Applications

1774 – Newborn bloodspot screening for glycogen storage disease, Type II (GSD II; Pompe disease)

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Assessment
  • Type New application
  • Pre-PASC consultation Closed
  • Pre-MSAC consultation Open
  • Outcome Pending

Application details

Applicant

Department of Health and Aged Care Newborn bloodspot screening

Reason for application

Inclusion in NBS.

Service or technology in this application

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.

Type: Investigative technology

Medical condition this application addresses

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.

Consultation survey and deadlines

The following consultation deadlines apply:

  • Pre-PASC consultation deadline: Closed 15 March 2024
  • Pre-MSAC consultation deadline: Friday 14 February 2025 11:59 pm AEDT

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We welcome input from everyone. We are especially keen to hear from those with lived experience of the health condition, service or technology the applications are addressing.

Find out more about consultation.

Meetings to consider this application

  • PASC meeting: 18–19 April 2024
  • ESC meeting: 13–14 February 2025
  • MSAC meeting: 3–4 April 2025