Chat with PTC representative about ataluren

We have had our chat with a PTC representative about ataluren and how the TMAU community could be best prepared to promote research into its use for TMAU cases with nonsense mutations. Nothing concrete came out of the dialogue, although hopefully we have made our case known to PTC at least, and the discussion itself was convivial. The representative was from the Customer Relations Department of the Company.

Here is a summary of the points discussed :

The representative pointed out that ataluren would only be potentially beneficial to those with genetic disorders caused by nonsense mutations. Nonsense mutations usually make up a small percentage of the cause for most genetic disorders.

While PTC is conducting some research studies in-house, it's unlikely TMAU would be added to their in-house list of trials in the forseeable future. It was suggested that our best prospect of getting an ataluren trial for TMAU would be to find a researcher externally, and possibly to lobby the NIH or FDA or other sources of funding.

Ataluren has been trialled in a large study for muscular dystrophy. The original results (mainly based on a '6 minute walk' to look for improvement) were not significant, but other data since seem to have shown improvement. It has been and is now being trialled in a number of disorders. Curiously it seemed to work better at smaller dosages, though this is not an uncommon trend.

More informartion on Ataluren

The PTC Representative was informed of TMAU and is aware of the MEBO Research website. They pointed out that patient advocacy groups can have important pivotal roles in research, and their muscular dystrophy website was popinted out as a good example of a patient advocacy group acting as a hub and collating data. This is generally how MEBO Research sees it's future role as well. The rep was informed of the TMAU Foundation in New York, and was grateful for this information.

PTC is hoping that if all goes well ataluren will be approved by 2011, though of course this is subject to circumstances.

Overall it was a nice informal chat, and TMAU is now on their radar at least.