Blood-based biomarkers for Sanfilippo syndrome progression and treatment

May 4, 2023

Grant Summary

Institution: University of California, Los Angeles

Primary Investigator: Gal Bitan, Ph.D./Professor of Neurology

Duration: 24 months

Start Date: September 2021

Type of Sanfilippo studied: Types A, B, C, and D

Types of Sanfilippo that could benefit: Types A, B, C, and D

Research Stage: Translational

Grant Description

There have been significant challenges in measuring central nervous system (CNS) disease burden in Sanfilippo syndrome. Existing evaluations require invasive procedures or testing under anesthesia. There is a need to establish non-invasive biomarkers that are able to sensitively measure disease activity.

To address this need, Cure Sanfilippo Foundation is pleased to grant funding support to Gal Bitan, PhD, at the University of California, Los Angeles, for a research project to test novel biomarkers of disease in Sanfilippo syndrome. His work will examine concentrations of proteins that accumulate in the brain of Sanfilippo patients using a new methodology leveraging exosomes that escape from the spinal fluid and can be measured in the blood.

The exosomes will be tested for a panel of potential biomarkers including amyloidogenic proteins that accumulate as secondary storage in the lysosomes of individuals with Sanfilippo. Additionally, researchers will test biomarkers of non-specific neuronal injury, neurofilament light chain, and inflammatory cytokines directly in the serum.

If successful, Dr. Bitan’s new methodology would allow for the measurement of CNS-specific biomarkers via a simple peripheral blood draw. This methodology has never previously been applied to Sanfilippo syndrome.

Grant Updates

Study team has found some exciting results, which will be presented at the upcoming ADVANCE 2023 conference.

Dr. Bitan with members of his laboratory team in summer 2022. (Photo courtesy of Dr. Bitan)

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