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Wednesday, June 23, 2010

Email from the makers of Ataluren, in regard to genetic TMAU

In the TMAU research proposal of Dr Christodoulou written a couple of years ago, he suggested PTC124 (now called Ataluren) could be tried on mice to see if it helps with TMAU caused by nonsense mutations. Ataluren is expected to overule the false 'stop' that nonsense mutations produce, while the protein is forming. The protein could then form correctly. It is already in the later stages of testing with genetic disorders such as cystic fibrosis. Normally, nonsense mutations make up a small % of genetic disorders, around 10-15%.

An email was sent to the company involved, PTC Therapeutics, asking if they thought it may someday be a treatement for TMAU caused by nonsense mutations. This was the reply:

Thank you for your email and your interest in ataluren (formerly known as PTC124) and for letting us know about your organization. We are currently conducting a Phase 3 study of ataluren in nonsense mutation cystic fibrosis and a phase 2a study in hemophilia.

Ataluren may have the potential to treat many genetic disorders in which a nonsense mutation is the basis for the disease. If the studies mentioned above yield positive results we hope to conduct clinical studies in additional genetic disorders. We do not have plans to do a trial in trimethylaminuria at this time.

If you would like to be added to our mailing list to receive updates about ataluren, please follow this link to the contact section of our website: http://www.ptcbio.com/5.0_contact_us.aspx . Be sure to check the box "receive PTC updates."
So far, the only side-effects reported seem to be nausea in some cases. More can be read about Ataluren research in pubmed.

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