Ataluren trials doing well in phase 2 trials

We have written before about the drug Ataluren, which is undergoing trials to prove it's efficacy and safety. It is a drug by PTC Therapeutics which seems able to overrule the false stop that happens in nonsense mutations (which result in immature proteins).

Nonsense mutations usually cause a severe form of whatever protein they cause to form incompletely, but usually make up only around 5-10% of the genetic cases of any disorder. This is probably true for FMO3 protein formation too. For example, of the 532 amino acid sequence that makes up an FMO3 protein, there is known to be a nonsense mutation possible at amino acid 148, which causes the protein to stop formation there.  

The trials have reached phase 2 of the 3 phases usually undergone by a new drug. They have just released an update of how the phase 2 trial went in the case of the genetic disorder Cystic Fibrosis. It seems to have gone well.

"...These encouraging data demonstrating statistically significant pharmacodynamic activity support the potential of ataluren for a significant subset of severely affected CF patients," stated Professor Michael Wilschanski, Director, Pediatric Gastroenterology, Hadassah University Hospital. "The results are important because they suggest that ataluren promotes the production of full-length, functional cystic fibrosis transmembrane conductance regulator (CFTR) protein and addresses the underlying cause of the disorder. Currently available treatments for cystic fibrosis only address symptoms, and new therapies such as ataluren are urgently needed..."

Ataluren press release July 1

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http://en.wikipedia.org/wiki/Ataluren
http://en.wikipedia.org/wiki/Nonsense_codon