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 also 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 also 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 (COVID shutdowns depending!). 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. If you have a positive/suspicious dried blood spot test, NZPN will cover the cost of your DNA sequencing for Pompe disease.
| 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.
2. ORDER A DNA KIT
If your patient returns a positive/suspicious dried blood spot test, the next step is to have their DNA sequencing done for confirmation. We advise this as it is good to know which mutations the person has (there are hundreds), and DNA sequencing needs to be done if that person wishes to take part in clinical trials. Fortunately, Kiwis have good access to clinical trials for Pompe disease.
DNA confirmation is easily arranged. Just send a referral to Sequenca Genetics at info@sequenca.nz. They will supply you with a saliva test kit and appropriate documentation and postage. The sample will be sent to Invitae in San Francisco for testing. Results will go back to you 2-3 weeks after sample is received.
3. FAMILY FOLLOW-UP TESTING
Invitae offers family follow-up testing for patients with a relative who was tested at Invitae, and was found to have a pathogenic/likely pathogenic variant or a variant of uncertain significance (VUS). To get started, go to this website:
https://www.invitae.com/en/family/
3. TREATMENT
When your patient is confirmed as having Pompe disease (and if they want treatment), it is important that you apply to PHARMAC at the earliest opportunity for the funding of Myozyme for that patient. Currently, Myozyme is only funded in New Zealand for Infantile Onset Pompe Disease (IOPD), and the application for an adult patient will no doubt be declined. But you need to cross that bridge to be eligible for the ICAP program.
GPs (actually anyone can make a funding application to PHARMAC. You can be a supplier, patient or health professional) should apply here on the PHARMAC website for funding as soon as possible
New Zealand patients are eligible for compassionate access to Myozyme under the International Compassionate Access Program (ICAP) if -
Download the following file for more information. Please disregard the cost of $250USD for the cost of the test. If your patient has a positive/suspicious dried blood spot test, NZPN will cover the cost of the DNA sequencing for Pompe disease.
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.
2. ORDER A DNA KIT
If your patient returns a positive/suspicious dried blood spot test, the next step is to have their DNA sequencing done for confirmation. We advise this as it is good to know which mutations the person has (there are hundreds), and DNA sequencing needs to be done if that person wishes to take part in clinical trials. Fortunately, Kiwis have good access to clinical trials for Pompe disease.
DNA confirmation is easily arranged. Just send a referral to Sequenca Genetics at info@sequenca.nz. They will supply you with a saliva test kit and appropriate documentation and postage. The sample will be sent to Invitae in San Francisco for testing. Results will go back to you 2-3 weeks after sample is received.
3. FAMILY FOLLOW-UP TESTING
Invitae offers family follow-up testing for patients with a relative who was tested at Invitae, and was found to have a pathogenic/likely pathogenic variant or a variant of uncertain significance (VUS). To get started, go to this website:
https://www.invitae.com/en/family/
3. TREATMENT
When your patient is confirmed as having Pompe disease (and if they want treatment), it is important that you apply to PHARMAC at the earliest opportunity for the funding of Myozyme for that patient. Currently, Myozyme is only funded in New Zealand for Infantile Onset Pompe Disease (IOPD), and the application for an adult patient will no doubt be declined. But you need to cross that bridge to be eligible for the ICAP program.
GPs (actually anyone can make a funding application to PHARMAC. You can be a supplier, patient or health professional) should apply here on the PHARMAC website for funding as soon as possible
New Zealand patients are eligible for compassionate access to Myozyme under the International Compassionate Access Program (ICAP) if -
- they are not eligible for publicly funded treatment If/when the application is declined, the GP can then apply for ICAP for that patient
- AND they are not eligible/don't have access to a clinical trial
Download the following file for more information. Please disregard the cost of $250USD for the cost of the test. If your patient has a positive/suspicious dried blood spot test, NZPN will cover the cost of the DNA sequencing for Pompe disease.
| f407-1_pompe_network_patient_flyer_a4_30nov20-2__1_.pdf |
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For more information about Sequenca Genetics, please click on the logo.
If you have any questions and would like to speak to someone at Sequenca Genetics, please call: Dr Richard Lloyd Mobile 021 021 57344 |
For more information about Invitae, please click on
the logo. If you have any questions and would like to speak to someone at Invitae, please call: Nandor Roczo - Regional Manager (Aus/NZ) Mobile +61 488 003 699 (Australia) |