A bit of an update.
Firstly, a letter from Dr Arnold Reuser pointing out the discrepancy in the data has been published in Molecular Genetics and Metabolism, as a 'Letter to the Editor':
Enzyme therapy in Pompe disease: questions remain
This was published online (link above) but unfortunately is behind their paywall, if you don't have a ScienceDirect subscription. The key sentence is:
Firstly, a letter from Dr Arnold Reuser pointing out the discrepancy in the data has been published in Molecular Genetics and Metabolism, as a 'Letter to the Editor':
Enzyme therapy in Pompe disease: questions remain
This was published online (link above) but unfortunately is behind their paywall, if you don't have a ScienceDirect subscription. The key sentence is:
While Drs Y.-T. Chen, P.S. Kishnani and A. Amalfitano are authorsThis has been followed by a response from Dr Kishnani at the other authors of the 2012 paper. Again, it is a Letter to the Editor of Molecular Genetics and Metabolism. And again it is behind a paywall - sorry. However, the key part is:
on both publications, the information contained in Banugaria et al.,
Mol. Genet. Metab. 2012;105:677–680 and Amalfitano et al., Genet.
Med. 2001;3:132–138 is mutually inconsistent.
The details of the ERT dosing and immunomodulatory regimensSo it is accepted that the 2001 data were incorrect and that the 2012 data are correct. They go on to say:
used in the management of this patient are accurate as described in
our recent article in Molecular Genetics and Metabolism [2]. The details
of the increased rhGAA dosing and immunomodulation were
not included in the 2001 Genetics in Medicine paper for reasons outlined
in a recently accepted letter to the editor submitted in Genetics
in Medicine by Drs. Amalfitano, Kishnani and Chen [3].
We regret any confusion this may have caused.So, we await the publication of the letter in genetics in Medicine which will explain why the data was withheld in 2001. I'm struggling to see what could be in this letter than will somehow make things OK. For the record though, I would be absolutely delighted to be surprised.
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