Experimental Drug Offers Hope for Cystic Fibrosis Patients
Ataluren being tested in humans with several diseases caused by genetic mutations
TUESDAY, April 27, 2010 (HealthDay News) -- An experimental oral drug called ataluren may treat cystic fibrosis and other diseases caused by genetic "nonsense mutations," U.S. researchers report.
Nonsense mutations disrupt the way cells make proteins. About one-third of gene defects linked to human disease are believed to come from nonsense mutations, and ataluren holds promise for treating more than 2,400 such disorders, the study authors noted.
In cystic fibrosis, the lack of a certain protein results in an imbalance of salt and water in the linings of the lungs and other membranes. In this new study, researchers found that ataluren allowed the protein to be made in mouse cells where it was previously absent, which helped restore normal salt and water balance.
"When you treat a genetic disease, the bottom line is how much of the missing protein do you need to restore to have a therapeutic benefit," researcher David Bedwell, a professor in the microbiology department at the University of Alabama at Birmingham, said in a university news release.
"It comes down to the threshold of protein rescue. For some diseases, it might be 1 percent of protein you need restored, and for other diseases you may need 50 percent of protein restored," he explained.
Bedwell found that ataluren can restore up to 29 percent of normal protein function in mice with cystic fibrosis. The research, funded by PTC Therapeutics Inc., was presented April 26 at the Experimental Biology 2010 conference in Anaheim, Calif.
Ataluren is now being tested in humans with cystic fibrosis, hemophilia A, hemophilia B, Duchenne/Becker muscular dystrophy and other conditions.
The Cystic Fibrosis Foundation has more about cystic fibrosis.