Ten years of enzyme replacement therapy in paediatric onset Mucopolysaccharidosis II in England

Enzyme replacement therapy (ERT) for MPS II was licensed in the UK in 2007. Broomfield et al have just published a ten year follow up. This is the first significant review since the Hunter Outcome Survey (HOS) Registry data review in 2017, and adds some important findings:-

1. Cessation of ERT did not trigger a rapid decline (as was reported in the HOS study).

2. Certain features such as cardiac manifestations showed minimal response to ERT.

3. Perhaps most importantly, the neurological features showed a far wider spectrum than previously described. The previously accepted division into “severe” and “attenuated” groups seems to be no longer tenable.

Clearly this last point needs further investigation. The neurological features in MPS II need careful description and delineation, so that clinicians and families are better informed about outcome, and future trials of new treatments can be better designed.

Here is the full paper.

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England

Author: Ashok Vellodi

I have had a lifelong interest in lysosomal storage disorders. Having recently retired I now have time to pursue my passion for teaching and training of young doctors and scientists, and hopefully instil in them the passion for their patients that is so integral to working in this field.

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