Researchers at the University of Alabama at Birmingham (UAB) have found that an experimental drug called PTC124, which has already proven effective in treating patients with muscular dystrophy, can also help battle cystic fibrosis.
PTC124 "rescues" faulty proteins that lead to illness, thereby giving researchers hope that it will be able to treat an excess of 2,400 genetic diseases caused by a certain class of DNA mutation.
Carrying out a research on mice, the team of boffins led by David Bedwell, Ph.D., found that the drug restored up to 29 percent of the cases of abnormal cystic-fibrosis (CF) protein to normal function.
"Our study shows strong pre-clinical evidence that PTC124 is capable of suppressing 'nonsense mutations' that cause cystic fibrosis," Dr Bedwell said.
"We think this provides strong evidence for clinical trials with PTC124 in CF patients with this kind of mutation," he added.
In the case of CF, the absence of a certain protein leads to an imbalance of salt and water in the linings of the lungs and other membranes.
UAB researchers carrying out the study found that the drug allowed the protein to be made in mouse cells where it was previously absent, and it was delivered in a specific location that helped restore salt and water balance in membranes.
"The preclinical and clinical data on PTC124 support our hope that this drug will be an important disease-modifying therapy for cystic fibrosis," said Robert J. Beall, Ph.D., president and chief executive officer of the Cystic Fibrosis Foundation in Bethesda, Md.
Dr Bedwell added that the drug PTC124 was also found to be highly selective for fixing only disease-causing mutations, and sparing normal genes.
The findings are published in the online version of the journal Proceedings of the National Academy of Sciences.