PTC124 Drug Candidate Against Duchenne Muscular Dystrophy and Other Genetic Diseases

Filed in archive Drugs, Vaccines and Therapeutics , Gene Therapy on April 25, 2007

Scientists report of a new prototype drug, designed to treat Duchenne muscular dystrophy but which may be useful in the treatment of up 1800 different genetic diseases. The drug, called PTC124, has restored muscle function in mice trials.

Normal cells assemble amino acids into protein molecules essential for good health according to a "recipe" encoded into the DNA. In about 15 per cent of patients with DMD, a DNA "nonsense mutation" causes the cells to stop making the protein chains prematurely, rendering the proteins useless.

PTC124 fixes this by prompting the cells to ignore the stop mutations that tell them to end the protein chain, allowing themto complete the correct sequence.

Human trials of PTC124 are being conducted for DMD and cystic fibrosis. The authors of the study published this week in Nature, may also have potential in treating other genetic diseases due nonsense mutations.

See the full report from the Herald Sun or read the Nature manuscript, "PTC124 targets genetic disorders caused by nonsense mutations" (abstract free).