Application Detail

Description of Medical Service

It is proposed that a screening test for glycogen storage disease type II be added to the newborn bloodspot screening programs in Australia. Screening will be of newborn babies within 48-72 hours of birth. The initial test consists of collecting blood samples from all newborns via a heel-prick onto filter paper cards, and sending these to a laboratory for testing. When a newborn is diagnosed with glycogen storage disease type II, it is proposed that cascade testing is offered to both biological parents

Description of Medical Condition

Glycogen storage disease, type II (GSD II), also known as Pompe disease, is a type of lysosomal storage disease. It is a rare, inherited genetic condition where variations occur in the alpha-glucosidase gene (GAA) gene. In GSD II, an enzyme called GAA doesn’t work properly. This enzyme is responsible for breaking down glycogen that is stored in small compartments of cells called lysosomes. This then causes glycogen to build up in the lysosomes, damaging the cells and ultimately organs. Severity of symptoms and age of onset vary between individuals. It causes deterioration of muscle strength and growth and leads to early death. Early treatment with enzyme replacement therapy can reduce deterioration and extend life to some degree.

Reason for Application

Inclusion in NBS

Medical Service Type

Investigative technology

Previous Application Number/s

Not Applicable

Associated Documentation

Application Summary and PICO Set

Application Summary (PDF 412 KB)
Application Summary (Word 32 KB)

PICO Set 1 (PDF 1268 K
PICO Set 1 (Word 594 KB)

PICO Set 2 (PDF 1058 KB)
PICO Set 2 (Word 293 KB)

Consultation Survey

Consultation Survey

PASC Consultation
PASC consultation closed 15 March 2024

MSAC Consultation
MSAC consultation closes Friday 14 February 2025

For further information please refer to PASC, ESC, MSAC Key Dates
For further information on the consultation process please refer to MSAC Consultation Process

PICO Confirmation

PICO Confirmation (PDF 866 KB)
PICO Confirmation (Word 350 KB)

Assessment Report

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Public Summary Document

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Meetings for this Application

PASC

18–19 April 2024

ESC

13-14 February 2025

MSAC

3-4 April 2025