Posted by Friends of FSH Research on May 25, 2025
Update by Dr. Chamberlain
See also FSHD Blood Biomarker Development
We are setting up for a blood draw of a second group of patients, currently looking at early disease stage where we are more likely to see immune changes in the blood. The first 3 patients did not show any change in the immune cells we are examining for activation and surface protein changes. This is not too surprising, as it is more likely a tissue based phenomenon (muscle) that leaks proteins and DNA from these cells into the blood, rather than the cells themselves. So these cells in the blood don’t show the changes seen in other inflammatory disease, but they do make enough cell products, probably from inside the muscle that leak into the circulation, to pick up with the sensitive ELISA assay we’ve been doing using patient plasma. With the additional patients we want to confirm that there is no changes in the cells in blood before we move to the more difficult tissue analyses of these cells inside the muscle.
We are proceeding with the new studies on patient plasma obtained recently from Jeff Statland. Those assays will be completed in the next week we are estimating and are now just waiting for one of the reagents to arrive from a company for the test.
There has been a delay in getting the childhood FSHD samples from Australia. All samples are collected but processing them and aliquoting has been slow due to other activities of the doctor/reseacher handling these precious samples.
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