Novel biomarker for determining disease activity or prognosis of facioscapulohumeral muscular dystrophy
AssigneesAvidity Biosciences, Inc., Fred Hutchinson Cancer Center
InventorsDavid Anthony CANTON, Xueqing LIU, Yiming ZHU, Stephen TAPSCOTT, Sean BENNETT
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Abstract
Disclosed herein is a novel biomarker and methods for determining the disease activity and prognosis of facioscapulohumeral muscular dystrophy (FSHD) using the novel biomarker.
Claims20
A method of evaluating facioscapulohumeral muscular dystrophy (FSHD) disease activity and prognosis of a subject comprising measuring circulating KH homology domain containing 1-like (KHDC1L) protein expression levels in the subject, and evaluating FSHD prognosis of the subject based on the circulating KHDC1L protein expression levels.
A method of determining a change in DUX4 expression in a cell comprising measuring KHDC1L protein expression level, wherein the KHDC1L protein is secreted from the cell.
Dependencies are inferred from the claim text.