Posted by Friends of FSH Research on Jan 27, 2025
Update by Dr. Chamberlain
See also FSHD Blood Biomarker Development
Scientific research has established the underlying genetic cause of FSHD, but key steps in disease progression are not well understood. Previous studies in our laboratory have indicated that aspects of the inflammatory process could be altered in FSHD. Our objective for these studies is to assess the potential of 4 different inflammation related proteins and complexes to act as surrogates for FSHD disease and disease progression. If changes in biomarker levels in the blood can be linked to functional disease changes these tests could be used for tracking and predicting disease progression in individuals with adult and childhood FSHD to aid in clinical trial assessments for efficacy. We are also recruiting a small number of patients for a blood study to begin characterization of a particular blood cell and its potential role in FSHD as suggested by the relationship of a subset of these candidate biomarkers that could identify a future therapeutic target.
In earlier studies we established a blood test that distinguished FSHD blood samples from control samples from individuals without disease in small studies. Moving to a larger sample analysis of individuals at a single time point, the blood complex we identified continued to act as a diagnostic biomarker for FSHD compared to Duchenne muscular dystrophy blood levels and controls. For this project we completed analysis of test results from individuals spanning a year (time 0 and time 12 months) to determine whether 4 different candidate biomarkers will track FSHD disease progression relative to clinical functional outcomes measured at blood collection. We report an early indication of changes in FSHD functional muscle outcome measures correlating with a change in a candidate biomarker protein levels. To validate these findings, we have requested a larger patient matched sample set from the FSHD Clinical Trial Network with samples collect over a greater time period. The need for a longer time intervals for assessment has become clear from clinical studies that functional changes are not detected clearly before a 2-year separation of clinical outcome measurements. We also will extend our candidate biomarker studies to childhood FSHD blood samples to arrive soon and are putting in place procedures and FSHD patient blood donors to initiate pilot to characterize adult FSHD blood cell surface changes and activity. With these studies we will gain a better understanding of the relationship of these candidate biomarker proteins to changes in FSHD disease progression. If successful, a blood biomarker test to developed through these studies to evaluate disease status will be a quick and relatively non-invasive means of assessing clinical trial outcomes.
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