Australian Pompe Association

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Australian Pompe Association

The Australian Pompe Association is a support group for parents and patients who are living with a d

Pompe disease is a rare degenerative muscle disease affecting less than 70 Australians. It is caused by our bodies lacking or being deficient in an enzyme called ‘acid alpha glucosidase’ that clears waste products called glycogen from the muscle. This waste product accumulates in the muscles which result in progressive muscle damage and severe muscle weakness. This normally starts with our largest muscles, in our backs, legs & diaphragms and moves on to smaller muscles in our hands, face & tongue. Respiratory muscles are also involved, severely affecting pulmonary function and, in time, most - if not all - patients will need ventilator support. Pompe’s Disease can present itself at any age from birth to older adults, its severity often depending on the age of onset, and level of enzyme activity. Babies have the most severe - ‘infantile’ - form of Pompe’s Disease and can develop symptoms in the first few months of life. The ‘infantile’ form of Pompe's Disease will progress very quickly and, without treatment, these babies may not live longer than twelve months due to the time it takes to diagnose and treat these babies. In Australia, we do not currently screen for Pompe Disease at birth. Adding Pompe Disease to the Newborn Screening schedule would give these babies a much better outcome. Pompe’s disease is a progressive disease that without treatment will rob our members of their mobility, their ability to breath without assistance, their ability to eat without assitance and eventually their lives. Luckily for Pompe sufferers, there has been a treatment developed. This treatment replaces our missing enzyme during a 4-5 hour fortnightly infusion. This treatment slows the progression of our disease allowing us to live longer and more normal lives. One of the Australian Pompe Associations goals is to raise awareness about Pompe disease and build a support base to help us petition the Australian Government to support New Born Screening.

14/11/2025

The Duke Team is excited to announce the Pompe Conferences for 2026!

We will have more information about Pediatric Conference location and clinic dates soon.

ADULT CONFERENCE

• Date: March 28th 2026

• This conference will take place fully virtually. There is NO in-person component to this meeting.

• This meeting will be recorded and available to watch for one month after the meeting date.

• Registration is not yet open. We will send a reminder and a MyChart message when it opens.

12/11/2025

WE NEED YOUR HELP!📣

Although MSAC (Medical Services Advisory Committee) have decided not to recommend Pompe to be added to Australia’s Newborn Screening program, the final decision is left in the hands of the State Health Ministers and Federal Minister for Health, Hon Mark Butler. This decision is likely to be made in early 2026.

Now, we need to campaign directly to any MPs in hopes we can gain support from State Ministers. We will be writing letters and asking for meetings. The more MPs we can connect with, the better. If you, or anyone you know, has a political contact within your state, please reach out to them or connect them with the APA committee.

We need to share our stories and prove to them what we already know, adding Pompe to Newborn Screening will save lives.

Please feel free to share this post!

25/10/2025

Thank you to everyone who attended our Australian Pompe Association 2025 Patient & Family Forum in Melbourne last weekend!

What a weekend! 🎉 What was your favorite part of the Forum?

28/09/2025

REMINDER: Our AGM will be held as part of our Australian Pompe Association 2025 Patient & Family Forum on Sunday October 19th.

One of the very important items on the agenda is the Committee Roles. These positions will be vacated, as per our constitution, and we are looking for nominations for the positions. The committee nomination form has been sent out via email, please be sure to submit your nominations ahead of the AGM.

P.S If you are nominating another member for a role, and they are not currently serving in that role, please make sure you have their permission before doing so.

25/09/2025

Well said from our friends at Acid Maltase Deficiency Association - AMDA - Every little bit of research brings more hope!

Throwback to 1963, when a big “aha!” moment changed the story of Pompe forever.

Up until then, doctors knew Pompe meant glycogen piling up in muscles — but why it happened was a mystery. Then Belgian scientist Henri-Géry Hers discovered the missing piece: a tiny enzyme called acid α-glucosidase (GAA).
That one discovery flipped the script. Pompe became the first recognized lysosomal storage disorder, and it planted the seed for treatments like today’s enzyme replacement therapy.

👉 Why does this matter? Because every breakthrough — from Hers’s enzyme discovery in 1963 to the therapies we have now and the ones still being developed — comes from scientists and researchers who dedicate their lives to pushing knowledge forward. Their work has shaped the past, the present, and the future for everyone in the Pompe community.

💚❤️ Here’s to the researchers, past and present, whose curiosity and persistence keep hope alive.

14/09/2025

Our 2025 Forum Sub-Committee met again on Saturday. With only a month to go, the day was filled with finalising all the moving pieces for the conference (as well as some scenic scooter rides visiting Leanne's horses)! The final agenda and information will be emailed out within the next few weeks.

Are you excited to attend our Australian Pompe Association 2025 Patient & Family Forum?

17/08/2025

The team at Duke are excited to host the virtual Pediatric Pompe Conference on Saturday August 23rd at 9am EST! (US Time)

Here is the agenda for the day filled with experts and patient advocates who will be speaking about research updates, diagnostic journeys, and much more!

Please email any questions directly to dukepompe@duke.edu. They would love to incorporate questions for the Q&A sessions.

Looking forward to seeing you all (virtually)!

-The team at Duke

11/08/2025

Did you know there is a dedicated helpline to support Australians living with rare and complex conditions?

The RARE Helpline aims to provide information and answer key questions people living with a rare and complex disease often face. Staffed by trained personnel at Rare Voices Australia, you can contact the RARE Helpline from Monday to Friday, 9am – 5pm (AEST) on ☎️0499 549 629 or visit 🔗www.rareportal.org.au/rare-helpline/ (link in bio).

01/08/2025

The 2025-2026 Membership Renewals email has been sent out, please keep an eye on your inbox (and check your spam folder too!)

06/07/2025

Our Forum Committee were on site at Pentridge today, starting to plan the finer details of our Australian Pompe Association 2025 Patient & Family Forum!

What do you want to see at our Forum?

04/07/2025

Imagine Gene Therapies being available for children at the The Royal Children's Hospital, Melbourne! A very special cause, Thank you Professor Kornberg! ✈️

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1 Pentridge Blvd

3058

Website

http://www.australianpompe.com/

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