Extraordinary Measures, Pompe disease and animal research (UPDATED)

Jan 25 2010 Published by under Animals in Research

The Speaking of Research blog has an excellent backstory bit on the new film Extraordinary Measures.

The new Harrison Ford film, Extraordinary Measures, hitting US cinemas from 22 January, is a fictionalised account of the development of a treatment for Pompe disease, a rare genetic disorder. Pompe disease (glycogen storage disease type 2, acid maltase deficiency) is an enzyme deficiency with devastating effects - progressive muscle weakness and, in the severe infantile form, gross enlargement of the heart. Until fairly recently, the infantile form of the disease was invariably fatal within the first year of life. Now, however an effective treatment is in place.


</spanAs the blog post concludes:

If you go and see Extraordinary Measures do bear in mind the starring role that doesn't appear in the cast list - that of the mice and quail that made this treatment possible.

Indeed.
Go Read, there are a bunch of informational links provided in the post.
The guest author finishes with a disclaimer. He has a specific interest in the disorder.

I am a professional scientist, however my involvement with Pompe disease dates from the diagnosis of our first child, Calum, with infantile Pompe disease in 1993. At that time the disease was still untreatable and Calum died at 8 months of age. Following that I had the great privilege of participating in an international community of patients and scientists that championed the development of a treatment for Pompe disease. They don't appear in the cast list of the film either, or the book on which it is based The Cure by Geeta Anand. This prompted me to write the real story down - I think it's a better story than either the book or the film though not, sadly, as well written.

I am delighted you did so. I learned about yet another triumph of science. A triumph which prevents* parents from undergoing the permanent heartache suffered by you and your spouse. Thank you for telling this story.
*in theory. According to the Ebert review:

The film also fails to explain that the cost of the medication is $300,00 a year for life, which limits its impact in the United States because many American insurance companies refuse to pay for it. According to Wikipedia, "The vast majority of developed countries are providing access to therapy for all diagnosed Pompe patients.

The cite for this is behind the WSJ paywall, so I can't check it. But sure, it takes a lot of money to turn scientific success into available medical therapy or cure. These issues are separable. There would be no point bemoaning the cost of the therapy if it did not exist. And who knows? Maybe this film (which no doubt makes the science part look a heck of a lot easier and inevitable than it really is) can launch a few more philanthropic efforts to make the therapy available to a few more children.
--
UPDATE: One of our readers points to this drug pricing calculator and relates the following.

Myozyme is dosed 20mg/kg
So $532/50 mg= $213/kg
If you weigh 65 kg, then $13945 per dose. Doses come every 2 weeks, so 26 times a year
$13945 * 26= $360k. This woman might have weighed only 120 lbs= 55 kilos, so $300k/year

I also got a look at the WSJ article and it is pretty interesting. The Pompe therapy is an example in a discussion focused on the relative greater expense of cutting edge drugs for small disease categories. They make the refined point, however, that insurance companies are in large part denying coverage when a medication is being used for something other than that for which it received FDA approval. In this case, the FDA appeared to have approved Myozyme only for children with Pompe (a quote in the article says "it is a little fuzzy") thus some insurers are not covering the treatment for adults. The article says that Medicaid "agreed on appeal to cover the cost of the drug" in at least one case.

6 responses so far

  • Paul says:

    According to these reports there have been several delays in getting FDA approval for scaled-up production of Myozyme. This might explain, at least in part, the relatively high cost of the drug.
    http://www.in-pharmatechnologist.com/Materials-Formulation/Myozyme-becomes-Lumizyme-after-biologics-scale-up
    http://www.reuters.com/article/idUSTRE60J4Z920100120?type=entertainmentNews
    The problem of the high cost of drugs for rare disorders and the perhaps understandable* reluctance of insurance companies to cover the expense, which many well extend over a patients lifetime of several decades, is just another reason why healthcare reform is so crucial.
    *Since they need to generate profit for shareholders.

  • anne says:

    I have not seem the movie either. I am not the highlighted anne in #1.
    DM, I'd suggest you moderate for names as to preserve identity.

  • DrugMonkey says:

    That was a spammer, anne. I deleted it. But in general I'm not going to fuss about people's handles. If there is confusion people clarify or change their comment name slightly. No hamfisted, jackbooted moderation necessary..

  • qetzal says:

    They make the refined point, however, that insurance companies are in large part denying coverage when a medication is being used for something other than that for which it received FDA approval. In this case, the FDA appeared to have approved Myozyme only for children with Pompe (a quote in the article says "it is a little fuzzy") thus some insurers are not covering the treatment for adults.

    This doesn't quite square with the FDA-approved labeling, IMO. The original label (approved in 2006) says:

    MYOZYME (alglucosidase alfa) is indicated for use in patients with Pompe disease (GAA deficiency). MYOZYME has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of MYOZYME in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy (see CLINICAL STUDIES).

    pdf
    Note that it's approved for use in "patients with Pompe," not just children with Pompe, or even just patients with infantile-onset Pompe. The label clearly notes that clinical studies were only performed in infantile-onset Pompe, but does not restrict the indication. That's almost certainly intentional.
    The same language is still in the label, even though it was revised in 2008. Again, if FDA wanted the indication restricted to children, it would have made the company revise this language.
    The reasonable conclusion (IMO) is that FDA approved Myozyme for all patients with Pompe, even though the clincial studies were only adequate for infantile-onset disease.

  • DrugMonkey says:

    Hence the "it is a little fuzzy" quote in the article which I repeated. Perhaps the reason why Medicare caved "on appeal".
    Is it news that insurance companies' approach is to deny coverage if there is the slightest possibility they can get away with it? Have you ever seen "The Incredibles"? I take that for gospel truth about the insurance business 🙂

  • qetzal says:

    Not news that insurance co.s would balk at paying for this, nor that they would latch on to any defense they thought might fly.
    I just thought the real approval status, at least as suggested by the labeling, made things more interesting than what WSJ apparently said. (And, arguably, less defensible for the insurance co.s).

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