscle cells are damaged in patients with muscular dystrophy they release proteins into the blood stream, called “biomarkers”. A new publication from Dr. Daniel Miller’s lab has compared the concentrations of 1129 different proteins in blood from FSHD-affected and unaffected individuals. They teamed up with SomaLogic, a company that designs fluorescent probes for proteins that have previously been used to identify blood biomarkers for Duchenne Muscular Dystrophy.
It’s very important that potential biomarkers for FSHD are consistent across different groups of patients and different clinics where the blood is drawn. Research groups from the University of Rochester in New York and the Seattle Children’s Hospital collected and processed blood from volunteers, and six biomarkers for FSHD were identified in common between the two groups (“cohorts”). These proteins were higher in blood from FSHD patients than they were in blood from control unaffected individuals. Then, the groups compared the levels of each of those proteins to the state of disease in FSHD patients by looking at a severity score number assigned by a doctor and muscle loss findings by MRI. They found that four proteins had blood levels that correlate with severity of FSHD, where the protein concentrations were higher in blood from those with severe disease and lower in the blood of those with milder symptoms.
This study gives future clinical trials an endpoint – doctors can measure the effects of an FSHD treatment by monitoring the blood level of these four proteins, the severity symptoms, and the muscle MRI pictures. Their next step is to follow these patients to measure how the biomarkers change over time.