Ataluren receives validation of marketing approval by EMA

Ataluren, a new drug made by PTC Therapeutics, yesterday announced that it had received validation of a marketing authorization application for Ataluren by the European Medicines Agency (EMA) for the treatment of Duchenne Muscular Dystrophy  (DMD).

This seems to mean that it is at least being considered for approval which will ultimately lead to it's approval for sale by the EMA. Although in this case it is being marketed for nonsense mutations in DMD, it should in theory be of some help to people who have a nonsense mutation of any genetic disorder. Typically, nonsense mutations make up about 5-10% of cases of a genetic disorder, and with FMO3 mutations it is likely to be around this amount.

missense and nonsense mutation analogy

Nonsense mutations are a 'severe' type of mutation. In the case of FMO3, which is a 532 amino acid sequence, it means that a false stop is inserted into the 532 sequence somewhere in the sequence (rather than at the end where a stop codon should be), and the FMO3 protein does not then get properly formed.

So this is an exciting milestone announcement by PTC Therapeutics, but presumably it still has a way to go before being a drug available in Europe.  

Official press release for the Ataluren announcement  
PTC page on Ataluren
Wikepedia entry for nonsense mutation