nonsense mutations

Ataluren (PTC124) for Duchenne-Becker MD related to premature stop codons did not receive approval in Europe prior to completion of an ongoing phase 3 trial

posted on January 31, 2014 - 10:15am
The experimental drug ataluren, in development for Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) caused by specific mutations in the gene for the dystrophin protein, will not receive conditional approval at this time from the European Medicines Agency (EMA). Ataluren's developer is requesting that the EMA re-examine the data.

An increase in dystrophin was seen in a foot muscle in 61 percent of boys with nonsense-mutation DMD treated with ataluren in an MDA-supported study

posted on January 15, 2014 - 9:47am
An increase in levels of the dystrophin protein was seen after treatment with the experimental drug ataluren (originally called PTC124) in an MDA-supported, phase 2a, open-label trial of 38 boys with Duchenne muscular dystrophy (DMD) caused by a specific type of mutation in the dystrophin gene.

Although the experimental Duchenne-Becker MD drug ataluren appeared to benefit walking ability in a clinical trial, some researchers question whether it works via stop codon read-through

posted on July 3, 2013 - 3:37pm
It's been widely accepted that the mechanism by which the experimental drug ataluren appears to benefit walking ability in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is that it causes "read-through" of premature stop codons — genetic instructions that cause cells to stop making a protein before the process is complete.

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

The experimental drug ataluren, developed to overcome nonsense mutations in Duchenne and Becker MD, did not meet its primary end point in a large-scale human trial

posted on March 3, 2010 - 4:55pm
The biopharmaceutical firm PTC Therapeutics announced March 3 that ataluren, its experimental drug for certain forms of Duchenne (DMD) and Becker (BMD) muscular dystrophy, although safe and well tolerated, failed to meet its primary end point within the 48-week duration of the phase 2b trial. That end point was an improvement in how far boys with DMD or BMD could walk in six minutes.

PTC Therapeutics, with support from MDA, is testing ataluren in boys with DMD or BMD who have nonsense mutations and are no longer walking.

posted on January 19, 2010 - 9:33am
Update (March 3, 2010): An update to the article Ataluren Results Disappointing was posted.