New Treatment Developments for Pompe Disease

New Treatment Developments for Pompe Disease

A Letter from Allan Muir, Chair, Pompe Support Network

Posted On: 30/09/2020

I’ve been wanting to write this article for some time but was slightly daunted by the number of potential treatments currently under study; some paused due to Covid-19, and a few reopening their clinical trial sites. So, it was a wonderful surprise to receive notification of a paper published recently on this very subject. The paper’s lead author is the highly respected Nina Raben who has worked for many years to understand the underlying biochemistry of Pompe disease and it was her work that led to the Pompe mice models that were used to prove the principal of Enzyme Replacement Therapy for Pompe back in the mid to late 1990s.

The paper (link below) provides an excellent research summary for potential treatments and gives an update on those in clinical trials. The paper does contain significant scientific detail, but within the text are some great nuggets of information. Here I’ve listed a few highlights that caught my attention:

  • The lysosome is no longer regarded as a recycling centre for cellular waste products, is becoming understood as a major regulator of metabolic processes. (Page 5)
  • Despite significant progress in the understanding of the science behind Pompe disease, there is still a lot to learn (Page 6)
  • The ability for muscle cells to regenerate is being researched – stem cells are still available to grow into new muscle cells, but for some reason, they are not activated in Pompe disease. Good progress is being made, however, and may lead to future therapeutics to help muscles regenerate (Page 7)
  • Next generation ERTs are showing promise, ranging from slight improvements to pulmonary function and muscle strength, through to drugs that can completely reverse accumulation of glycogen in the lysosomes of mice. We await the results of phase 3 clinical trials to confirm their superiority to Myozyme. (Page 9)
  • A combination of ERT with Clenbuterol or Albuterol (Salbutamol or Ventolin in UK) has shown some improvement for patients who had stabilised on Myozyme (alglucosidase alpha). (Page 9)
  • Gene therapy has the potential to become a lifelong cure for Pompe disease (Page 11)

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

by Naresh K. Meena and Nina Raben*

Biomolecules 2020, 10(9), 1339;

Published: 18 September 2020

*Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, NIH, Bethesda 20892, MD, USA