New Drug May Treat Muscular Dystrophy
Drug Targets Gene Glitch Seen in Genetic Disorders Including Duchenne Muscular Dystrophy
April 23, 2007 -- An experimental drug called PTC124 may override a gene
glitch seen in Duchenne muscular dystrophy and various other genetic
Duchenne muscular dystrophy is one of nine major forms of muscular
dystrophy. It's the most common type of muscular dystrophy in children and
In Duchenne muscular dystrophy, the muscles decrease in size and grow weaker
over time yet may appear larger. Disease progression varies, but many patients
need a wheelchair by the time they're 12 years old.
The new drug, called PTC124, isn't available yet, but clinical trials are
currently under way.
Today, researchers posted the results from lab tests in mice with a genetic
glitch like one seen in a large group of genetic disorders, including Duchenne
The gene glitch hampers the production of dystrophin, a protein needed for
muscle development. PTC124 is designed to override that gene glitch, putting
dystrophin production back on track.
In lab tests, mice with muscular dystrophy (MD) got PTC124 orally and/or by
injection for two to eight weeks.
"Enough dystrophin accumulated in the muscles of the MD mice so that we
could no longer find defects in the muscle when we examined them,"
researcher H. Lee Sweeney, PhD, says in a news release.
Sweeney chairs the University of Pennsylvania's physiology department.
"For all intents and purposes, the disease was corrected by treatment
with PTC124" in the mice, Sweeney says.
If PTC124 succeeds in human tests, it may help treat Duchenne muscular
dystrophy and similar genetic disorders, note the researchers, who included
scientists from PTC Therapeutics, the company that makes PTC124.
The study appears in the advance online edition of Nature.