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Translarna

Hi everybody!

PTC announces launch of Translarna in Germany. How can Duchenne boys from other countries approach? Can ppmd help?

Tks/Trinh
http://ir.ptcbio.com/releasedetail.cfm?ReleaseID=885899

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Permalink Reply by Kenny Chu on December 4, 2014 at 3:14am

how much does it cost?

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Permalink Reply by Phil on December 4, 2014 at 8:32am

Could someone please point out to me a quick explanation between a nonsense mutation and other ways dmd manifests itself. My son Max has exon 43 missing, which is not a nonsense mutation & this drug won't benefit him, am I correct? Thanks

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Permalink Reply by Trinh Nguyen on December 5, 2014 at 3:56am

Hi Phil,

My son got point mutation called nonsense mutation. I understand exon deletion or duplication is not the case and cannot take Translarna.

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Permalink Reply by Brian Denger on December 7, 2014 at 8:07pm

Phil,

A nonsense mutation is a gene change in which a codon (coding region of the gene) becomes a premature stop and doesn't produce an expected protein. Translarna is a drug developed to "read through" or allow the gene to ignore the premature stop to produce the missing dystrophin protein or a somewhat shorter version of it. It is not a cure.

A deletion mutation as you mentioned causes your son's DMD won't be helped by Translarna. There are efforts underway by two biotechs to produce drugs that patches over (Skips over) certain exons that disrupt the gene's ability to produce dystrophin with the goal of producing a shortened version of the protein. This is called 'exon skipping' as the drug causes the RNA to skip over a specific portions exons putting the sequence back "in frame". There are many different deletion mutations and each would need a specific drug to correct the mutation. Where the mutation(s) occurs and other aspects of the mutation including length can impact expected efficacy of the drugs planned to help with the correction.

To learn more, visit the following link offered by Sarepta Therapeutics: http://www.skipahead.com/exon-skipping.php

I hope this is useful.

Brian

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Permalink Reply by Phil on December 8, 2014 at 12:03pm

Thanks Brian,

I've read extensively about 'exon skipping' because it relates more to my son, and never really looked into nonsense mutation that much. That was a great explanation, much appreciated.

Cheers, Phil