Applications

1710 – Newborn bloodspot screening for X-linked adrenoleukodystrophy

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 Complete
  • Type Referral
  • Pre-PASC consultation Closed
  • Pre-MSAC consultation Closed
  • Outcome Supported

Application details

Reason for application

Inclusion in NBS.

Service or technology in this application

Newborn bloodspot screening (NBS) aims to identify babies at risk of developing certain rare conditions and metabolic disorders where early intervention can improve health outcomes.

More information is available on the Department of Health webpage for the Newborn bloodspot screening program.

X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene located on the X chromosome, and testing for it involves multiple sequential tests. First, mass spectrometry analysis is used to detect elevated levels of C26:0-lysophophatidylcholine (C26:0-LPC), a very long chain fatty acid that is accumulated in patients with X-ALD. This step can be combined with other screening currently conducted in Australian NBS programs. However, because other disorders may also lead to an elevated C26:0-LPC level, further testing is conducted to sequence the ABCD1 gene in samples that test positive using mass spectrometry.

In current practice, patients are typically diagnosed only after their X-ALD has manifested – delaying the commencement of treatment.

Type: Investigative technology

Medical condition this application addresses

X-ALD is the most common peroxisomal disorder, affecting approximately 1.6 in 100,000 births in Australia and New Zealand, predominantly males. In addition, females tend to develop X-ALD later in life, and to develop a type of X-ALD that is untreatable.

It affects the adrenal cortex and the central nervous system (brain inflammation and spinal cord/peripheral neuropathy), leading to health issues ranging from symptoms related to shortage of steroid hormone to progressive vision loss, neurocognitive impairment and early death.

There are three types of X-ALD that account for about 90-95% of cases: a childhood cerebral form, adrenomyeloneuropathy and adrenal insufficiency only. The childhood cerebral form is the most common and severe causing progressive neuroregression, typically between the ages of 4 and 7 years of age, followed by death within 2 to 3 years of onset.

Application documents

Newborn Bloodspot Screening Program nomination form

Consultation survey

PICO confirmation

Public summary document

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Consultation survey and deadlines

  • PASC consultation: Closed
  • MSAC consultation: Closed Friday 9 June 2023

Meetings to consider this application

  • PASC meeting: 11–12 August 2022
  • ESC meeting: 8–9 June 2023
  • MSAC meeting: 27–28 July 2023