Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.

394delTT and Ataluren

Question
My two children (aged 6 months and 2.5 years old) have cystic fibrosis and one of their mutations is the class I frameshift mutation 394delTT (a.k.a., the scandinavian mutation). 394delTT encodes a stop codon in axon 4.

Is it possible that Ataluren (by supressing the stop codon) could enable the production of partially or fully functioning CFTR?
Answer
Dear Questioner
Ataluren, previously known as PTC124, is a novel agent which is effective in overcoming premature stop codons in the generation of functional CFTR. We know that it is not effective with all stop mutations, and to date it has been studied solely in those individuals with CF caused by nonsense mutations. Initial results from phase 2 clinical trials have indicated that ataluren resulted in production of CFTR protein and significant improvements in chloride channel function. Ataluren therapy was associated with significant reductions in cough frequency and there was a trend towards an improvement in lung function.[1] There have not been any studies specifically for class 1 frameshift mutations, and so at present it is not known if ataluren would be effective for these particular individuals as well.

1. www.ptcbio.com/ataluren/


Best regards
Dr David Cromer
03.07.2012
The answer is edited by: David Comer