Given that the usual way of getting a diagnosis, and then the pathway to treatment, has been horrendously laborious over the years, NZPN has done a lot of work to try to make the whole journey a lot easier.
In 2020-21 NZPN embarked on an education campaign for the medical community about Pompe disease. We developed a brochure (see pics), added a cover letter, and included a zebra stress ball. We hope that with the zebra sitting on their desks, the doctors will be reminded of rare diseases - and we have contributed to them having a little less stress :)
Our zebras were kindly sponsored by AskBio - a company making a gene therapy for Pompe disease. For more information about the trial please visit this web page: https://www.askbio.com/genetic-disease-focus/pompe/
In 2020-21 NZPN embarked on an education campaign for the medical community about Pompe disease. We developed a brochure (see pics), added a cover letter, and included a zebra stress ball. We hope that with the zebra sitting on their desks, the doctors will be reminded of rare diseases - and we have contributed to them having a little less stress :)
Our zebras were kindly sponsored by AskBio - a company making a gene therapy for Pompe disease. For more information about the trial please visit this web page: https://www.askbio.com/genetic-disease-focus/pompe/
Information for patients
If your GP suspects you might have Pompe disease, they can order a dried blood spot (DBS) test kit for you through NZPN. The kit will be sent directly to your GP and normally arrives within 1 week. Then you can make an appointment with your GP or nurse to have blood taken. It's simple, please watch the video below to see how it's done.
Please note: There is no cost for this test as long as your GP goes through NZPN to order the kits.
If your dried blood spot test comes back positive/suspicious, your GP can then order a DNA testing kit for you. They will have all of the information on how to do this, so you don't need to worry about what to do, or how to do it. These are saliva tests - easy peasy!
Download the following file for more information.
| f408-2_pompe_network_patient_letter_a4.pdf |
Information for doctors
In the event that you suspect your patient may have Pompe Disease, it is easy to find out for sure. Please see the guidelines below to make everything streamlined.
1. ORDER A DRIED BLOOD SPOT (DBS) TESTING KIT
In a process similar to the heel prick test in newborn screening, Pompe disease can be tested from blood samples collected on a Guthrie card. This can be performed in the convenience of the doctor’s surgery using a DBS Kit. Once the blood is collected, it is mailed to a specialised laboratory for analysis - usually in Adelaide, Australia. Please allow 3-4 weeks for test result.
If you order the DBS kits through NZPN, the cost of the kit, shipping and analysis is funded by Sanofi Genzyme New Zealand-wide. No patient details are collected by Sanofi Genzyme when using this service.
If your patient has results which indicate Pompe Disease, you will need to order a confirmatory test, usually urine.
Check information on this website which explains what is looked for and why - HEX4 Glucotetrasaccharides
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When your patient is confirmed as having Pompe disease (and if they want treatment), it is important that you apply at the earliest opportunity for the International Compassionate Access Program (ICAP).
New Zealand patients are eligible for compassionate access to Myozyme under the International Compassionate Access Program (ICAP)
Here are the eligibility requirements;
Pompe Confirmatory Tests
All patients must have at least one screening result and one confirmatory result:
Download the following file for more information. Please disregard the cost of $250USD for the cost of the test.
1. ORDER A DRIED BLOOD SPOT (DBS) TESTING KIT
In a process similar to the heel prick test in newborn screening, Pompe disease can be tested from blood samples collected on a Guthrie card. This can be performed in the convenience of the doctor’s surgery using a DBS Kit. Once the blood is collected, it is mailed to a specialised laboratory for analysis - usually in Adelaide, Australia. Please allow 3-4 weeks for test result.
If you order the DBS kits through NZPN, the cost of the kit, shipping and analysis is funded by Sanofi Genzyme New Zealand-wide. No patient details are collected by Sanofi Genzyme when using this service.
If your patient has results which indicate Pompe Disease, you will need to order a confirmatory test, usually urine.
Check information on this website which explains what is looked for and why - HEX4 Glucotetrasaccharides
***********************************
When your patient is confirmed as having Pompe disease (and if they want treatment), it is important that you apply at the earliest opportunity for the International Compassionate Access Program (ICAP).
New Zealand patients are eligible for compassionate access to Myozyme under the International Compassionate Access Program (ICAP)
Here are the eligibility requirements;
Pompe Confirmatory Tests
All patients must have at least one screening result and one confirmatory result:
- One screening result (enzyme assay-Dried Blood Spot (DBS)) + one confirmatory result in another tissue (enzyme assay -Lymphocytes, Leucocytes, Fibroblast) or muscle (biopsy and histology), or
- One screening result (enzyme assay – Dried Blood Spot (DBS)) + molecular confirmatory results (genotype).
Download the following file for more information. Please disregard the cost of $250USD for the cost of the test.
| f407-1_pompe_network_patient_flyer_a4_30nov20-2__1_.pdf |