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.

Views: 708

Reply to This

Replies to This Discussion

Note the price tag: $150,000/year. And exon skipping is supposed to be even more expensive... God knows how much the "cocktail" of drugs (whenever available) will cost and how many patients will be able to aford it.
I hope someone can enlighten me as to who would consider that a "morally justifiable" price point.
I assume insurance will pay "most"/all, since there is no other disease modifying drug approved for DMD(?). Question is, what happens when there is more than one drug approved and total price starts to get to hundreds and hundreds of thousands/year...
Okay I am confused... I thought my son Trey was a canidate for this drug since he needs the exon 51 skip...so I thought that he was one of the 13% that this drug could possibly help...

BUT I just talked to Debra Miller at CureDuchenne (and I could tell she was extremely busy) but she said that the Ataluren was for Stop Codons, not deletions...????

Were we accidently talking about 2 different things at one time, or am I thinking correctly that this drug could help Trey who has a deletion of exon 52?

So confused...Cori
Yes, two different possible treatments for subsets of patients:

Ataluren is a drug for stop codons (~13% of DMD patients). Trials are going on in the US as well as other countries around the World.

Exon skipping is what Trey needs. Skipping exon 51 might become therapeutic for ~13% DMD patients. This, if approved, will be IV or subcutaneous injection (not pill). The exon skipping trials do not have FDA approval to start in the US at the moment.

Those % are approximate.


Cori said:
Okay I am confused... I thought my son Trey was a canidate for this drug since he needs the exon 51 skip...so I thought that he was one of the 13% that this drug could possibly help...

BUT I just talked to Debra Miller at CureDuchenne (and I could tell she was extremely busy) but she said that the Ataluren was for Stop Codons, not deletions...????

Were we accidently talking about 2 different things at one time, or am I thinking correctly that this drug could help Trey who has a deletion of exon 52?

So confused...Cori
Ofelia,

Okay our genious =), so Trey is NOT a canidate for the Ataluren with having a 52 deletion? So approx 13% of the boys have stop codons and 13% of the boys need exon 51 skipped? Those are 2 completely different things, am I understanding that correctly? The stop codons have a 'wrong letter' need Ataluren, whereas the boys that need exon skipping (need prosensa/AVI) are missing a letter? Sorry I guess I have been following the researching thinking that Trey was a canidate for this drug (forget the flipping price tag, that is ridiculous! grrr) and I guess I possibly have been SO wrong. sigh.

Ofelia Marin said:
Yes, two different possible treatments for subsets of patients:

Ataluren is a drug for stop codons (~13% of DMD patients). Trials are going on in the US as well as other countries around the World.

Exon skipping is what Trey needs. Skipping exon 51 might become therapeutic for ~13% DMD patients. This, if approved, will be IV or subcutaneous injection (not pill). The exon skipping trials do not have FDA approval to start in the US at the moment.

Those % are approximate.


Cori said:
Okay I am confused... I thought my son Trey was a canidate for this drug since he needs the exon 51 skip...so I thought that he was one of the 13% that this drug could possibly help...

BUT I just talked to Debra Miller at CureDuchenne (and I could tell she was extremely busy) but she said that the Ataluren was for Stop Codons, not deletions...????

Were we accidently talking about 2 different things at one time, or am I thinking correctly that this drug could help Trey who has a deletion of exon 52?

So confused...Cori
You got it. Our sons have a deletion of one exon or more and are NOT candidates for Ataluren. Some boys with stop codon can benefit from exon skipping though, so the subsets are not completely distinct. Exon skipping 51 is what might work for Trey and Robert -- trials are only in Europe at the moment.


Cori said:
Ofelia,

Okay our genious =), so Trey is NOT a canidate for the Ataluren with having a 52 deletion? So approx 13% of the boys have stop codons and 13% of the boys need exon 51 skipped? Those are 2 completely different things, am I understanding that correctly? The stop codons have a 'wrong letter' need Ataluren, whereas the boys that need exon skipping (need prosensa/AVI) are missing a letter? Sorry I guess I have been following the researching thinking that Trey was a canidate for this drug (forget the flipping price tag, that is ridiculous! grrr) and I guess I possibly have been SO wrong. sigh.

Ofelia Marin said:
Yes, two different possible treatments for subsets of patients:

Ataluren is a drug for stop codons (~13% of DMD patients). Trials are going on in the US as well as other countries around the World.

Exon skipping is what Trey needs. Skipping exon 51 might become therapeutic for ~13% DMD patients. This, if approved, will be IV or subcutaneous injection (not pill). The exon skipping trials do not have FDA approval to start in the US at the moment.

Those % are approximate.


Cori said:
Okay I am confused... I thought my son Trey was a canidate for this drug since he needs the exon 51 skip...so I thought that he was one of the 13% that this drug could possibly help...

BUT I just talked to Debra Miller at CureDuchenne (and I could tell she was extremely busy) but she said that the Ataluren was for Stop Codons, not deletions...????

Were we accidently talking about 2 different things at one time, or am I thinking correctly that this drug could help Trey who has a deletion of exon 52?

So confused...Cori
Thank you so much! Don't you just hate it when you think that something is on the horizon for our sons and due to of course myself not reading something correctly, somewhere, I was SO wrong...I guess they are getting ready to start both the AVI and Prosensa treatments here very soon...AVI is getting ready to start a clinical study here in the US (important info from someone very special *wink) and I am going to try and get Trey enrolled...guess it is good news when they start moving from UK/Europe over here.

Ofelia Marin said:
You got it. Our sons have a deletion of one exon or more and are NOT candidates for Ataluren. Some boys with stop codon can benefit from exon skipping though, so the subsets are not completely distinct. Exon skipping 51 is what might work for Trey and Robert -- trials are only in Europe at the moment.


Cori said:
Ofelia,

Okay our genious =), so Trey is NOT a canidate for the Ataluren with having a 52 deletion? So approx 13% of the boys have stop codons and 13% of the boys need exon 51 skipped? Those are 2 completely different things, am I understanding that correctly? The stop codons have a 'wrong letter' need Ataluren, whereas the boys that need exon skipping (need prosensa/AVI) are missing a letter? Sorry I guess I have been following the researching thinking that Trey was a canidate for this drug (forget the flipping price tag, that is ridiculous! grrr) and I guess I possibly have been SO wrong. sigh.

Ofelia Marin said:
Yes, two different possible treatments for subsets of patients:

Ataluren is a drug for stop codons (~13% of DMD patients). Trials are going on in the US as well as other countries around the World.

Exon skipping is what Trey needs. Skipping exon 51 might become therapeutic for ~13% DMD patients. This, if approved, will be IV or subcutaneous injection (not pill). The exon skipping trials do not have FDA approval to start in the US at the moment.

Those % are approximate.


Cori said:
Okay I am confused... I thought my son Trey was a canidate for this drug since he needs the exon 51 skip...so I thought that he was one of the 13% that this drug could possibly help...

BUT I just talked to Debra Miller at CureDuchenne (and I could tell she was extremely busy) but she said that the Ataluren was for Stop Codons, not deletions...????

Were we accidently talking about 2 different things at one time, or am I thinking correctly that this drug could help Trey who has a deletion of exon 52?

So confused...Cori
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.
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.
Sharon ~

Now that I have this all figured out...unfortunately no it will not help your son.

Your son as well as mine, and many others on this site have a deletion. This drug will not help deletions.

It does help those that have substitution of letter...aka a stop codon only.

I know I hated this news when I finally understood it too...Cori

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 Cori, i feel all deflated now. Great news for all the other boys that it will help though.

Reply to Discussion

RSS

Need help using this community site? Visit Ning's Help Page.

Members

Events

© 2019   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service