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.
COVID-19 Webinar Recording and Presentation Slides
A recording of the Webinar is now available from the Facebook page of the LSD Collaborative.
Pompe Support Network is a proud and active member of the LSD Collaborative: The slides used in the presentation can be downloaded and shared separately. Please do encourage others within the community to view the presentation.
COVID-19 Webinar - Link now available
March 23 2020
Please join the webinar below at 11am to answer questions about the UK specialist services for Pompe.
You can join on phone, tablet, computer etc...
When: Mar 23, 2020 11:00 AM London
Topic: Coronavirus (COVID-19)
Link to join the webinar: https://zoom.us/j/653429179
There is no registration required, you simply click on the link and give your name and email address to enter the webinar.
COVID-19 Updates from industry partners
19th March 2020
Sanofi-Genzyme have issued the statement below to allay any fears you may have about the supply of Myozyme within the British Isles:
We have been asked to share the letter from Amicus Therapeutics with the Pompe community as they have study sites currently treating patients in the UK and at other global locations. Please read their letter to the patient community here:
Amicus Letter to Patient Community
Spark are currently opening sites globally for their gene therapy trials. COVID-19 has caused a delay in the process as you can read in their statement:
As I’m sure you are aware, the World Health Organization (WHO) has declared a pandemic in response to the COVID-19 (SARS-CoV-2) outbreak. Given this serious health situation, the US Centers for Disease Control and Prevention (CDC) guidelines consider individuals with certain serious chronic medical conditions an especially at-risk population for more severe cases of COVID-19 (SARS-CoV-2).
After consultation with global investigators, advocacy leadership, and healthcare experts, and in an abundance of caution for the health and safety of people with Pompe disease, Spark Therapeutics has decided to voluntarily suspend enrollment into SPK-GAA-100 (seroprevalence study) and RESOLUTE (SPK-GAA-101, the Phase I/II gene transfer study) at this time. This voluntary suspension is solely related to the COVID-19 (SARS-CoV-2) pandemic and by suspending enrollment we aim to minimize risk of exposure to COVID-19 (SARS-CoV-2) for participants who would have been traveling to and from investigational sites.
Please note that the recommendation to suspend enrollment in RESOLUTE (SPK-3006-101) is only currently applicable to investigative sites in the US, as EU sites are not yet open to enrolling. Pre-screening activities that can be handled via email or phone may continue, and remote work to ensure that sites in both the US and Europe are positioned to enroll as soon as possible is continuing. As the situation with COVID-19 (SARS-CoV-2) evolves, we will be in close communication regarding this voluntary suspension, especially when we have plans to resume enrollment.
As a leader in the field of gene therapy, we have always placed patient safety first and foremost in our research. During this unprecedented time, we feel this is the responsible way to safeguard the well-being of individuals with Pompe disease and their caregivers who were planning to join our Pompe clinical research programs. Spark Therapeutics remains committed to investigating a potential gene therapy for Pompe disease and restarting the SPK-GAA-100 study and RESOLUTE (SPK-GAA-101) as soon as safely possible for participants.
It is increasingly likely that any family living with someone with Pompe disease will be asked to self-isolate. The webinar above will be an opportunity to hear answers to any questions you have concerning:
- Treatment (ERT)
- Drug trials
- Homecare service
- Hospital visits
- Or anything else that concerns you during this difficult period.
Questions should be sent in advance of the meeting to arrive before noon tomorrow (Wednesday 18 March); they should be sent by email to: email@example.com.
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).
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
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.