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.
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.