MPS II Update

There have been a number of interesting publications over the last year on MPS II.

Whiteman and Kimura (Shire Inc.) have written a comprehensive overview of the development of idursulfase therapy. Here is the full article

Development of idursulfase therapy for MPS II 2017

Muenzer et al reported the results of follow up of patients receiving ERT. Data from the Hunter Outcome Survey (HOS) was used for this purpose. A total of 639 patients (excluding females, those patients who had received HSCT, and patientsĀ enrolled in the phase 1/2 [TKT018] or phase 2/3 [TKT024] clinical trials) who had been followed up for at least 6 months on ERT were reported. Continuing improvements were observed in various visceral parameters. However, results of cognitive function were not reported. The authors acknowledge some shortcomings of this study. For example, collection of urine for GAG analysis is more difficult in patients with severe neurological involvement.

Here is the full paper

Clinical outcomes in idursulfase-treated patients with MPS II. 3- year data from Hunter Outcome Survey (HOS)

Burton et al report survival in MPS II patients. Again, their data is drawn from HOS. Two key findings are

  1. A 54% increase in survival in treated vs untreated patients
  2. A five fold higher risk of death in patients with cognitive impairment.

Here is the full paper

Survival in idursulfase treated and untreated patients with mucopolysaccharidosis type II data from the Hunter Outcome Survey (HOS)

These findings are not surprising, but they emphasise the need for early diagnosis of, and more effective treatments for, the brain involvement in MPS II.

Escolar et al reported a scoring system for early diagnosis of CNS disease. They found that seven early clinical markers and a severity score index of CNS involvement can be used for initial screening of children who might benefit from CNS-directed therapies. This paper has not received the attention that it should have; the severity score described should be more widely used.

Here is the full paper

Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II

As far as treatment of brain involvement in MPS is concerned, Scarpa et al have written this timely review of recent developments in the field.

Here is their full paper

Treatment of brain disease in the mucopolysaccharidoses 2017

 

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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