Targeting the immune system as a treatment approach for Sanfilippo

The Sanfilippo Children’s Foundation has awarded funds to Associate Professor Kim Hemsley (Flinders University) and Dr. Marten Snel (South Australian Health and Medical Research Institute). The two-year translational project will evaluate if drugs that target the immune system could benefit children with Sanfilippo.


(Photographer: Tom Huntley)

Breakdown of the complex sugar molecule, heparan sulfate, is impaired in Sanfilippo Syndrome, due to a deficiency in an enzyme required to perform this role. Heparan sulfate builds up inside cells of the body and triggers the immune system, leading to cell damage, especially in the brain.

In this project, Assoc. Prof. Kim Hemsley and Dr. Marten Snel will test compounds that target a part of the immune system on a mouse model of Sanfilippo Type A, by intravenous injection into the bloodstream, or via direct injection into the cerebrospinal fluid.

The team will determine how effective the therapies are in preventing cell degeneration and cognitive decline. If a therapy is proven to be successful, this research will provide a new avenue for exploration in the treatment of Sanfilippo.

Megan Donnell, Executive Director of the Sanfilippo Children’s Foundation, said: “This project will help to develop a greater understanding of the role of the immune system in Sanfilippo and identify potential therapeutic avenues. By limiting the level of inflammation in the brain, it may be possible to slow down the cognitive decline experienced by children with Sanfilippo and improve their quality of life.”

Associate Professor Kim Hemsley is Head of the Childhood Dementia Research Group. She is predominantly interested in the development of the disease process in Sanfilippo Syndrome, and in evaluating therapy effectiveness. As a direct result of her team’s collaborative research, a number of on-going Sanfilippo gene therapy human clinical trials have been initiated.

Dr. Marten Snel is Head of the Proteomics, Metabolomics and MS-Imaging Facility at the SAHMRI. He is an internationally recognised mass spectrometrist, who has extensive collaborations with Sanfilippo researchers Australia wide. He has been heavily involved in Sanfilippo research, particularly in the development of a test for heparan sulfate, which has the potential to be used as a Sanfilippo diagnostic and prognostic tool.


Project Summary

  • Project title: Targeting the immune system as a treatment approach for Sanfilippo
  • Chief investigators: Associate Professor Kim Hemsley and Dr. Marten Snel
  • Amount: $355,000
  • Duration: 3 years (extension granted)
  • Location: Flinders University and the South Australian Health and Medical Research Institute (SAHMRI)
  • Status: Active
  • Start date: July 2020

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