Dr J C Pompe

Dr J C Pompe
Discoverer of Pompe disease

About this blog

What you can read here is the story of the development of enzyme replacement therapy (ERT), the first effective treatment for Pompe disease. It is an incredible story, rich with events, characters and science. Above all, it is the story of an international community of scientists, doctors, patients and companies, working together towards a common goal.

It is not a story that features in Geeta Anand's book, The Cure , or the film based on it, Extraordinary Measures despite the fact that they are ostensibly about the development of ERT for Pompe ( you can link straight to the relevant articles covering the events described in the book and film here, here and here).

This blog represents my small attempt to set the record straight and to give the story back to its rightful owners - the international Pompe community. It is written here in roughly chronological order i.e. you'll need to start at the bottom of the April 2009 archive page and work your way up.

It is also a personal account and, although I've tried to make it as objective as possible, there is an inevitable degree of subjectivity. For that reason I have included contributions from other members of the worldwide Pompe community and would be delighted to receive more. Feedback is also welcome.

Search This Blog

Friday 27 July 2012

Duke author admits discrepancy

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:

While Drs Y.-T. Chen, P.S. Kishnani and A. Amalfitano are authors
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.
This 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:

The details of the ERT dosing and immunomodulatory regimens
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].
So it is accepted that the 2001 data were incorrect and that the 2012 data are correct. They go on to say:

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.

No comments:

Post a Comment