The experimental drug, developed by the Dutch pharmaceutical company Prosensa, is an “antisense” fragment of ribonucleic acid (RNA) that can mitigate the effects of a genetic mutation.

Patients with muscular dystrophy have one of several mutations in the gene that serves as the blueprint for a protein called dystrophin, which plays an essential role in muscle activity. Victims are usually wheelchair bound by the age of 12 and dead in early adulthood.

The antisense drug, called PRO051, binds to messenger RNA produced from the defective gene and enables the body’s protein-making machinery to produce a more effective form of dystrophin. While the newly produced dystrophin is not as active as that produced from an intact gene, doctors believe it will alleviate many of the symptoms of the disease, perhaps converting it to a milder form such as Becker’s muscular dystrophy.

Geneticist Judith C. van Deutekom of the Leiden University Medical Center and her colleagues studied four boys with a specific mutation in the dystrophin gene. A biopsy prior to the experiment showed that they had no dystrophin whatsoever in the tibialis anterior muscle in their legs.

Each received a single injection of PRO051 into the muscle. A biopsy of the site 28 days later showed that as much as 12 percent of the biopsied tissue was composed of functional dystrophin. Because of the localized area of the injection, however, not enough was present to alter muscle strength.

The patients suffered no adverse effects other than localized pain at the injection site.

The team now must devise a way to get the drug to muscle tissue throughout the body, perhaps by injecting it under the skin.

Experts cautioned that the therapy could be very expensive — as much as US$250,000 per treatment — and that it will need to be repeated at regular intervals over a patient’s lifetime.

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