Hopes for a pathway for early diagnosis for Sanfilippo syndrome (MPS III) have been dealt a blow with the Australian Government announcing today that MPS III is not suitable to proceed at this time along the formal Health Technology Assessment pathway for inclusion in Australia’s Newborn Bloodspot Screening (NBS) Program.
The committee of Australian Health Ministers (HMM) considered technical advice developed by the Department of Health and Aged Care. Based on this evidence, ministers determined MPS III does not currently meet the criteria for Australia’s NBS National Policy Framework and at this stage should not be referred for formal assessment by the Medical Services Advisory Committee (MSAC).
While there is recognition of the severity and devastating impact of Sanfilippo syndrome, this decision appears to be largely based on the current lack of an effective treatment. While we acknowledge there is no approved therapy for Sanfilippo syndrome, there are significant benefits to be gained through presymptomatic early intervention and opportunities to access clinical trials that are missed because of delayed diagnosis.
Sanfilippo Children’s Foundation CEO, Ms Kerren Hosking, said a diagnosis of Sanfilippo syndrome as early as possible remains of the utmost importance for ensuring the best outcomes for the child and their family.
“A diagnosis, whether at birth or after the child develops symptoms, does not change the fact of the child having Sanfilippo syndrome. The vital difference with an early diagnosis is it gives the opportunity for early, intensive intervention and offers the family choices.
“Choices about pursuing promising clinical trials which are often only open to children under 30 months of age. Choices about reproductive pathways for future children. Choices about how to optimise the child’s development before the onset of symptoms.
“We know the majority of children are not diagnosed until 4-6 years of age, often after many years of worry, confusion and misdiagnosis. As devastating as hearing your newborn baby has Sanfilippo is, our families tell us they would prefer this to the years of heartache and frustration trying to uncover what is wrong.”
Sanfilippo Children’s Foundation provided the government with a comprehensive submission on the impact of the condition, current clinical trials and therapies in development, the availability of clinical care guidelines and the Sanfilippo community’s attitudes and perspectives on NBS for Sanfilippo.
While disappointed with the decision by the Australian Government, our priority now is to continue to provide decision makers with the latest information and evidence to inform ongoing consideration of MPS III for inclusion in NBS. We will ensure the needs and perspectives of Sanfilippo families are considered to facilitate the earliest possible diagnosis of MPS III and improved outcomes for babies and their families.
There are very promising signs with several MPS III therapies moving closer to regulatory approval in the next 6-12 months. It is our hope as these therapies become accessible, inclusion of MPS III in NBS will also progress in tandem.
We commit to continued advocacy on behalf of our families to ensure that with the emergence of new evidence and new therapies Sanfilippo syndrome can quickly re-enter assessment for inclusion in NBS and be rapidly implemented in Australia, leading the way for the rest of the world.
See the Department of Health and Aged Care website for the latest update.
If you would like to view a discussion of some current issues relating to newborn bloodspot screening for Sanfilippo in Australia you can watch the presentations and panel discussion on carrier and newborn screening from our 2024 Solving Sanfilippo Symposium here.
