Applications

1776 – Newborn bloodspot screening for mucopolysaccharidosis Type II (MPS II; Hunter syndrome)

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 mucopolysaccharidosis Type II (MPS II) be added to existing 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 MPS II, it is proposed that cascade testing is offered to biological mothers and older male siblings.

Type: Investigative technology

Medical condition this application addresses

MPS II, also known as Hunter syndrome, is a type of lysosomal storage disease. It is a rare, inherited genetic condition that mainly occurs in boys (X-linked), where variations occur in the IDS gene. In MPS II, an enzyme called iduronate 2-sulfatase doesn’t work properly. This enzyme is responsible for breaking down complex sugar molecules called glycosaminoglycans (GAGs) that are stored in small compartments of cells called lysosomes. This decreased activity of the iduronate 2-sulfatase enzyme results toxic build-up of dermatan sulphate and heparan sulphate in multiple organs of the body. This leads to development of symptoms that includes an enlarged liver and spleen, umbilical or inguinal hernia, hearing loss, narrowing of the spinal canal compressing the spinal cord, and heart valve abnormalities. Severity of symptoms and age of onset vary between individuals. The most severe form of disease is characterised by earlier onset of symptoms, more rapid disease progression and neuronopathic involvement, leading to symptoms of significant neurological impairment, including cognitive disability and behavioural problems.

Consultation survey and deadlines

The following consultation deadlines apply:

  • Pre-PASC consultation deadline: 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