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  1. Pompe disease was featured in a motion picture titled "extraordinary measures" starring Harrison Ford and Brendan Fraser/ here is the link to the trailer:

    1. Cool! I just added Extraordinary measures to my netflix queue :-)

  2. This is one of the most cited articles on Pompe where they report the treatment of patients using  alpha-glucosidase derived from milk. Van den Hout et al Pediatrics.pdf

    1. That's a really cool paper about treatment using enzymes made in milk! The results look extremely promising. Thanks for posting it.

    2. That is really interesting, and possibly a partial solution to the high cost of treatment. I wonder if Genzyme is going any research into this area as a way to supplement their enzyme pool for treatment options. Has the FDA ever approved proteins or other molecules derived from animal milk for human treatment?

  3. This fairly recent article discusses the promising bimonthly enzyme treatments for Pompe patients.

    1. A very extensive write-up of the creation of mice knock-out models of Pompe that also discusses other mammals that similar glycogen storage diseases occur:

      Kamphoven: Pomp's Disease: the mouse as model in the development of enzyme therapy

  4. Here's a paper specifically on the effectiveness of pre-natal screening for Pompe's. Might need to access through Hollis!

  5. Yung Chyung, the associate global medical director for Pompe disease at Genzyme, along with Aliso Mcvie-Wylie, the director of pharmacology and toxicology, from Genzyme corporation have confirmed their participation in our symposium addressing Pompe. They also helped us to invite the family of a kid with Pompe, her name is Mia, who will be with us at the symposium. see a link to a website on Pompe supported by Genzyme:

    1. I've been trying to find more updated information about the current status of Genzyme's Myozyme/Lumizyme production--The last thing I can find is the FDA denial of their application to produce the ERT on a larger scale due to carbohydrate changes. Do they still have to produce part of the therapy abroad and then ship it back in to Boston? Also, has the company issued any statements/has any work been done as to whether this restriction contributes significantly to the cost of treatment?

  6. Here is a thorough, in-depth article that gives a lot of information!  And, it probably has great citations in it.

    Fukuda T; Roberts A; Plotz PH; Raben N; Current Neurology And Neuroscience Reports, 2007, vol. 7, issue 1, p 71, ISSN 15284042. ISBN 15284042.

    I posted the citation so that you could use the Harvard e-Resource Citation Linker.  I didn't want to risk using a link that might not work without going through Harvard's sites first.


    Below is a link to the International Pompe Organization. This particular page includes citations to papers investigating the epidemology of the disease in different ethnic groups. This information is most relevant to the previous question set. If folk have specific studies which discuss the epidemiology of the disease I'd love to see it!

  8. Clinical trial of the drug Myozyme:

    Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS.  2009.  Clinical outcomes after long-term treatment with alglusidase alfa in infants and children with advanced Pompe disease.  Genet Med 11(3): 210-9.

    1. Great that we got Genzyme to attend the symposium!! you can ask more questions to the company's representatives

    2. The high cost of treatment is problematic even in countries with nationalized healthcare systems:

      Scottish families are appealing a decision by the NHS to cover ERT. Its an interesting conundrum since there have only been 11 people in Scotland identified with the disease, so the potential outlay is restricted; however then the NHS has to decide whether it is worth spending millions on 11 people. 

  9. Pompe Disease was recently featured in the New York Times: 

    A girl with unexplained hairloss turned to the Times for help and the diagnosis was eventually Pompe - the diagnosis followed like a detective story.

  10. Here is an interesting article that treat with the phenotypic manifestations of different mutations in GAA. The authors have gone through a lot of them and created some really helpful tables and charts that not only list the placement of every mutation that has been correlated to Pompe, but also discussed the phenotypic impacts of different combinations of the mutations--especially in causing infantile versus adult-onset.

    You can also access it by searching the title "Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes" in the web of science database on Hollis. 

  11. If you're working on question 7, this website might help a lot. It's the Pompe Center at the University of Rotterdam for the Erasmus project, which seems similar to other gene-sequencing, protein-studying projects that we've been accessing. The most helpful links are to 'DNA' under GAA on the left, where you can find a table of all the intron/exon placements in GAA, arranged by their location in the mRNA, the cDNA, and the amino acid sequence of the protein that is coded at that point. This allows for really helpful comparison with the location of mutations (next tab, 'mutations') to find where they occur relative to the conserved or active regions.