Pompe News

Many people receive the plethora of global news items through Google Alerts, Facebook and other Pompe websites, for example "Pompe Disease News". Posts here will be restricted to significant developments within the Pompe community, such as reports from patient meetings.

As we are a community website, please send your news to us and we'll check to see if it's suitable to post.


eNewsletter of the Pompe Support Network

The PompePost newsletter is designed for reading online as it often makes use of hyperlinks, rather than unnecessarily reproducing content. Please contact us if you prefer to receive a printed copy (sorry, UK only).

2019 eNewsletters

Click on the highlighted link to download a newsletter

December 2019 PompePost - Contents: Charity Commission recognition - Saved by the Pompe Model - Advent of the Pompe Model - Business news - Clinical trials - Neonatal screening for Pompe disease - Fundraising


Next Generation Sequencing using Dried Bloodspot

Newborn Screening in the United Kingdom National Health Service

This paper presents a very promising technology for the future, but will it help or hinder getting Pompe and other LSDs onto the panel of conditions screened in the UK?

AMDA/IPA Patient and Scientific Conference 2019

And other meetings

Tiffany House and her Conference organisers did a splendid job of preparing a full programme and ensuring that the 200 participants from 15 countries enjoyed an interesting and varied social programme. A full report will be produced by AMDA in the next couple of months, but in the meantime I have prepared a brief outline of the conference and other meetings that were organised around the main event. Notably, the IPA Community advisory board, pictured above.

Please download my visit report here.

Mark A. Tarnopolsky presents at AMDA/IPA Conference

McMaster University, Hamilton, Ontario, Canada.

Mark Tarnopolsky will be following his excellent and comprehensive paper on Nutrition and exercise in Pompe disease with a presentation on the topic at the San Antonio Pompe conference. Hopefully he'll have updates on many of his observations, including those on the benefits of a ketogenic diet.

"A ketogenic diet is usually >60% fat with very low carbohydrate (<50 g/d). The possible theories suggested for improving PD are that ketones (B-OH-butyrate and acetoacetate) can enhance muscle mass in MD, lower inflammation, activate chaperone-mediated autophagy, and that a very low carbohydrate intake is a form of substrate reduction therapy (SRT). The potential benefit of SRT was shown in the murine Pompe model with genetic knock-down of glycogen synthase leading to improved function. Practical issues with the ketogenic diet are issues of long-term compliance and care to ensure adequate micronutrient intake. Another concern is the potential to increase neutral lipids in the liver and lead to non-alcoholic fatty liver disease (NAFLD) and hepatic insulin resistance. Clearly, with the anecdotal evidence of “benefit” it is important that this concept be first evaluated in the murine model and if successful, in a randomized human clinical trial."

We'll report back after the conference.

2019 AMDA/IPA International Conference

The AMDA/IPA International Pompe Patient and Scientific Conference takes place in San Antonio, Texas from October 25-27, 2019. There will be three of the Pompe Support Network leadership team in attendance: Kevin O'Donnell is an invited speaker, Allan Muir will be joining as IPA vice-chair, and Wayne Belfitt will be joining as a member of the IPA Community Advisory Board. The EURORDIS-inspired CAB was created by the IPA to advise industry and other professional groups; giving first-hand patient experience. The CAB meets for the first time on the days following the AMDA conference and will include three members from the UK.

We're all greatly looking forward to meeting up and meeting with the many other members of the International Pompe community.