Talk:Glycogen storage disease type II

Some text in this article was originally taken from http://www.ninds.nih.gov/disorders/pompe/pompe.htm (public domain)

note
Can we add carrier frequency? Preferably in the first paragraph. neffk 19:10, 10 January 2007 (UTC)

Source for results of LOTS?
Is there a source for these results? Peer-reviewed, preferabbly...--134.102.20.212 (talk) 08:24, 5 October 2009 (UTC)

Prognosis section
This section contains only one source, but reads as if two studies were done. The first (Wagner, 2007) is summarised in the second paragraph. The second, which is not obviously linked to the first (though they may be the same study), is then discussed in paragraphs 3, 4 and 5, but without any citation. I suspect the latter is the same as the former, but can't tell. If they are, the text needs simplifying so that repetition is avoided. If they are not (as suspected by the anon above), the second study needs proper citation.

On a related point, the unsourced 2007 study is described as reporting "initial results". Given that it was publishing in 2007, presumably some time after the results were originally collected, are there "later results" that could now be added in? I ask in small part because there's apparently a (Harrison Ford) film coming out this week in which "curing" the disease is the focus. Cheers, --P LUMBAGO 09:57, 20 January 2010 (UTC)

S/S for late onset Pompe
Should Hair Loss be added for the signs and symptoms? --Ely23 (talk) 09:56, 10 April 2011 (UTC)

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External links modified
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citations needed in treatment section
I think this article would benefit from inclusion of more precise information on the efficacy of Myozyme, and clear citations of the underlying data. The reference 9 - authored by Wagner is NOT a study, it is merely an editorial discussing a trial. This is a poor citation. The underlying trials would be better references.

The FDA approval of Myozyme in April 2006 is at: https://www.accessdata.fda.gov/drugsatfda_docs/nda/2006/125141s000_MyozymeTOC.cfm In the FDA approval, under 'printed labelling', the efficacy was supported by discussion of 2 pivotal trials. The first trial discussed is one including 18 patients, and appears to be this study with first author Kishnani: https://n.neurology.org/content/68/2/99/ (It appears this study was completed prior to FDA approval and results known and used in the FDA approval, but not publicly published until after FDA approval) This is not a placebo controlled randomized trial, but rather against matched historical controls.

The second study referenced in the FDA printed labelling was described as an ongoing multicenter trial that enrolled 21 patients. I believe the study the FDA described was eventually publicly published as this study, with the described characteristics (for example: 16 free of invasive ventilation at baseline): https://www.nature.com/articles/gim200930

I think these 3 primary source materials would be important to include in this article, and would probably suffice for the 'citation needed' in the third paragraph of the section 'Treatment'

FDA approval Myozyme 2006 https://www.accessdata.fda.gov/drugsatfda_docs/nda/2006/125141s000_MyozymeTOC.cfm Kishnani 2007 https://n.neurology.org/content/68/2/99/ Nicolino 2009 https://www.nature.com/articles/gim200930

Parenthetically, I have qualms about the terminology "Myozyme treatment clearly prolongs ventilator-free survival and overall survival", since in precise medical terminology the word 'clearly' connotes a statistically inference generally based on placebo controlled trials. The two studies referenced were NOT placebo controlled, but against matched historical comparators. — Preceding unsigned comment added by 70.20.25.26 (talk) 14:49, 30 April 2020 (UTC)

broken citation link
The citation [1] to medlineplus.gov should lead to https://medlineplus.gov/genetics/condition/pompe-disease/ but instead leads to https://medlineplus.gov/genetics/condition=pompedisease/ where it shows an error page 108.30.153.109 (talk) 01:20, 30 October 2023 (UTC)