Exciting Development in Potential Oculopharyngeal Muscular Dystrophy Treatment

A new gene therapy treatment may be on the horizon for Oculopharyngeal Muscular Dystrophy patients. Find out more below, or keep up with the original story at musculardystrophynews.com.

Oculopharyngeal Muscular Dystrophy (OPMD) occurs due to a rare mutation of the PABPN1 gene. PABPN1 is a gene that aids in the bonding of proteins and growth of cell nuclei. In the case of OMPD, the damaged gene causes muscular weakness in the eyelids and throat. Because OMPD affects under 200,000 people across the world, it is classified as an orphan disease.

This does not, however, mean that no one is searching for a cure. In 2014 Benitec Biopharma began a program of research targeting OPMD. This year they have announced a promising gene therapy technique. In the world of clinical testing, it is known as BB-301.

Gene therapy is an experimental technique. A few years ago it would have sounded like the stuff of science fiction. Instead of using drugs, or surgery, gene therapy allows for the literal insertion of genes into a person’s cells. Mutated genes can be replaced, malfunctioning genes can be turned off, or altogether new genes can be introduced.

Earlier in its research, Benitec collaborated with groups in London and Paris. Together, they tested a technique to turn off and replace mutated PABPN1. The treatment they were testing was known as a DNA-directed RNA interface. Using two viral vectors, researchers were able to restore muscular function in a mouse model. Before treatment, the mouse had suffered many similar symptoms to OPMD patients.

The new BB-301 builds off of the previous models and simplifies the carrier system. It still focuses on disabling and replacing defective genes, but now relied on a single-vector approach. Combining these methods has made BB-301 simpler to approach from regulatory and clinical perspectives.

Initial test results are even more exciting. The new approach has thus far been observed to eliminate 88 percent of the mutated gene, and restore normal genetic functioning by as much as 90 percent.

Benitec’s CEO, Greg West, is hopeful for this new therapy. The new single-vector approach is suspected to be as effective as its predecessor, but more sophisticated. It should be not only easier to regulate and continue trials on, but may also hold the key to developing therapies for other orphan diseases. West and Benitec are eager to get BB-301 advanced to clinical trials through the proper channels. They are working with many OPMD experts, opinion leaders, and regulators.

If approved by the United States Food and Drug Administration, BB-301 could enter human studies as early as 2018.

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