University of Florida Study: Barth Syndrome Gene Therapy Preclinical Results Look Good

A University of Florida research team has announced its results of a gene replacement therapy in the treatment of Barth syndrome, which delivered promising results in its initial phase of testing.

What is Barth Syndrome?

Barth syndrome is a rare, metabolic, and neuromuscular disorder that occurs exclusively in males, since it is passed from mother to son through the X chromosome. The main characteristics of the condition include abnormalities of heart and skeletal muscle, low levels of certain white blood that help to fight bacterial infections, and growth retardation.

To learn more about Barth syndrome, click here.

Details About the Study

The findings, published in an online version of the journal Human Gene Therapy, showed efficacy in providing the necessary levels of gene expression and improving heart and skeletal muscle function in both young and adult Barth mice (the test subjects).

In Barth syndrome patients, mutations in a specific gene deprive the heart and skeletal muscles of the ability to efficiently perform their highly energetic functions.

This is the first time that a potential treatment has been shown to mitigate many aspects of Barth syndrome, marking a major milestone in Barth research.

To learn more about this study on UF Health, click here!


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