Pompe Disease (Acid Maltase Deficiency)

What is Pompe Disease?

Pompe disease is named after Johannes C. Pompe, a Dutch doctor who first described the disorder in 1932 in an infant patient.  The disease is rare affecting around 1:40,000. Pompe Disease is also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII) and is an autosomal recessive disorder. The symptoms are caused by a deficiency of the lysosomal enzyme acid-α-glucosidase (GAA).  For more information on Pompe Disease click here

New Zealand Pompe Network

The New Zealand Pompe Network is made up of people in NZ with Pompe Disease. You can make contact via the President Allyson on 0274069365 or [email protected].
Information about Pompe and what is happening in this field is available on their website: http://nzpompenetwork.weebly.com/ 
New Zealand NZ Pompe Network organized their first Conference in Auckland 23-24 March 2018.  A range of speakers were present including pharmaceutical companies investing in new therapies and producing current enzyme replacement therapies (ERT), and top researchers in the field from USA and Australia, along with support organisations such as NZORD and MDANZ.
Information from the conference and presentations from the speakers is available on this link https://nzpompenetwork.weebly.com/nzpn-conference-2018-summary.html

Research

Information on clinical trials in the pipeline from around the world can be accessed here: https://nzpompenetwork.weebly.com/clinical-trials.html
You can also search for information on clinical trails via: http://www.clinicaltrials.gov/

Useful Websites

Q&A: Here is where we answer some of our members questions. If you have any questions please email them to [email protected] and we will endeavour to answer them.