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FDA Awards $2.4M to Vanderbilt Researcher for Duchenne Muscular Dystrophy Biomarker Study

NEW YORK — The US Food and Drug Administration has awarded researchers from Vanderbilt University a roughly $2.4 million grant to identify genetic and other biomarkers that can be used to determine the severity and progression of cardiac dysfunction associated with Duchenne muscular dystrophy (DMD).

DMD is a rare, genetic disease that primarily affects males. It is caused by mutations in the gene that encodes dystrophin, a protein involved in muscle fiber strength and maintenance. The disease is characterized by progressive weakness and loss of skeletal and heart muscle, and can result in life-threatening respiratory and cardiac complications.

With the four-year grant funding, Vanderbilt's Jonathan Soslow and colleagues will collect and analyze DNA from a large-scale DMD registry to discover genetic variants that determine the severity of disease-related cardiomyopathy, according to the grant's abstract. They will also look for serum markers of DMD cardiomyopathy severity, as well as serum and imaging measures of myocardial fibrosis that indicate changes in cardiac function.

Results from the project are expected to yield surrogate markers that can be used to track the progression of DMD-linked cardiomyopathy, with the goal of improving the efficiency of DMD clinical trials. The work may also help advance research in other related diseases such as Becker muscular dystrophy and in female mutation carriers.