Application Detail
Description of Medical Service
It is proposed that a screening test for mucopolysaccharidosis Type 1 (MPS I) 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 I, it is proposed that cascade testing is offered to close relatives.Description of Medical Condition
MPS I, which exists on a spectrum, including the severe form known as Hurler Syndrome, is a type of lysosomal storage disease. It is a rare, inherited genetic condition where variations occur in the IDUA gene. In MPS I, an enzyme called lysosomal alpha L-iduronidase 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 then causes GAGs to build up in the lysosomes, damaging the cells and affecting many systems in the body. It is a progressive multisystem disorder with varying severity of symptoms, which are usually consistent with varying levels of disease severity. Most known cases fall within the severe form with signs/symptoms starting in the first year of life.Reason for Application
Inclusion in NBSMedical Service Type
Investigative technologyPrevious Application Number/s
Not ApplicableAssociated Documentation
Application Summary and PICO Set
Application Summary (PDF 412 KB)Application Summary (Word 33 KB)
PICO Set 1 (PDF 1283 KB)
PICO Set 1 (Word 4389 KB)
PICO Set 2 (PDF 1253 KB)
PICO Set 2 (Word 4309 KB)
Consultation Survey
Consultation SurveyPASC Consultation
PASC consultation closed 15 March 2024.
MSAC Consultation
MSAC consultation input must be received by no later than Friday, 11 October 2024 for it to be considered by MSAC at its November 2024 meeting.
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 975 KB)PICO Confirmation (Word 595 KB)