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) test or blood test
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. Please allow 3-4 weeks for test result.
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
1. Order a dried blood spot (DBS) test or blood test
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. Please allow 3-4 weeks for test result.
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
There are a couple of options available for collection of samples for acid alpha-glucosidase activity (GAA) testing.
1. One option is collection directly onto a Guthrie card, although these are not always readily accessible to all sites.
2. Alternatively, the GP or referring clinician can arrange collection of an EDTA blood sample (purple-top tube) and send this to an appropriate referral laboratory within 24 hours of collection. The referral laboratory can then transfer the specimen onto a Guthrie card for onward testing.
Please note: It is not necessary to be referred by a specialist. Time is of the essence, so the fastest route is for the GP to do the initial testing.
At present, the laboratories recommended for this are:
Because the blood specimen should ideally be spotted onto the Guthrie card within 48 hours of collection, it is recommended that specimens be sent only from Monday to Thursday, taking public holidays into account.
If clinicians are having difficulty obtaining Guthrie cards directly, referral via one of the above laboratories may be the simplest and quickest option. Specify 'alpha-glucosidase activity (Pompe)' on the form to ensure the sample is not mistakenly sent for the genetics test rather than enzyme activity.
1. One option is collection directly onto a Guthrie card, although these are not always readily accessible to all sites.
2. Alternatively, the GP or referring clinician can arrange collection of an EDTA blood sample (purple-top tube) and send this to an appropriate referral laboratory within 24 hours of collection. The referral laboratory can then transfer the specimen onto a Guthrie card for onward testing.
Please note: It is not necessary to be referred by a specialist. Time is of the essence, so the fastest route is for the GP to do the initial testing.
At present, the laboratories recommended for this are:
- Canterbury Health Laboratories - South Island
- LabPLUS Auckland
Because the blood specimen should ideally be spotted onto the Guthrie card within 48 hours of collection, it is recommended that specimens be sent only from Monday to Thursday, taking public holidays into account.
If clinicians are having difficulty obtaining Guthrie cards directly, referral via one of the above laboratories may be the simplest and quickest option. Specify 'alpha-glucosidase activity (Pompe)' on the form to ensure the sample is not mistakenly sent for the genetics test rather than enzyme activity.
Guthrie cards/tubes should be sent to the laboratory in NZ for forwarding on to SA Pathology - this ensures the results are in the New Zealand database and makes referral onto metabolic consultants easier for patients.
Guthrie cards/tubes should be sent to the laboratory in NZ for forwarding on to SA Pathology - this ensures the results are in the New Zealand database and makes referral onto metabolic consultants easier for patients.
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 may be 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).
Given that the usual way of getting a diagnosis, and then the pathway to treatment, has been slow and 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/
