Biomarkers are detectable molecules whose levels reflect the presence and severity of a disease process. In the clinic, biomarkers provide essential information regarding disease progression and treatment outcome. A good biomarker or set of biomarkers should be specific for the disease and able to accurately follow its progression and predict future risk for an individual patient. As such, a biomarker needs to be available in biological fluids that can be repeatably accessed (for example, blood/saliva that can be drawn on over time) to keep track of the patient’s progression; rather than cerebrospinal fluid for example that is ethically more risky and challenging to access.

Leanne’s PhD project aims to identify and confirm biomarkers for Sanfilippo syndrome, with an emphasis on the identification of biomarkers from non-invasive biological fluids (blood/saliva). Leanne will first use archival samples to identify and test potential biomarkers, and then observe these in samples from human patients. Results from Leanne’s project can be directly translated into the clinic, with biomarkers used as ongoing tools in predicting the prognosis for patients and measuring if potential Sanfilippo treatments are working in clinical trials.

Project Update 

Leanne Winner has completed her PhD top-up project awarded by the Sanfilippo Children’s Foundation in 2020. During her PhD, Leanne aimed to identify and validate accessible biomarkers for Sanfilippo — i.e., key proteins, genes, or other indicators whose levels reflect the presence and severity of Sanfilippo.

Leanne used a mouse model of Sanfilippo type A to identify biomarker candidates. She first looked at levels of different proteins in the mouse cortex, the outer layer of the brain that controls memory, emotions, actions and learning. By comparing the protein levels in the Sanfilippo model and unaffected mice, she found 13 proteins whose levels were changed in the Sanfilippo model throughout the disease course. While these are potential biomarkers for Sanfilippo, Leanne wanted to narrow the list down to candidates that can be sourced non-invasively, for example, in blood and urine samples from patients.

To see if they could be sourced non-invasively in mice, Leanne performed experiments to detect and measure the 13 proteins in blood samples collected from the mouse model of Sanfilippo type A. She also evaluated blood serum samples from patients with Sanfilippo types A, B, and C to confirm the candidates could be detected in human samples in a clinical setting. Leanne succeeded in identifying two biomarker candidates that can be detected in blood samples. More work will be needed to fully validate the biomarkers before they can be used in clinical trials and clinical monitoring for Sanfilippo syndrome.

Leanne’s PhD project was performed under the guidance of Professor Kim Hemsley (Flinders University), Associate Professor Mary-Louise Rogers (Flinders University), and Associate Professor Marten Snel (SAHMRI). As part of her PhD, Leanne co-authored a review paper on biomarkers for Sanfilippo with her PhD supervisors. She presented results at several in-person and virtual conferences, and the team is working on a publication to share their results with other researchers in the field. 

Project Summary

• Project title: Identification and validation of non-invasively-sourced biomarkers of central nervous system disease in childhood-onset dementia (Sanfilippo syndrome)
• Chief investigator: Leanne Winner’s PhD project will be carried out at Flinders University, under the guidance of A/Prof Kim Hemsley and Dr. Mary-Louise Rogers (Flinders University) and Dr. Marten Snel (SAHMRI).
• Amount: $15,000 over 3 years
• Status: Completed

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