Posted by Friends of FSH Research on Aug 15, 2026
Update by Dr. Chamberlain
See also FSHD Blood Biomarker Development
Friends of FSH Research funded studies in the Chamberlain laboratory focused on investigation of potential blood biomarkers that can track the progression of facioscapulohumeral muscular dystrophy (FSHD). The most important finding was that increases in a particular immune cell product NE-DNA, which reflects inflammation caused by neutrophils, was linked to declines in muscle strength over a 2-year period. To our knowledge this is the first demonstration that a blood biomarker changes in parallel with a clinical measure of disease progression in FSHD, making NE-DNA a promising disease-monitoring biomarker. Another biomarker, GDF-15, was consistently elevated in FSHD patients compared with healthy controls and may be useful for detecting disease by testing blood samples. Studies of children with FSHD also revealed notable changes in NE-DNA over time, suggesting they may reflect a change in disease activity. In parallel, the team identified the presence of an abnormal neutrophil population coupled with signs of increased immune activation in some FSHD patients, providing additional evidence that innate inflammation plays an important role in the disease. These findings support further development of NE-DNA as an FSHD biomarker and suggests innate immune-targeted research as a focus for mechanistic studies and therapy development. This line of investigation could both provide a disease monitoring blood biomarker and provide an additional approach to a therapy for use in FSHD clinical trials.
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