Hope For Muscular Dystrophy Patients?

February 26, 2010 - 1:53 pmShare

http://blogs.forbes.com/sciencebiz/2010/02/hope-for-muscular-dystro...

Matthew Herper is a senior editor at Forbes

Clinical trial results are due out soon that could give hope to some patients with Duchenne muscular dystrophy, a rare genetic disorder that robs boys of muscle strength, confining them to wheelchairs by adolescence. Even the survivors wind up on ventilators and die in their 40s.

The hope comes from a new drug called ataluren, which could help 13% of the 13,000 boys with Duchenne. The drug, made by PTC Therapeutics, a privately held biotechnology company in Plainfield, N.J.. The drug targets a particular type of genetic mishap, called a nonsense mutation, in which a single misspelling causes the body to stop reading the 2.2-million base pair gene for a muscle-making protein called dystrophin. Lack of this protein is what causes Duchenne.

Ataluren forces the body to keep reading the gene, despite the misspelling. The 174-patient trial that is expected soon tests whether high- or low- dose ataluren improves the distance patients can walk in six minutes, compared to placebo. (see:Stopping The Nonsense) Mark Schoenebaum, the biotechnology analyst at Deutsche Bank, wrote in a note to investors on Feb. 22 that the last patient in the study has now been treated for 48 weeks, and that final results could come within two weeks. A PTC spokeswoman confirmed that the trial results could be out soon.

Schoenebaum says that the results could be good news for PTC's partner, Genzyme, which plans to sell ataluren outside the U.S.. He estimates that there are 1,200 patients that could receive the drug. Assuming that half of them wind up taking it and that it costs $150,000 annually, this would mean $100 million in total sales. That would increase Genzyme's 2014 earnings per share by 4%, Schoenebaum writes. If ataluren works in cystic fibrosis, where it is also being tested, that could mean another $400 million in sales for Genzyme, boosting earnings per share by 20%. CF results for the drug aren't expect until next year.

Ataluren is interesting not just because it could help patients with rare diseases for which drugs are hard to come by, but also because it represents a new way of thinking about illness. It is a drug that targets a particular kind of genetic flaw that can cause all manner of rare ailments. If it succeeds, it could be the first of a new kind of medicine that is targeted against genes, not the symptoms they cause.

Muscular dystrophy has turned out to be an incredibly hard disease to treat. Wyeth, now part of Pfizer, quietly released news in 2008 that it was giving up on an antibody that blocked myostatin, a gene that causes some animals to bulk out. Amgen and Acceleron, a privately held firm, are still working on myostatin blockers. Cytokinetics, of South San Francisco, has a muscle-strengthening drug in preclinical development.

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sharon Wilmot said:
Thankyou Cori, i feel all deflated now. Great news for all the other boys that it will help though.
Is this truth?
Ataluren at $280/pill

http://unitedbiochem.com/

regards

luis

Luis Cordero said:
sharon Wilmot said:
Thankyou Cori, i feel all deflated now. Great news for all the other boys that it will help though.
It is my understanding that once a drug is FDA approved, it typically is covered by medicare and then private insurers follow suit. IF NOT, I really don't know why they would bother to develop these drugs because I am guessing 99.9% of us would not be able to afford a $150,000 per year price tag.

My son is in this study and I am so hopeful that this drug has proven to slow and or stop the progression. I know it will not cure the disease, but it is my understanding that he would not get any worse. I will be on pins and needles until the results are released.
I will be prayer for you! I am glad they finally found something to help some of the boys...and I am holding to the hope and faith that something is coming for my son and all the other little boys here soon!

Donna said:
It is my understanding that once a drug is FDA approved, it typically is covered by medicare and then private insurers follow suit. IF NOT, I really don't know why they would bother to develop these drugs because I am guessing 99.9% of us would not be able to afford a $150,000 per year price tag.

My son is in this study and I am so hopeful that this drug has proven to slow and or stop the progression. I know it will not cure the disease, but it is my understanding that he would not get any worse. I will be on pins and needles until the results are released.
Hi Sharon

The treatment that has the most promise for your grandson is exon skipping. When I look at the chart, it looks like skipping exon 45 or 56 would put his gene into a reading frame to create a smaller dystrophen gene. I believe skipping exon 45 is in the top 5 chemicals to be developed.
Best wishes.

sharon Wilmot said:
I am totally confused but excited also. Would this help my grandson?, he has deletions 46-55.

Tracey Hartz said:
We are definitely anxiously awaiting the results of the trial and of course the FDA approval. I had no idea it would cost that much, though. I don't see how it could be morally justifiable in any way. I mean...that's $410 a day! Our neurologist said that the drug is for sale somehow already at $280 a pill. Of course not covered by insurance since it's not FDA approved yet. I did find it online at that price, too.
Thankyou Karen for taking the time to check it for me and reply.

Karen said:
Hi Sharon

The treatment that has the most promise for your grandson is exon skipping. When I look at the chart, it looks like skipping exon 45 or 56 would put his gene into a reading frame to create a smaller dystrophen gene. I believe skipping exon 45 is in the top 5 chemicals to be developed.
Best wishes.

sharon Wilmot said:
I am totally confused but excited also. Would this help my grandson?, he has deletions 46-55.

Tracey Hartz said:
We are definitely anxiously awaiting the results of the trial and of course the FDA approval. I had no idea it would cost that much, though. I don't see how it could be morally justifiable in any way. I mean...that's $410 a day! Our neurologist said that the drug is for sale somehow already at $280 a pill. Of course not covered by insurance since it's not FDA approved yet. I did find it online at that price, too.
Received a call this morning from our clinical trial site and an email just recently from Pat Furlong that the PTC124/ataluren study is done. It did not work. Very crushing - very heartbreaking.
I just read the press release. Why would results from the 6MWT be the primary metric used to determine its efficacy? Wouldn't dystrophin expression make more sense?

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